17q12 copy number variation syndrome (WP5287)

Homo sapiens

17q12 copy number variation syndrome


JulietaCosta , Egon Willighagen , and Friederike Ehrhart


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Homo sapiens


Diseases Rare Diseases


Pathway Ontology

disease pathway


Label Type Compact URI Comment
CCL5 GeneProduct ensembl:ENSG00000271503
TBC1D3H GeneProduct ensembl:ENSG00000274226
SOCS7 GeneProduct ensembl:ENSG00000274211
TAF15 GeneProduct ensembl:ENSG00000270647
CCL4 GeneProduct ensembl:ENSG00000275302
C17orf78 GeneProduct ensembl:ENSG00000278505
GGNBP2 GeneProduct ensembl:ENSG00000278311
STARD3 GeneProduct ensembl:ENSG00000131748
MYO19 GeneProduct ensembl:ENSG00000278259
GAS2L2 GeneProduct ensembl:ENSG00000270765
LIG3 GeneProduct ensembl:ENSG00000005156
ACACA GeneProduct ensembl:ENSG00000278540
TBC1D3C GeneProduct ensembl:ENSG00000278299
HNF1B GeneProduct ensembl:ENSG00000275410
CACNB1 GeneProduct ensembl:ENSG00000067191
RFFL GeneProduct ensembl:ENSG00000092871
PIP4K2B GeneProduct ensembl:ENSG00000276293
MIEN1 GeneProduct ensembl:ENSG00000141741
TEC GeneProduct ensembl:ENSG00000279119 This gene does not contain any transcripts
Type your comment here
NLE1 GeneProduct ensembl:ENSG00000073536
PIGW GeneProduct ensembl:ENSG00000277161
CCL18 GeneProduct ensembl:ENSG00000275385
DDX52 GeneProduct ensembl:ENSG00000278053
DHRS11 GeneProduct ensembl:ENSG00000278535
PGAP3 GeneProduct ensembl:ENSG00000161395
IKZF3 GeneProduct ensembl:ENSG00000161405
MMP28 GeneProduct ensembl:ENSG00000271447
LASP1 GeneProduct ensembl:ENSG00000002834
ARL5C GeneProduct ensembl:ENSG00000141748
MRPL45 GeneProduct ensembl:ENSG00000278845
GPR179 GeneProduct ensembl:ENSG00000277399
SLFN11 GeneProduct ensembl:ENSG00000172716
EPOP GeneProduct ensembl:ENSG00000273604
ARHGAP23 GeneProduct ensembl:ENSG00000275832
SLC35G3 GeneProduct ensembl:ENSG00000164729
SLFN14 GeneProduct ensembl:ENSG00000236320
CISD3 GeneProduct ensembl:ENSG00000277972
SLFN12 GeneProduct ensembl:ENSG00000172123
MED1 GeneProduct ensembl:ENSG00000125686
UNC45B GeneProduct ensembl:ENSG00000141161
CCL11 GeneProduct ensembl:ENSG00000172156
CCT6B GeneProduct ensembl:ENSG00000132141
GRB7 GeneProduct ensembl:ENSG00000141738
AP2B1 GeneProduct ensembl:ENSG00000006125
RASL10B GeneProduct ensembl:ENSG00000270885
CDK12 GeneProduct ensembl:ENSG00000167258
PLXDC1 GeneProduct ensembl:ENSG00000161381
HEATR9 GeneProduct ensembl:ENSG00000270379
CCL7 GeneProduct ensembl:ENSG00000108688
STAC2 GeneProduct ensembl:ENSG00000141750
TCAP GeneProduct ensembl:ENSG00000173991
C17orf50 GeneProduct ensembl:ENSG00000270806
NEUROD2 GeneProduct ensembl:ENSG00000171532
CCL1 GeneProduct ensembl:ENSG00000108702
RDM1 GeneProduct ensembl:ENSG00000278023
PCGF2 GeneProduct ensembl:ENSG00000277258
PNMT GeneProduct ensembl:ENSG00000141744
PEX12 GeneProduct ensembl:ENSG00000108733
DUSP14 GeneProduct ensembl:ENSG00000276023
TADA2A GeneProduct ensembl:ENSG00000276234
CCL16 GeneProduct ensembl:ENSG00000275152
CCL3L1 GeneProduct ensembl:ENSG00000276085
LHX1 GeneProduct ensembl:ENSG00000273706
TBC1D3B GeneProduct ensembl:ENSG00000274808
FNDC8 GeneProduct ensembl:ENSG00000073598
TBC1D3K GeneProduct ensembl:ENSG00000273513
MRM1 GeneProduct ensembl:ENSG00000278619
RPL23 GeneProduct ensembl:ENSG00000125691
CCL13 GeneProduct ensembl:ENSG00000181374
FBXL20 GeneProduct ensembl:ENSG00000108306
TBC1D3 GeneProduct ensembl:ENSG00000274611
TBC1D3I GeneProduct ensembl:ENSG00000274933
CCL15 GeneProduct ensembl:ENSG00000275718
PPP1R1B GeneProduct ensembl:ENSG00000131771
ZNF830 GeneProduct ensembl:ENSG00000198783
LYZL6 GeneProduct ensembl:ENSG00000275722
CCL8 GeneProduct ensembl:ENSG00000108700
ERBB2 GeneProduct ensembl:ENSG00000141736
ASIC2 GeneProduct ensembl:ENSG00000108684 Chromosomal Location 17q11.2-q12
AATF GeneProduct ensembl:ENSG00000275700
ZNHIT3 GeneProduct ensembl:ENSG00000273611
SRCIN1 GeneProduct ensembl:ENSG00000277363
MLLT6 GeneProduct ensembl:ENSG00000275023
SLFN5 GeneProduct ensembl:ENSG00000166750
FBXO47 GeneProduct ensembl:ENSG00000204952
CCL4L2 GeneProduct ensembl:ENSG00000276070
SYNRG GeneProduct ensembl:ENSG00000275066
TBC1D3L GeneProduct ensembl:ENSG00000274512
CCL3 GeneProduct ensembl:ENSG00000277632
C17orf98 GeneProduct ensembl:ENSG00000275489
SLFN13 GeneProduct ensembl:ENSG00000154760
TBC1D3G GeneProduct ensembl:ENSG00000260287
TMEM132E-DT GeneProduct ensembl:ENSG00000197322
CCL14 GeneProduct ensembl:ENSG00000276409
CWC25 GeneProduct ensembl:ENSG00000273559
TMEM132E GeneProduct ensembl:ENSG00000181291
RAD51D GeneProduct ensembl:ENSG00000185379
TLK2P1 GeneProduct ensembl:ENSG00000226049 Also known as: HUAT, LGALS9A
CCL2 GeneProduct ensembl:ENSG00000108691
Uncharacterized protein C17orf50 Protein uniprot:Q8WW18
Migration and invasion enhancer 1 Protein uniprot:Q9BRT3
Pre-mRNA-splicing factor CWC25 homolog Protein uniprot:Q9NXE8
Growth factor receptor-bound protein 7 Protein uniprot:Q14451
Plexin domain-containing protein 1 Protein uniprot:Q8IUK5
CDGSH iron-sulfur domain-containing protein 3, mitochondrial Protein uniprot:P0C7P0
C-C motif chemokine 7 Protein uniprot:P80098
T-complex protein 1 subunit zeta-2 Protein uniprot:Q92526
Telethonin Protein uniprot:O15273
Zinc finger HIT domain-containing protein 3 Protein uniprot:Q15649
C-C motif chemokine 1 Protein uniprot:P22362
Zinc finger protein 830 Protein uniprot:Q96NB3
Protein unc-45 homolog B Protein uniprot:Q8IWX7
Voltage-dependent L-type calcium channel subunit beta-1 Protein uniprot:Q02641
Uncharacterized protein C17orf78 Protein uniprot:Q8N4C9
Gametogenetin-binding protein 2 Protein uniprot:Q9H3C7
Schlafen family member 11 Protein uniprot:Q7Z7L1
TBC1 domain family member 3H Protein uniprot:P0C7X1
