ID Database Citation
1315307 Pubmed "Cutting GR, Curristin S, Zoghbi H, O’Hara B, Seldin MF, Uhl GR. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 1992 Apr;12(4):801–6. PubMed Europe PMC Scholia"
1321750 Pubmed "Wingrove P, Hadingham K, Wafford K, Kemp JA, Ragan CI, Whiting P. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. Biochem Soc Trans. 1992 Feb;20(1):18S. PubMed Europe PMC Scholia"
1379744 Pubmed "Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797–800. PubMed Europe PMC Scholia"
1656976 Pubmed "Ma JY, Song YH, Sjöstrand SE, Rask L, Mårdh S. cDNA cloning of the beta-subunit of the human gastric H,K-ATPase. Biochem Biophys Res Commun. 1991 Oct 15;180(1):39–45. PubMed Europe PMC Scholia"
1664410 Pubmed "Wagstaff J, Chaillet JR, Lalande M. The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991 Dec;11(4):1071–8. PubMed Europe PMC Scholia"
1849271 Pubmed "Cutting GR, Lu L, O’Hara BF, Kasch LM, Montrose-Rafizadeh C, Donovan DM, et al. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2673–7. PubMed Europe PMC Scholia"
2154449 Pubmed "Sato M, Schilsky ML, Stockert RJ, Morell AG, Sternlieb I. Detection of multiple forms of human ceruloplasmin. A novel Mr 200,000 form. J Biol Chem. 1990 Feb 15;265(5):2533–7. PubMed Europe PMC Scholia"
2155780 Pubmed "Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, et al. Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J. 1990 Mar;9(3):771–6. PubMed Europe PMC Scholia"
2160952 Pubmed "Maeda M, Oshiman K, Tamura S, Futai M. Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region. J Biol Chem. 1990 Jun 5;265(16):9027–32. PubMed Europe PMC Scholia"
2298749 Pubmed "Zorzato F, Fujii J, Otsu K, Phillips M, Green NM, Lai FA, et al. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem. 1990 Feb 5;265(4):2244–56. PubMed Europe PMC Scholia"
2321095 Pubmed "Fujii J, Willard HF, MacLennan DH. Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene. Somat Cell Mol Genet. 1990 Mar;16(2):185–9. PubMed Europe PMC Scholia"
2430951 Pubmed "Kawakami K, Ohta T, Nojima H, Nagano K. Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence. J Biochem. 1986 Aug;100(2):389–97. PubMed Europe PMC Scholia"
2465923 Pubmed "Schofield PR, Pritchett DB, Sontheimer H, Kettenmann H, Seeburg PH. Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. 1989 Feb 27;244(2):361–4. PubMed Europe PMC Scholia"
2477373 Pubmed "Shull MM, Pugh DG, Lingrel JB. Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. J Biol Chem. 1989 Oct 15;264(29):17532–43. PubMed Europe PMC Scholia"
2559024 Pubmed "Lane LK, Shull MM, Whitmer KR, Lingrel JB. Characterization of two genes for the human Na,K-ATPase beta subunit. Genomics. 1989 Oct;5(3):445–53. PubMed Europe PMC Scholia"
2838329 Pubmed "Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Melkov AM, Smirnov YuV, et al. Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein. FEBS Lett. 1988 Jun 6;233(1):87–94. PubMed Europe PMC Scholia"
2844759 Pubmed "Verma AK, Filoteo AG, Stanford DR, Wieben ED, Penniston JT, Strehler EE, et al. Complete primary structure of a human plasma membrane Ca2+ pump. J Biol Chem. 1988 Oct 5;263(28):14152–9. PubMed Europe PMC Scholia"
2847710 Pubmed "Garrett KM, Duman RS, Saito N, Blume AJ, Vitek MP, Tallman JF. Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor. Biochem Biophys Res Commun. 1988 Oct 31;156(2):1039–45. PubMed Europe PMC Scholia"
2953725 Pubmed "Spamer C, Heilmann C, Gerok W. Ca2+-activated ATPase in microsomes from human liver. J Biol Chem. 1987 Jun 5;262(16):7782–9. PubMed Europe PMC Scholia"
5961668 Pubmed "Schatzmann HJ. ATP-dependent Ca++-extrusion from human red cells. Experientia. 1966 Jun 15;22(6):364–5. PubMed Europe PMC Scholia"
6141558 Pubmed "Willingham MC, Hanover JA, Dickson RB, Pastan I. Morphologic characterization of the pathway of transferrin endocytosis and recycling in human KB cells. Proc Natl Acad Sci U S A. 1984 Jan;81(1):175–9. PubMed Europe PMC Scholia"