Polycomb group RING finger protein 2 Protein uniprot:P35227
Protein AF-17 Protein uniprot:P55198
C-C motif chemokine 13 Protein uniprot:Q99616
StAR-related lipid transfer protein 3 Protein uniprot:Q14849
Transcriptional adapter 2-alpha Protein uniprot:O75478
C-C motif chemokine 3-like 1 Protein uniprot:P16619
C-C motif chemokine 18 Protein uniprot:P55774
Receptortyrosine-protein kinase erbB-2 Protein uniprot:P04626
Ras-like proteinfamily member 10B Protein uniprot:Q96S79
C-C motif chemokine 2 Protein uniprot:P13500 Biological process: Inflammatory response & Chemotaxis
Ribonuclease SLFN12 Protein uniprot:Q8IYM2
C-C motif chemokine 16 Protein uniprot:O15467
Protein HEATR9 Protein uniprot:A2RTY3
C-C motif chemokine 8 Protein uniprot:P80075
Notchless protein homolog 1 Protein uniprot:Q9NVX2
Protein phosphatase 1 regulatory subunit 1B Protein uniprot:Q9UD71
39S ribosomal protein L45, mitochondrial Protein uniprot:Q9BRJ2
LIM/homeobox protein Lhx1 Protein uniprot:P48742
Eotaxin Protein uniprot:P51671
F-box/LRR-repeat protein 20 Protein uniprot:Q96IG2
TBC1 domain family member 3C Protein uniprot:Q6IPX1
Acid-sensing ion channel 2 Protein uniprot:Q16515 Cation channel with high affinity for sodium
DNA repair protein RAD51 homolog 4 Protein uniprot:O75771
Zinc finger protein Aiolos Protein uniprot:Q9UKT9
Schlafen family member 5 Protein uniprot:Q08AF3
TATA-binding protein-associated factor 2N Protein uniprot:Q92804
SRC kinase signaling inhibitor 1 Protein uniprot:Q9C0H9
TBC1 domain family member 3 Protein uniprot:Q8IZP1
Transmembrane protein 132E Protein uniprot:Q6IEE7
Unconventional myosin-XIX Protein uniprot:Q96H55
Elongin BC and Polycomb repressive complex 2-associated protein Protein uniprot:A6NHQ4
C-C motif chemokine 14 Protein uniprot:Q16627
60S ribosomal protein L23 Protein uniprot:P62829
Neurogenic differentiation factor 2 Protein uniprot:Q15784
AP-2 complex subunit beta Protein uniprot:P63010
Probable ATP-dependentRNA helicase DDX52 Protein uniprot:Q9Y2R4
Solute carrier family 35 member G3 Protein uniprot:Q8N808
TBC1 domain family member 3K Protein uniprot:A0A087X1G2
Synergin gamma Protein uniprot:Q9UMZ2
Dehydrogenase/reductase SDR family member 11 Protein uniprot:Q6UWP2
Hepatocyte nuclearfactor 1-beta Protein uniprot:P35680
Phenylethanolamine N-methyltransferase Protein uniprot:P11086
Cyclin-dependent kinase 12 Protein uniprot:Q9NYV4
DNA ligase 3 Protein uniprot:P49916
C-C motif chemokine 4 Protein uniprot:P13236
Phosphatidylinositol-glycan biosynthesis class W protein Protein uniprot:Q7Z7B1
TBC1 domain family member 3L Protein uniprot:B9A6J9
Putative ADP-ribosylation factor-like protein 5C Protein uniprot:A6NH57
Rho GTPase-activating protein 23 Protein uniprot:Q9P227
TBC1 domain family member 3G Protein uniprot:Q6DHY5
Dual specificity protein phosphatase 14 Protein uniprot:O95147
Peroxisome assembly protein 12 Protein uniprot:O00623
Protein AATF Protein uniprot:Q9NY61
TMEM132E-DT Protein uniprot:A2RUQ5 Uncharacterized protein
Type your comment here
C-C motif chemokine 15 Protein uniprot:Q16663
SH3 and cysteine-rich domain-containing protein 2 Protein uniprot:Q6ZMT1
Suppressor of cytokine signaling 7 Protein uniprot:O14512
C-C motif chemokine 3 Protein uniprot:P10147
GAS2-like protein 2 Protein uniprot:Q8NHY3
TBC1 domain family member 3B Protein uniprot:A6NDS4
Schlafen familymember 13 Protein uniprot:Q68D06
Matrix metalloproteinase-28 Protein uniprot:Q9H239
Post-GPI attachment to proteins factor 3 Protein uniprot:Q96FM1
Protein SLFN14 Protein uniprot:P0C7P3
Fibronectin type III domain-containing protein 8 Protein uniprot:Q8TC99
Tyrosine-protein kinase Tec Protein uniprot:P42680
C-C motif chemokine 4-like Protein uniprot:Q8NHW4
rRNA methyltransferase1, mitochondrial Protein uniprot:Q6IN84
Acetyl-CoA carboxylase 1 Protein uniprot:Q13085
Mediator of RNA polymerase II transcription subunit 1 Protein uniprot:Q15648
C-C motif chemokine 5 Protein uniprot:P13501
F-box only protein 47 Protein uniprot:Q5MNV8
Uncharacterized protein C17orf98 Protein uniprot:A8MV24
Probable G-protein coupled receptor 179 Protein uniprot:Q6PRD1
TBC1 domain family member 3I Protein uniprot:A0A087WXS9
LIM and SH3 domain protein 1 Protein uniprot:Q14847
E3 ubiquitin-protein ligase rififylin Protein uniprot:Q8WZ73
RAD52 motif-containing protein 1 Protein uniprot:Q8NG50
Lysozyme-like protein 6 Protein uniprot:O75951
Phosphatidylinositol 5-phosphate 4-kinase type-2 beta Protein uniprot:P78356


  1. Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. Schulman JD, Goodman SI, Mace JW, Patrick AD, Tietze F, Butler EJ. Biochem Biophys Res Commun. 1975 Jul 8;65(1):68–74. PubMed Europe PMC Scholia
  2. Nucleotide sequence of the third cytokine LD78 gene and mapping of all three LD78 gene loci to human chromosome 17. Hirashima M, Ono T, Nakao M, Nishi H, Kimura A, Nomiyama H, et al. DNA Seq. 1992;3(4):203–12. PubMed Europe PMC Scholia
  3. Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene. Powers PA, Liu S, Hogan K, Gregg RG. J Biol Chem. 1992 Nov 15;267(32):22967–72. PubMed Europe PMC Scholia
  4. Two members of an HNF1 homeoprotein family are expressed in human liver. Bach I, Mattei MG, Cereghini S, Yaniv M. Nucleic Acids Res. 1991 Jul 11;19(13):3553–9. PubMed Europe PMC Scholia
  5. Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12. Donlon TA, Krensky AM, Wallace MR, Collins FS, Lovett M, Clayberger C. Genomics. 1990 Mar;6(3):548–53. PubMed Europe PMC Scholia
  6. cDNA and predicted amino acid sequences of the human ribosomal protein genes rpS12 and rpL17. Hérault Y, Michel D, Chatelain G, Brun G. Nucleic Acids Res. 1991 Jul 25;19(14):4001. PubMed Europe PMC Scholia
  7. Conservation and diversity in families of coated vesicle adaptins. Ponnambalam S, Robinson MS, Jackson AP, Peiperl L, Parham P. J Biol Chem. 1990 Mar 25;265(9):4814–20. PubMed Europe PMC Scholia
  8. Two inflammatory mediator cytokine genes are closely linked and variably amplified on chromosome 17q. Irving SG, Zipfel PF, Balke J, McBride OW, Morton CC, Burd PR, et al. Nucleic Acids Res. 1990 Jun 11;18(11):3261–70. PubMed Europe PMC Scholia
  9. Localization of monocyte chemotactic protein-1 gene (SCYA2) to human chromosome 17q11.2-q21.1. Mehrabian M, Sparkes RS, Mohandas T, Fogelman AM, Lusis AJ. Genomics. 1991 Jan;9(1):200–3. PubMed Europe PMC Scholia
  10. Sequence and chromosomal location of the I-309 gene. Relationship to genes encoding a family of inflammatory cytokines. Miller MD, Wilson SD, Dorf ME, Seuanez HN, O’Brien SJ, Krangel MS. J Immunol. 1990 Oct 15;145(8):2737–44. PubMed Europe PMC Scholia
  11. A human T cell-specific molecule is a member of a new gene family. Schall TJ, Jongstra J, Dyer BJ, Jorgensen J, Clayberger C, Davis MM, et al. J Immunol. 1988 Aug 1;141(3):1018–25. PubMed Europe PMC Scholia
  12. Identification, cloning, and characterization of an immune activation gene. Lipes MA, Napolitano M, Jeang KT, Chang NT, Leonard WJ. Proc Natl Acad Sci U S A. 1988 Dec;85(24):9704–8. PubMed Europe PMC Scholia
  13. A novel polypeptide secreted by activated human T lymphocytes. Miller MD, Hata S, De Waal Malefyt R, Krangel MS. J Immunol. 1989 Nov 1;143(9):2907–16. PubMed Europe PMC Scholia
  14. Differential usage of three exons generates at least five different mRNAs encoding human leukocyte common antigens. Streuli M, Hall LR, Saga Y, Schlossman SF, Saito H. J Exp Med. 1987 Nov 1;166(5):1548–66. PubMed Europe PMC Scholia
  15. Cloning and sequencing of the cDNA for human monocyte chemotactic and activating factor (MCAF). Furutani Y, Nomura H, Notake M, Oyamada Y, Fukui T, Yamada M, et al. Biochem Biophys Res Commun. 1989 Feb 28;159(1):249–55. PubMed Europe PMC Scholia
  16. Similarity of protein encoded by the human c-erb-B-2 gene to epidermal growth factor receptor. Yamamoto T, Ikawa S, Akiyama T, Semba K, Nomura N, Miyajima N, et al. Nature. 1986 Jan 16;319(6050):230–4. PubMed Europe PMC Scholia
  17. A cDNA clone used to study mRNA inducible in human tonsillar lymphocytes by a tumor promoter. Obaru K, Fukuda M, Maeda S, Shimada K. J Biochem. 1986 Mar;99(3):885–94. PubMed Europe PMC Scholia
  18. G proteins: a family of signal transducers. Stryer L, Bourne HR. Annu Rev Cell Biol. 1986;2:391–419. PubMed Europe PMC Scholia
  19. Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis. Kaneda N, Ichinose H, Kobayashi K, Oka K, Kishi F, Nakazawa A, et al. J Biol Chem. 1988 Jun 5;263(16):7672–7. PubMed Europe PMC Scholia
  20. Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. Tomasetto C, Régnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, et al. Genomics. 1995 Aug 10;28(3):367–76. PubMed Europe PMC Scholia
  21. Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. Schmitz W, Albers C, Fingerhut R, Conzelmann E. Eur J Biochem. 1995 Aug 1;231(3):815–22. PubMed Europe PMC Scholia
  22. AT4 receptor structure-binding relationship: N-terminal-modified angiotensin IV analogues. Sardinia MF, Hanesworth JM, Krishnan F, Harding JW. Peptides. 1994;15(8):1399–406. PubMed Europe PMC Scholia
  23. Localization and identification of Ca2+ATPases in highly purified human platelet plasma and intracellular membranes. Evidence that the monoclonal antibody PL/IM 430 recognizes the SERCA 3 Ca2+ATPase in human platelets. Bokkala S, el-Daher SS, Kakkar VV, Wuytack F, Authi KS. Biochem J. 1995 Mar 15;306 ( Pt 3)(Pt 3):837–42. PubMed Europe PMC Scholia
  24. Human acetyl-CoA carboxylase: characterization, molecular cloning, and evidence for two isoforms. Abu-Elheiga L, Jayakumar A, Baldini A, Chirala SS, Wakil SJ. Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):4011–5. PubMed Europe PMC Scholia
  25. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Wei YF, Robins P, Carter K, Caldecott K, Pappin DJ, Yu GL, et al. Mol Cell Biol. 1995 Jun;15(6):3206–16. PubMed Europe PMC Scholia
  26. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. Lee JW, Choi HS, Gyuris J, Brent R, Moore DD. Mol Endocrinol. 1995 Feb;9(2):243–54. PubMed Europe PMC Scholia
  27. Molecular cloning and analysis of the human Tec protein-tyrosine kinase. Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y, Hirai H. Leukemia. 1994 Oct;8(10):1663–72. PubMed Europe PMC Scholia
  28. Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia. Prasad R, Leshkowitz D, Gu Y, Alder H, Nakamura T, Saito H, et al. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8107–11. PubMed Europe PMC Scholia
  29. Expression of mRNAs encoding ARPP-16/19, ARPP-21, and DARPP-32 in human brain tissue. Brené S, Lindefors N, Ehrlich M, Taubes T, Horiuchi A, Kopp J, et al. J Neurosci. 1994 Mar;14(3 Pt 1):985–98. PubMed Europe PMC Scholia
  30. The beta 1 and beta 2 subunits of the AP complexes are the clathrin coat assembly components. Gallusser A, Kirchhausen T. EMBO J. 1993 Dec 15;12(13):5237–44. PubMed Europe PMC Scholia
  31. Cloning and chromosome mapping of the human Mel-18 gene which encodes a DNA-binding protein with a new “RING-finger” motif. Ishida A, Asano H, Hasegawa M, Koseki H, Ono T, Yoshida MC, et al. Gene. 1993 Jul 30;129(2):249–55. PubMed Europe PMC Scholia
  32. Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. Gregg RG, Powers PA, Hogan K. Genomics. 1993 Jan;15(1):185–7. PubMed Europe PMC Scholia
  33. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, et al. Hum Mol Genet. 1993 Jul;2(7):863–8. PubMed Europe PMC Scholia