6309857 Pubmed "Harding C, Heuser J, Stahl P. Receptor-mediated endocytosis of transferrin and recycling of the transferrin receptor in rat reticulocytes. J Cell Biol. 1983 Aug;97(2):329–39. PubMed Europe PMC Scholia"
7565620 Pubmed "Miyake A, Mochizuki S, Takemoto Y, Akuzawa S. Molecular cloning of human 5-hydroxytryptamine3 receptor: heterogeneity in distribution and function among species. Mol Pharmacol. 1995 Sep;48(3):407–16. PubMed Europe PMC Scholia"
7588753 Pubmed "Taske NL, Eyre HJ, O’Brien RO, Sutherland GR, Denborough MA, Foster PS. Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23. Eur J Biochem. 1995 Oct 1;233(1):258–65. PubMed Europe PMC Scholia"
7626145 Pubmed "Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995 Feb;9(2):210–7. PubMed Europe PMC Scholia"
7665160 Pubmed "Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A. Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics. 1995 May 1;27(1):131–41. PubMed Europe PMC Scholia"
7702581 Pubmed "Bokkala S, el-Daher SS, Kakkar VV, Wuytack F, Authi KS. 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. Biochem J. 1995 Mar 15;306 ( Pt 3)(Pt 3):837–42. PubMed Europe PMC Scholia"
7795595 Pubmed "Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR. Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum Mol Genet. 1995 Mar;4(3):407–13. PubMed Europe PMC Scholia"
8041726 Pubmed "Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch TJ. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):6943–7. PubMed Europe PMC Scholia"
8045293 Pubmed "Grishin AV, Sverdlov VE, Kostina MB, Modyanov NN. Cloning and characterization of the entire cDNA encoded by ATP1AL1--a member of the human Na,K/H,K-ATPase gene family. FEBS Lett. 1994 Jul 25;349(1):144–50. PubMed Europe PMC Scholia"
8112288 Pubmed "Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994 Feb 15;13(4):737–43. PubMed Europe PMC Scholia"
8264558 Pubmed "Hadingham KL, Wingrove PB, Wafford KA, Bain C, Kemp JA, Palmer KJ, et al. Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors. Mol Pharmacol. 1993 Dec;44(6):1211–8. PubMed Europe PMC Scholia"
8298639 Pubmed "Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993 Dec;5(4):327–37. PubMed Europe PMC Scholia"
8382267 Pubmed "Khan ZU, Fernando LP, Escribá P, Busquets X, Mallet J, Miralles CP, et al. Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor. J Neurochem. 1993 Mar;60(3):961–71. PubMed Europe PMC Scholia"
8383669 Pubmed "Taglicht D, Padan E, Schuldiner S. Proton-sodium stoichiometry of NhaA, an electrogenic antiporter from Escherichia coli. J Biol Chem. 1993 Mar 15;268(8):5382–7. PubMed Europe PMC Scholia"
8391122 Pubmed "Hadingham KL, Wingrove P, Le Bourdelles B, Palmer KJ, Ragan CI, Whiting PJ. Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. Mol Pharmacol. 1993 Jun;43(6):970–5. PubMed Europe PMC Scholia"
8490646 Pubmed "Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet. 1993 Jan;3(1):14–9. PubMed Europe PMC Scholia"
8490659 Pubmed "Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993 Jan;3(1):7–13. PubMed Europe PMC Scholia"
8533761 Pubmed "Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet. 1995 Dec;57(6):1325–34. PubMed Europe PMC Scholia"
8544406 Pubmed "Takeuchi Y, Uchida S, Marumo F, Sasaki S. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. Kidney Int. 1995 Nov;48(5):1497–503. PubMed Europe PMC Scholia"
8626462 Pubmed "Price MP, Snyder PM, Welsh MJ. Cloning and expression of a novel human brain Na+ channel. J Biol Chem. 1996 Apr 5;271(14):7879–82. PubMed Europe PMC Scholia"
8632757 Pubmed "Hadingham KL, Garrett EM, Wafford KA, Bain C, Heavens RP, Sirinathsinghji DJ, et al. Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. Mol Pharmacol. 1996 Feb;49(2):253–9. PubMed Europe PMC Scholia"
8695634 Pubmed "Harrison PM, Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta. 1996 Jul 31;1275(3):161–203. PubMed Europe PMC Scholia"