  34. Human monocyte chemotactic protein-3 (MCP-3): molecular cloning of the cDNA and comparison with other chemokines. Opdenakker G, Froyen G, Fiten P, Proost P, Van Damme J. Biochem Biophys Res Commun. 1993 Mar 15;191(2):535–42. PubMed Europe PMC Scholia
  35. HCC-1, a novel chemokine from human plasma. Schulz-Knappe P, Mägert HJ, Dewald B, Meyer M, Cetin Y, Kubbies M, et al. J Exp Med. 1996 Jan 1;183(1):295–9. PubMed Europe PMC Scholia
  36. Identification of human proteins functionally conserved with the yeast putative adaptors ADA2 and GCN5. Candau R, Moore PA, Wang L, Barlev N, Ying CY, Rosen CA, et al. Mol Cell Biol. 1996 Feb;16(2):593–602. PubMed Europe PMC Scholia
  37. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. Druck T, Gu Y, Prabhala G, Cannizzaro LA, Park SH, Huebner K, et al. Genomics. 1995 Nov 1;30(1):94–7. PubMed Europe PMC Scholia
  38. Human eotaxin is a specific chemoattractant for eosinophil cells and provides a new mechanism to explain tissue eosinophilia. Garcia-Zepeda EA, Rothenberg ME, Ownbey RT, Celestin J, Leder P, Luster AD. Nat Med. 1996 Apr;2(4):449–56. PubMed Europe PMC Scholia
  39. Cloning and expression of a novel human brain Na+ channel. Price MP, Snyder PM, Welsh MJ. J Biol Chem. 1996 Apr 5;271(14):7879–82. PubMed Europe PMC Scholia
  40. A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2. Naruse K, Ueno M, Satoh T, Nomiyama H, Tei H, Takeda M, et al. Genomics. 1996 Jun 1;34(2):236–40. PubMed Europe PMC Scholia
  41. Isolation of three testis-specific genes (TSA303, TSA806, TSA903) by a differential mRNA display method. Ozaki K, Kuroki T, Hayashi S, Nakamura Y. Genomics. 1996 Sep 1;36(2):316–9. PubMed Europe PMC Scholia
  42. NeuroD2 and neuroD3: distinct expression patterns and transcriptional activation potentials within the neuroD gene family. McCormick MB, Tamimi RM, Snider L, Asakura A, Bergstrom D, Tapscott SJ. Mol Cell Biol. 1996 Oct;16(10):5792–800. PubMed Europe PMC Scholia
  43. Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits. Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S. Genomics. 1995 Dec 10;30(3):605–9. PubMed Europe PMC Scholia
  44. The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798. Waldmann R, Voilley N, Mattéï MG, Lazdunski M. Genomics. 1996 Oct 15;37(2):269–70. PubMed Europe PMC Scholia
  45. Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins. Morohoshi F, Arai K, Takahashi EI, Tanigami A, Ohki M. Genomics. 1996 Nov 15;38(1):51–7. PubMed Europe PMC Scholia
  46. Human monocyte chemoattractant protein (MCP)-4 is a novel CC chemokine with activities on monocytes, eosinophils, and basophils induced in allergic and nonallergic inflammation that signals through the CC chemokine receptors (CCR)-2 and -3. Garcia-Zepeda EA, Combadiere C, Rothenberg ME, Sarafi MN, Lavigne F, Hamid Q, et al. J Immunol. 1996 Dec 15;157(12):5613–26. PubMed Europe PMC Scholia
  47. Tissue-specific subunit of the mouse cytosolic chaperonin-containing TCP-1. Kubota H, Hynes GM, Kerr SM, Willison KR. FEBS Lett. 1997 Jan 27;402(1):53–6. PubMed Europe PMC Scholia
  48. A novel interaction between the juxtamembrane region of the p55 tumor necrosis factor receptor and phosphatidylinositol-4-phosphate 5-kinase. Castellino AM, Parker GJ, Boronenkov IV, Anderson RA, Chao MV. J Biol Chem. 1997 Feb 28;272(9):5861–70. PubMed Europe PMC Scholia
  49. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Chang CC, Lee WH, Moser H, Valle D, Gould SJ. Nat Genet. 1997 Apr;15(4):385–8. PubMed Europe PMC Scholia
  50. The human MCP-2 gene (SCYA8): cloning, sequence analysis, tissue expression, and assignment to the CC chemokine gene contig on chromosome 17q11.2. Van Coillie E, Fiten P, Nomiyama H, Sakaki Y, Miura R, Yoshie O, et al. Genomics. 1997 Mar 1;40(2):323–31. PubMed Europe PMC Scholia
  51. NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively. Tamimi RM, Steingrimsson E, Montgomery-Dyer K, Copeland NG, Jenkins NA, Tapscott SJ. Genomics. 1997 Mar 1;40(2):355–7. PubMed Europe PMC Scholia
  52. Molecular cloning of human GRB-7 co-amplified with CAB1 and c-ERBB-2 in primary gastric cancer. Kishi T, Sasaki H, Akiyama N, Ishizuka T, Sakamoto H, Aizawa S, et al. Biochem Biophys Res Commun. 1997 Mar 6;232(1):5–9. PubMed Europe PMC Scholia
  53. Aiolos, a lymphoid restricted transcription factor that interacts with Ikaros to regulate lymphocyte differentiation. Morgan B, Sun L, Avitahl N, Andrikopoulos K, Ikeda T, Gonzales E, et al. EMBO J. 1997 Apr 15;16(8):2004–13. PubMed Europe PMC Scholia
  54. Genomic organization, complete sequence, and chromosomal location of the gene for human eotaxin (SCYA11), an eosinophil-specific CC chemokine. Garcia-Zepeda EA, Rothenberg ME, Weremowicz S, Sarafi MN, Morton CC, Luster AD. Genomics. 1997 May 1;41(3):471–6. PubMed Europe PMC Scholia
  55. Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1. Dong WF, Heng HH, Lowsky R, Xu Y, DeCoteau JF, Shi XM, et al. DNA Cell Biol. 1997 Jun;16(6):671–8. PubMed Europe PMC Scholia
  56. A novel human CC chemokine PARC that is most homologous to macrophage-inflammatory protein-1 alpha/LD78 alpha and chemotactic for T lymphocytes, but not for monocytes. Hieshima K, Imai T, Baba M, Shoudai K, Ishizuka K, Nakagawa T, et al. J Immunol. 1997 Aug 1;159(3):1140–9. PubMed Europe PMC Scholia
  57. Isolation and characterization of PBP, a protein that interacts with peroxisome proliferator-activated receptor. Zhu Y, Qi C, Jain S, Rao MS, Reddy JK. J Biol Chem. 1997 Oct 10;272(41):25500–6. PubMed Europe PMC Scholia
  58. A novel ligand for an SH3 domain of the adaptor protein Nck bears an SH2 domain and nuclear signaling motifs. Matuoka K, Miki H, Takahashi K, Takenawa T. Biochem Biophys Res Commun. 1997 Oct 20;239(2):488–92. PubMed Europe PMC Scholia
  59. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, et al. FEBS Lett. 1997 Sep 29;415(2):163–8. PubMed Europe PMC Scholia
  60. A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate. Rameh LE, Tolias KF, Duckworth BC, Cantley LC. Nature. 1997 Nov 13;390(6656):192–6. PubMed Europe PMC Scholia
  61. Identification of RB18A, a 205 kDa new p53 regulatory protein which shares antigenic and functional properties with p53. Drané P, Barel M, Balbo M, Frade R. Oncogene. 1997 Dec 18;15(25):3013–24. PubMed Europe PMC Scholia
  62. Isolation of novel human and mouse genes of the recA/RAD51 recombination-repair gene family. Cartwright R, Dunn AM, Simpson PJ, Tambini CE, Thacker J. Nucleic Acids Res. 1998 Apr 1;26(7):1653–9. PubMed Europe PMC Scholia
  63. Mapping of FASN and ACACA on two chicken microchromosomes disrupts the human 17q syntenic group well conserved in mammals. Pitel F, Fillon V, Heimel C, Le Fur N, el Khadir-Mounier C, Douaire M, et al. Mamm Genome. 1998 Apr;9(4):297–300. PubMed Europe PMC Scholia
  64. Molecular cloning of leukotactin-1: a novel human beta-chemokine, a chemoattractant for neutrophils, monocytes, and lymphocytes, and a potent agonist at CC chemokine receptors 1 and 3. Youn BS, Zhang SM, Lee EK, Park DH, Broxmeyer HE, Murphy PM, et al. J Immunol. 1997 Dec 1;159(11):5201–5. PubMed Europe PMC Scholia
  65. Identification, characterization, and genetic mapping of Rad51d, a new mouse and human RAD51/RecA-related gene. Pittman DL, Weinberg LR, Schimenti JC. Genomics. 1998 Apr 1;49(1):103–11. PubMed Europe PMC Scholia
  66. Characterization of a novel CC chemokine, HCC-4, whose expression is increased by interleukin-10. Hedrick JA, Helms A, Vicari A, Zlotnik A. Blood. 1998 Jun 1;91(11):4242–7. PubMed Europe PMC Scholia
  67. Novel cofactors and TFIIA mediate functional core promoter selectivity by the human TAFII150-containing TFIID complex. Martinez E, Ge H, Tao Y, Yuan CX, Palhan V, Roeder RG. Mol Cell Biol. 1998 Nov;18(11):6571–83. PubMed Europe PMC Scholia
  68. Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes. Morohoshi F, Ootsuka Y, Arai K, Ichikawa H, Mitani S, Munakata N, et al. Gene. 1998 Oct 23;221(2):191–8. PubMed Europe PMC Scholia
  69. The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. Gregorio CC, Trombitás K, Centner T, Kolmerer B, Stier G, Kunke K, et al. J Cell Biol. 1998 Nov 16;143(4):1013–27. PubMed Europe PMC Scholia
  70. Schlafen, a new family of growth regulatory genes that affect thymocyte development. Schwarz DA, Katayama CD, Hedrick SM. Immunity. 1998 Nov;9(5):657–68. PubMed Europe PMC Scholia
  71. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. DNA Res. 1998 Dec 31;5(6):355–64. PubMed Europe PMC Scholia
  72. Chemokine PARC gene (SCYA18) generated by fusion of two MIP-1alpha/LD78alpha-like genes. Tasaki Y, Fukuda S, Iio M, Miura R, Imai T, Sugano S, et al. Genomics. 1999 Feb 1;55(3):353–7. PubMed Europe PMC Scholia
  73. Serine and tyrosine phosphorylations cooperate in Raf-1, but not B-Raf activation. Mason CS, Springer CJ, Cooper RG, Superti-Furga G, Marshall CJ, Marais R. EMBO J. 1999 Apr 15;18(8):2137–48. PubMed Europe PMC Scholia
  74. Organization of the chemokine gene cluster on human chromosome 17q11.2 containing the genes for CC chemokine MPIF-1, HCC-2, HCC-1, LEC, and RANTES. Nomiyama H, Fukuda S, Iio M, Tanase S, Miura R, Yoshie O. J Interferon Cytokine Res. 1999 Mar;19(3):227–34. PubMed Europe PMC Scholia
  75. Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. Page LJ, Sowerby PJ, Lui WW, Robinson MS. J Cell Biol. 1999 Sep 6;146(5):993–1004. PubMed Europe PMC Scholia
  76. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. Hum Mol Genet. 1999 Oct;8(11):2001–8. PubMed Europe PMC Scholia
  77. Amplification and overexpression of peroxisome proliferator-activated receptor binding protein (PBP/PPARBP) gene in breast cancer. Zhu Y, Qi C, Jain S, Le Beau MM, Espinosa R 3rd, Atkins GB, et al. Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10848–53. PubMed Europe PMC Scholia
  78. Human aiolos, an ikaros-related zinc finger DNA binding protein: cDNA cloning, tissue expression pattern, and chromosomal mapping. Hosokawa Y, Maeda Y, Takahashi E i, Suzuki M, Seto M. Genomics. 1999 Nov 1;61(3):326–9. PubMed Europe PMC Scholia
  79. Identification of a novel partner of RNA polymerase II subunit 11, Che-1, which interacts with and affects the growth suppression function of Rb. Fanciulli M, Bruno T, Di Padova M, De Angelis R, Iezzi S, Iacobini C, et al. FASEB J. 2000 May;14(7):904–12. PubMed Europe PMC Scholia
  80. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O. DNA Res. 2000 Apr 28;7(2):143–50. PubMed Europe PMC Scholia
  81. Genes expressed in human tumor endothelium. St Croix B, Rago C, Velculescu V, Traverso G, Romans KE, Montgomery E, et al. Science. 2000 Aug 18;289(5482):1197–202. PubMed Europe PMC Scholia
  82. Identification of novel transcription factor-like gene from human intestinal cells. Lindfors K, Halttunen T, Huotari P, Nupponen N, Vihinen M, Visakorpi T, et al. Biochem Biophys Res Commun. 2000 Sep 24;276(2):660–6. PubMed Europe PMC Scholia
  83. Epilysin, a novel human matrix metalloproteinase (MMP-28) expressed in testis and keratinocytes and in response to injury. Lohi J, Wilson CL, Roby JD, Parks WC. J Biol Chem. 2001 Mar 30;276(13):10134–44. PubMed Europe PMC Scholia
  84. Negative-feedback regulation of CD28 costimulation by a novel mitogen-activated protein kinase phosphatase, MKP6. Marti F, Krause A, Post NH, Lyddane C, Dupont B, Sadelain M, et al. J Immunol. 2001 Jan 1;166(1):197–206. PubMed Europe PMC Scholia