8717357 Pubmed "Handford CA, Lynch JW, Baker E, Webb GC, Ford JH, Sutherland GR, et al. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res Mol Brain Res. 1996 Jan;35(1–2):211–9. PubMed Europe PMC Scholia"
8719414 Pubmed "Hadingham KL, Wafford KA, Thompson SA, Palmer KJ, Whiting PJ. Expression and pharmacology of human GABAA receptors containing gamma 3 subunits. Eur J Pharmacol. 1995 Nov 30;291(3):301–9. PubMed Europe PMC Scholia"
8719416 Pubmed "Yang W, Drewe JA, Lan NC. Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site. Eur J Pharmacol. 1995 Nov 30;291(3):319–25. PubMed Europe PMC Scholia"
8798450 Pubmed "Malik N, Canfield VA, Beckers MC, Gros P, Levenson R. Identification of the mammalian Na,K-ATPase 3 subunit. J Biol Chem. 1996 Sep 13;271(37):22754–8. PubMed Europe PMC Scholia"
8809036 Pubmed "Tunwell RE, Wickenden C, Bertrand BM, Shevchenko VI, Walsh MB, Allen PD, et al. The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis. Biochem J. 1996 Sep 1;318 ( Pt 2)(Pt 2):477–87. PubMed Europe PMC Scholia"
8918259 Pubmed "Ruiz A, Bhat SP, Bok D. Expression and synthesis of the Na,K-ATPase beta 2 subunit in human retinal pigment epithelium. Gene. 1996 Oct 17;176(1–2):237–42. PubMed Europe PMC Scholia"
9037075 Pubmed "García-Añoveros J, Derfler B, Neville-Golden J, Hyman BT, Corey DP. BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. Proc Natl Acad Sci U S A. 1997 Feb 18;94(4):1459–64. PubMed Europe PMC Scholia"
9147644 Pubmed "Dierick HA, Adam AN, Escara-Wilke JF, Glover TW. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum Mol Genet. 1997 Mar;6(3):409–16. PubMed Europe PMC Scholia"
9307043 Pubmed "Yang XL, Miura N, Kawarada Y, Terada K, Petrukhin K, Gilliam T, et al. Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. Biochem J. 1997 Sep 15;326 ( Pt 3)(Pt 3):897–902. PubMed Europe PMC Scholia"
9395096 Pubmed "Nakashima Y, Nishimura S, Maeda A, Barsoumian EL, Hakamata Y, Nakai J, et al. Molecular cloning and characterization of a human brain ryanodine receptor. FEBS Lett. 1997 Nov 3;417(1):157–62. PubMed Europe PMC Scholia"
9571199 Pubmed "Ishibashi K, Marumo F. Molecular cloning of a DEG/ENaC sodium channel cDNA from human testis. Biochem Biophys Res Commun. 1998 Apr 17;245(2):589–93. PubMed Europe PMC Scholia"
9662395 Pubmed "Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241–7. PubMed Europe PMC Scholia"
9677400 Pubmed "Nikolic Z, Laube B, Weber RG, Lichter P, Kioschis P, Poustka A, et al. The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. J Biol Chem. 1998 Jul 31;273(31):19708–14. PubMed Europe PMC Scholia"
9700209 Pubmed "Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best’s disease). Hum Mol Genet. 1998 Sep;7(9):1517–25. PubMed Europe PMC Scholia"
9719863 Pubmed "Horisberger JD. Amiloride-sensitive Na channels. Curr Opin Cell Biol. 1998 Aug;10(4):443–9. PubMed Europe PMC Scholia"
9744806 Pubmed "de Weille JR, Bassilana F, Lazdunski M, Waldmann R. Identification, functional expression and chromosomal localisation of a sustained human proton-gated cation channel. FEBS Lett. 1998 Aug 21;433(3):257–60. PubMed Europe PMC Scholia"
9950429 Pubmed "Davies PA, Pistis M, Hanna MC, Peters JA, Lambert JJ, Hales TG, et al. The 5-HT3B subunit is a major determinant of serotonin-receptor function. Nature. 1999 Jan 28;397(6717):359–63. PubMed Europe PMC Scholia"
10401004 Pubmed "Ambrosini L, Mercer JF. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet. 1999 Aug;8(8):1547–55. PubMed Europe PMC Scholia"
10484781 Pubmed "Petris MJ, Mercer JF. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. Hum Mol Genet. 1999 Oct;8(11):2107–15. PubMed Europe PMC Scholia"
10542332 Pubmed "Bailey ME, Albrecht BE, Johnson KJ, Darlison MG. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. Biochim Biophys Acta. 1999 Oct 28;1447(2–3):307–12. PubMed Europe PMC Scholia"
10564087 Pubmed "Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S. Identification of an acid-activated Cl(-) channel from human skeletal muscles. Am J Physiol. 1999 Nov;277(5):C948-54. PubMed Europe PMC Scholia"