  85. Characterization of 16 novel human genes showing high similarity to yeast sequences. Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, et al. Yeast. 2001 Jan 15;18(1):69–80. PubMed Europe PMC Scholia
  86. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O. DNA Res. 2000 Dec 31;7(6):347–55. PubMed Europe PMC Scholia
  87. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. Genome Res. 2001 Mar;11(3):422–35. PubMed Europe PMC Scholia
  88. MMP-28, a new human matrix metalloproteinase with an unusual cysteine-switch sequence is widely expressed in tumors. Marchenko GN, Strongin AY. Gene. 2001 Mar 7;265(1–2):87–93. PubMed Europe PMC Scholia
  89. The control of mammalian DNA replication: a brief history of space and timing. Cimbora DM, Groudine M. Cell. 2001 Mar 9;104(5):643–6. PubMed Europe PMC Scholia
  90. EGF mutant receptor vIII as a molecular target in cancer therapy. Kuan CT, Wikstrand CJ, Bigner DD. Endocr Relat Cancer. 2001 Jun;8(2):83–96. PubMed Europe PMC Scholia
  91. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, Burkhart W, Blackburn K, Moyer MB, Schlatzer DM, Moseley A, et al. J Biol Chem. 2001 Nov 23;276(47):43958–69. PubMed Europe PMC Scholia
  92. Cell surface tumor endothelial markers are conserved in mice and humans. Carson-Walter EB, Watkins DN, Nanda A, Vogelstein B, Kinzler KW, St Croix B. Cancer Res. 2001 Sep 15;61(18):6649–55. PubMed Europe PMC Scholia
  93. CrkRS: a novel conserved Cdc2-related protein kinase that colocalises with SC35 speckles. Ko TK, Kelly E, Pines J. J Cell Sci. 2001 Jul;114(Pt 14):2591–603. PubMed Europe PMC Scholia
  94. Dioxin induces a novel nuclear factor, DIF-3, that is implicated in spermatogenesis. Ohbayashi T, Oikawa K, Iwata R, Kameta A, Evine K, Isobe T, et al. FEBS Lett. 2001 Nov 23;508(3):341–4. PubMed Europe PMC Scholia
  95. Thyroid hormone receptor interacting protein 3 (trip3) is a novel coactivator of hepatocyte nuclear factor-4alpha. Iwahashi H, Yamagata K, Yoshiuchi I, Terasaki J, Yang Q, Fukui K, et al. Diabetes. 2002 Apr;51(4):910–4. PubMed Europe PMC Scholia
  96. The SOCS box: a tale of destruction and degradation. Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HME, Hilton DJ. Trends Biochem Sci. 2002 May;27(5):235–41. PubMed Europe PMC Scholia
  97. Characterization and tissue-specific expression of human GSK-3-binding proteins FRAT1 and FRAT2. Freemantle SJ, Portland HB, Ewings K, Dmitrovsky F, DiPetrillo K, Spinella MJ, et al. Gene. 2002 May 29;291(1–2):17–27. PubMed Europe PMC Scholia
  98. Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions. Price MG, Landsverk ML, Barral JM, Epstein HF. J Cell Sci. 2002 Nov 1;115(Pt 21):4013–23. PubMed Europe PMC Scholia
  99. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. Pei L, Peng Y, Yang Y, Ling XB, Van Eyndhoven WG, Nguyen KCQ, et al. Cancer Res. 2002 Oct 1;62(19):5420–4. PubMed Europe PMC Scholia
  100. Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers. Nezu M, Nishigaki M, Ishizuka T, Kuwahara Y, Tanabe C, Aoyagi K, et al. Jpn J Cancer Res. 2002 Nov;93(11):1183–6. PubMed Europe PMC Scholia
  101. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899–903. PubMed Europe PMC Scholia
  102. Chemokines: attractive mediators of the immune response. Wong MM, Fish EN. Semin Immunol. 2003 Feb;15(1):5–14. PubMed Europe PMC Scholia
  103. Roles of G beta gamma in membrane recruitment and activation of p110 gamma/p101 phosphoinositide 3-kinase gamma. Brock C, Schaefer M, Reusch HP, Czupalla C, Michalke M, Spicher K, et al. J Cell Biol. 2003 Jan 6;160(1):89–99. PubMed Europe PMC Scholia
  104. Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules. Goriounov D, Leung CL, Liem RKH. J Cell Sci. 2003 Mar 15;116(Pt 6):1045–58. PubMed Europe PMC Scholia
  105. The Tre2 (USP6) oncogene is a hominoid-specific gene. Paulding CA, Ruvolo M, Haber DA. Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2507–11. PubMed Europe PMC Scholia
  106. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. Zhang Z, Gerstein M. Genomics. 2003 May;81(5):468–80. PubMed Europe PMC Scholia
  107. GWT1 gene is required for inositol acylation of glycosylphosphatidylinositol anchors in yeast. Umemura M, Okamoto M, Nakayama K ichi, Sagane K, Tsukahara K, Hata K, et al. J Biol Chem. 2003 Jun 27;278(26):23639–47. PubMed Europe PMC Scholia
  108. MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain. Katoh M, Katoh M. Int J Oncol. 2003 Jun;22(6):1369–74. PubMed Europe PMC Scholia
  109. The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). Biermanns M, von Laar J, Brosius U, Gärtner J. Eur J Cell Biol. 2003 Apr;82(4):155–62. PubMed Europe PMC Scholia
  110. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. Genome Res. 2003 Oct;13(10):2265–70. PubMed Europe PMC Scholia
  111. PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor. Murakami Y, Siripanyapinyo U, Hong Y, Kang JY, Ishihara S, Nakakuma H, et al. Mol Biol Cell. 2003 Oct;14(10):4285–95. PubMed Europe PMC Scholia
  112. Overexpression of the amplified Pip4k2beta gene from 17q11-12 in breast cancer cells confers proliferation advantage. Luoh SW, Venkatesan N, Tripathi R. Oncogene. 2004 Feb 19;23(7):1354–63. PubMed Europe PMC Scholia
  113. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, et al. Nat Genet. 2004 Jan;36(1):40–5. PubMed Europe PMC Scholia
  114. Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. Katoh M, Katoh M. Int J Oncol. 2004 Apr;24(4):757–63. PubMed Europe PMC Scholia
  115. CCL3L1 and CCL4L1 chemokine genes are located in a segmental duplication at chromosome 17q12. Modi WS. Genomics. 2004 Apr;83(4):735–8. PubMed Europe PMC Scholia
  116. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, et al. Mol Genet Metab. 2004 May;82(1):27–32. PubMed Europe PMC Scholia
  117. Molecular cloning and characterization of LCRG1 a novel gene localized to the tumor suppressor locus D17S800-D17S930. Li Y, Chen Z. Cancer Lett. 2004 Jun 8;209(1):75–85. PubMed Europe PMC Scholia
  118. Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment. Coumailleau F, Das V, Alcover A, Raposo G, Vandormael-Pournin S, Le Bras S, et al. Mol Biol Cell. 2004 Oct;15(10):4444–56. PubMed Europe PMC Scholia
  119. Identification and characterization of human ARHGAP23 gene in silico. Katoh M, Katoh M. Int J Oncol. 2004 Aug;25(2):535–40. PubMed Europe PMC Scholia
  120. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. Genome Res. 2004 Oct;14(10B):2121–7. PubMed Europe PMC Scholia
  121. RDM1, a novel RNA recognition motif (RRM)-containing protein involved in the cell response to cisplatin in vertebrates. Hamimes S, Arakawa H, Stasiak AZ, Kierzek AM, Hirano S, Yang YG, et al. J Biol Chem. 2005 Mar 11;280(10):9225–35. PubMed Europe PMC Scholia
  122. Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma. Simon-Kayser B, Scoul C, Renaudin K, Jezequel P, Bouchot O, Rigaud J, et al. Genes Chromosomes Cancer. 2005 May;43(1):83–94. PubMed Europe PMC Scholia
  123. Multiple products derived from two CCL4 loci: high incidence of a new polymorphism in HIV+ patients. Colobran R, Adreani P, Ashhab Y, Llano A, Esté JA, Dominguez O, et al. J Immunol. 2005 May 1;174(9):5655–64. PubMed Europe PMC Scholia
  124. Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. Linnebank M, Lagler F, Muntau AC, Röschinger W, Olgemöller B, Fowler B, et al. J Inherit Metab Dis. 2005;28(6):1167–8. PubMed Europe PMC Scholia
  125. Crystal structure and site 1 binding energetics of human placental lactogen. Walsh STR, Kossiakoff AA. J Mol Biol. 2006 May 5;358(3):773–84. PubMed Europe PMC Scholia
  126. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, et al. Nature. 2006 Apr 20;440(7087):1045–9. PubMed Europe PMC Scholia
  127. Twenty years of nuclear receptors: Conference on Nuclear Receptors: from Chromatin to Disease. Nagy L, Schüle R, Gronemeyer H. EMBO Rep. 2006 Jun;7(6):579–84. PubMed Europe PMC Scholia
  128. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X, Stahl PD. Genomics. 2006 Dec;88(6):731–6. PubMed Europe PMC Scholia
  129. PER1 is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins. Fujita M, Umemura M, Yoko-o T, Jigami Y. Mol Biol Cell. 2006 Dec;17(12):5253–64. PubMed Europe PMC Scholia
  130. Cloning and characterization of a novel small monomeric GTPase, RasL10B, with tumor suppressor potential. Zou H, Hu L, Li J, Zhan S, Cao K. Biotechnol Lett. 2006 Dec;28(23):1901–8. PubMed Europe PMC Scholia
  131. C35 (C17orf37) is a novel tumor biomarker abundantly expressed in breast cancer. Evans EE, Henn AD, Jonason A, Paris MJ, Schiffhauer LM, Borrello MA, et al. Mol Cancer Ther. 2006 Nov;5(11):2919–30. PubMed Europe PMC Scholia
  132. Fatty acid remodeling of GPI-anchored proteins is required for their raft association. Maeda Y, Tashima Y, Houjou T, Fujita M, Yoko-o T, Jigami Y, et al. Mol Biol Cell. 2007 Apr;18(4):1497–506. PubMed Europe PMC Scholia
  133. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. Wiley SE, Murphy AN, Ross SA, van der Geer P, Dixon JE. Proc Natl Acad Sci U S A. 2007 Mar 27;104(13):5318–23. PubMed Europe PMC Scholia
  134. SelT, SelW, SelH, and Rdx12: genomics and molecular insights into the functions of selenoproteins of a novel thioredoxin-like family. Dikiy A, Novoselov SV, Fomenko DE, Sengupta A, Carlson BA, Cerny RL, et al. Biochemistry. 2007 Jun 12;46(23):6871–82. PubMed Europe PMC Scholia
  135. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. Wiley SE, Paddock ML, Abresch EC, Gross L, van der Geer P, Nechushtai R, et al. J Biol Chem. 2007 Aug 17;282(33):23745–9. PubMed Europe PMC Scholia
  136. Drawing the tree of eukaryotic life based on the analysis of 2,269 manually annotated myosins from 328 species. Odronitz F, Kollmar M. Genome Biol. 2007;8(9):R196. PubMed Europe PMC Scholia
  137. Regulation of cyclin D1 RNA stability by SNIP1. Bracken CP, Wall SJ, Barré B, Panov KI, Ajuh PM, Perkins ND. Cancer Res. 2008 Sep 15;68(18):7621–8. PubMed Europe PMC Scholia
  138. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, et al. Chem Biol Interact. 2009 Mar 16;178(1–3):94–8. PubMed Europe PMC Scholia
  139. Cyclin-dependent kinases: a family portrait. Malumbres M, Harlow E, Hunt T, Hunter T, Lahti JM, Manning G, et al. Nat Cell Biol. 2009 Nov;11(11):1275–6. PubMed Europe PMC Scholia
  140. Human Myo19 is a novel myosin that associates with mitochondria. Quintero OA, DiVito MM, Adikes RC, Kortan MB, Case LB, Lier AJ, et al. Curr Biol. 2009 Dec 15;19(23):2008–13. PubMed Europe PMC Scholia
  141. The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome. Fabrizio P, Dannenberg J, Dube P, Kastner B, Stark H, Urlaub H, et al. Mol Cell. 2009 Nov 25;36(4):593–608. PubMed Europe PMC Scholia
  142. On the mechanism of preprotein import by the mitochondrial presequence translocase. van der Laan M, Hutu DP, Rehling P. Biochim Biophys Acta. 2010 Jun;1803(6):732–9. PubMed Europe PMC Scholia
  143. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, et al. Diabetes Care. 2010 Oct;33(10):2250–3. PubMed Europe PMC Scholia
  144. Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. Schmucker S, Martelli A, Colin F, Page A, Wattenhofer-Donzé M, Reutenauer L, et al. PLoS One. 2011 Jan 26;6(1):e16199. PubMed Europe PMC Scholia
  145. From differential induction of UDP-glucuronosyltransferases in rat liver to characterization of responsible ligand-activated transcription factors, and their multilevel crosstalk in humans. Bock KW. Biochem Pharmacol. 2011 Jul 1;82(1):9–16. PubMed Europe PMC Scholia
  146. Af17 deficiency increases sodium excretion and decreases blood pressure. Chen L, Wu H, Pochynyuk OM, Reisenauer MR, Zhang Z, Huang L, et al. J Am Soc Nephrol. 2011 Jun;22(6):1076–86. PubMed Europe PMC Scholia
  147. Prenylated c17orf37 induces filopodia formation to promote cell migration and metastasis. Dasgupta S, Cushman I, Kpetemey M, Casey PJ, Vishwanatha JK. J Biol Chem. 2011 Jul 22;286(29):25935–46. PubMed Europe PMC Scholia
  148. Regulation of skeletal muscle growth by the IGF1-Akt/PKB pathway: insights from genetic models. Schiaffino S, Mammucari C. Skelet Muscle. 2011 Jan 24;1(1):4. PubMed Europe PMC Scholia
  149. An overview of the c-MET signaling pathway. Organ SL, Tsao MS. Ther Adv Med Oncol. 2011 Nov;3(1 Suppl):S7–19. PubMed Europe PMC Scholia
  150. “Orphan” retrogenes in the human genome. Ciomborowska J, Rosikiewicz W, Szklarczyk D, Makałowski W, Makałowska I. Mol Biol Evol. 2013 Feb;30(2):384–96. PubMed Europe PMC Scholia
  151. Alternative end-joining mechanisms: a historical perspective. Decottignies A. Front Genet. 2013 Apr 2;4:48. PubMed Europe PMC Scholia
  152. The schlafen family of proteins and their regulation by interferons. Mavrommatis E, Fish EN, Platanias LC. J Interferon Cytokine Res. 2013 Apr;33(4):206–10. PubMed Europe PMC Scholia
  153. Mitochondrial ribosomal RNA (rRNA) methyltransferase family members are positioned to modify nascent rRNA in foci near the mitochondrial DNA nucleoid. Lee KW, Okot-Kotber C, LaComb JF, Bogenhagen DF. J Biol Chem. 2013 Oct 25;288(43):31386–99. PubMed Europe PMC Scholia
  154. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, et al. Eur J Hum Genet. 2014 Nov;22(11):1290–7. PubMed Europe PMC Scholia
  155. Reciprocal interactions of human C10orf12 and C17orf96 with PRC2 revealed by BioTAP-XL cross-linking and affinity purification. Alekseyenko AA, Gorchakov AA, Kharchenko PV, Kuroda MI. Proc Natl Acad Sci U S A. 2014 Feb 18;111(7):2488–93. PubMed Europe PMC Scholia
  156. Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import. Okumoto K, Noda H, Fujiki Y. J Biol Chem. 2014 May 16;289(20):14089–108. PubMed Europe PMC Scholia
  157. FBXL20-mediated Vps34 ubiquitination as a p53 controlled checkpoint in regulating autophagy and receptor degradation. Xiao J, Zhang T, Xu D, Wang H, Cai Y, Jin T, et al. Genes Dev. 2015 Jan 15;29(2):184–96. PubMed Europe PMC Scholia
  158. An update on the LIM and SH3 domain protein 1 (LASP1): a versatile structural, signaling, and biomarker protein. Orth MF, Cazes A, Butt E, Grunewald TGP. Oncotarget. 2015 Jan 1;6(1):26–42. PubMed Europe PMC Scholia
  159. Structures of the Gβ-CCT and PhLP1-Gβ-CCT complexes reveal a mechanism for G-protein β-subunit folding and Gβγ dimer assembly. Plimpton RL, Cuéllar J, Lai CWJ, Aoba T, Makaju A, Franklin S, et al. Proc Natl Acad Sci U S A. 2015 Feb 24;112(8):2413–8. PubMed Europe PMC Scholia
  160. The nuclear pore complex--structure and function at a glance. Kabachinski G, Schwartz TU. J Cell Sci. 2015 Feb 1;128(3):423–9. PubMed Europe PMC Scholia
  161. Introduction to Lipids and Lipoproteins. Feingold KR. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2021. PubMed Europe PMC Scholia
  162. Human disorders of peroxisome metabolism and biogenesis. Waterham HR, Ferdinandusse S, Wanders RJA. Biochim Biophys Acta. 2016 May;1863(5):922–33. PubMed Europe PMC Scholia
  163. EPOP Functionally Links Elongin and Polycomb in Pluripotent Stem Cells. Beringer M, Pisano P, Di Carlo V, Blanco E, Chammas P, Vizán P, et al. Mol Cell. 2016 Nov 17;64(4):645–58. PubMed Europe PMC Scholia
  164. EPOP Interacts with Elongin BC and USP7 to Modulate the Chromatin Landscape. Liefke R, Karwacki-Neisius V, Shi Y. Mol Cell. 2016 Nov 17;64(4):659–72. PubMed Europe PMC Scholia
  165. Hepatitis B virus molecular biology and pathogenesis. Lamontagne RJ, Bagga S, Bouchard MJ. Hepatoma Res. 2016;2:163–86. PubMed Europe PMC Scholia
  166. TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules. Sanchez-Pulido L, Ponting CP. Bioinformatics. 2018 Mar 1;34(5):721–4. PubMed Europe PMC Scholia
  167. Deconstructing networks of p53-mediated tumor suppression in vivo. Kaiser AM, Attardi LD. Cell Death Differ. 2018 Jan;25(1):93–103. PubMed Europe PMC Scholia
  168. Structure of Schlafen13 reveals a new class of tRNA/rRNA- targeting RNase engaged in translational control. Yang JY, Deng XY, Li YS, Ma XC, Feng JX, Yu B, et al. Nat Commun. 2018 Mar 21;9(1):1165. PubMed Europe PMC Scholia
  169. Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation. Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV. RNA. 2018 Jul;24(7):939–49. PubMed Europe PMC Scholia
  170. Schlafen 12 Interaction with SerpinB12 and Deubiquitylases Drives Human Enterocyte Differentiation. Basson MD, Wang Q, Chaturvedi LS, More S, Vomhof-DeKrey EE, Al-Marsoummi S, et al. Cell Physiol Biochem. 2018;48(3):1274–90. PubMed Europe PMC Scholia
  171. Deciphering the three-domain architecture in schlafens and the structures and roles of human schlafen12 and serpinB12 in transcriptional regulation. Chen J, Kuhn LA. J Mol Graph Model. 2019 Jul;90:59–76. PubMed Europe PMC Scholia
  172. Identification of ApoA4 as a sphingosine 1-phosphate chaperone in ApoM- and albumin-deficient mice. Obinata H, Kuo A, Wada Y, Swendeman S, Liu CH, Blaho VA, et al. J Lipid Res. 2019 Nov;60(11):1912–21. PubMed Europe PMC Scholia