10615129 Pubmed "Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000 Jan;24(1):61–5. PubMed Europe PMC Scholia"
10625641 Pubmed "Tandy S, Williams M, Leggett A, Lopez-Jimenez M, Dedes M, Ramesh B, et al. Nramp2 expression is associated with pH-dependent iron uptake across the apical membrane of human intestinal Caco-2 cells. J Biol Chem. 2000 Jan 14;275(2):1023–9. PubMed Europe PMC Scholia"
10642508 Pubmed "Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ. Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits. Biochem J. 2000 Feb 1;345 Pt 3(Pt 3):503–9. PubMed Europe PMC Scholia"
10720933 Pubmed "Staub O, Abriel H, Plant P, Ishikawa T, Kanelis V, Saleki R, et al. Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination. Kidney Int. 2000 Mar;57(3):809–15. PubMed Europe PMC Scholia"
10767338 Pubmed "Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet. 2000 Apr 12;9(7):1131–40. PubMed Europe PMC Scholia"
10767424 Pubmed "Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E. Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine. FEBS Lett. 2000 Apr 14;471(2–3):205–10. PubMed Europe PMC Scholia"
10831588 Pubmed "Waldegger S, Jentsch TJ. Functional and structural analysis of ClC-K chloride channels involved in renal disease. J Biol Chem. 2000 Aug 11;275(32):24527–33. PubMed Europe PMC Scholia"
10950931 Pubmed "Campbell HD, Kamei M, Claudianos C, Woollatt E, Sutherland GR, Suzuki Y, et al. Human and mouse homologues of the Drosophila melanogaster tweety (tty) gene: a novel gene family encoding predicted transmembrane proteins. Genomics. 2000 Aug 15;68(1):89–92. PubMed Europe PMC Scholia"
11062458 Pubmed "Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet. 2000 Nov;26(3):265–6. PubMed Europe PMC Scholia"
11182090 Pubmed "Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, et al. Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus. Neuron. 2001 Jan;29(1):185–96. PubMed Europe PMC Scholia"
11588175 Pubmed "Voilley N, de Weille J, Mamet J, Lazdunski M. Nonsteroid anti-inflammatory drugs inhibit both the activity and the inflammation-induced expression of acid-sensing ion channels in nociceptors. J Neurosci. 2001 Oct 15;21(20):8026–33. PubMed Europe PMC Scholia"
11687798 Pubmed "Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310–4. PubMed Europe PMC Scholia"
11734858 Pubmed "Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29;414(6863):558–61. PubMed Europe PMC Scholia"
11800564 Pubmed "West AP Jr, Giannetti AM, Herr AB, Bennett MJ, Nangiana JS, Pierce JR, et al. Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. J Mol Biol. 2001 Oct 19;313(2):385–97. PubMed Europe PMC Scholia"
11904445 Pubmed "Sun H, Tsunenari T, Yau K-W, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008–13. PubMed Europe PMC Scholia"
12119109 Pubmed "Keryanov S, Gardner KL. Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. Gene. 2002 Jun 12;292(1–2):151–66. PubMed Europe PMC Scholia"
12907679 Pubmed "Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau K-W, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114–25. PubMed Europe PMC Scholia"
12953268 Pubmed "Vanmolkot KRJ, Kors EE, Hottenga J-J, Terwindt GM, Haan J, Hoefnagels WAJ, et al. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol. 2003 Sep;54(3):360–6. PubMed Europe PMC Scholia"
12958161 Pubmed "Zhang W, Mojsilovic-Petrovic J, Andrade MF, Zhang H, Ball M, Stanimirovic DB. The expression and functional characterization of ABCG2 in brain endothelial cells and vessels. FASEB J. 2003 Nov;17(14):2085–7. PubMed Europe PMC Scholia"
14576842 Pubmed "Doyle LA, Ross DD. Multidrug resistance mediated by the breast cancer resistance protein BCRP (ABCG2). Oncogene. 2003 Oct 20;22(47):7340–58. PubMed Europe PMC Scholia"
14584882 Pubmed "Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct;18(10):1740–7. PubMed Europe PMC Scholia"
14634667 Pubmed "Wang D, King SM, Quill TA, Doolittle LK, Garbers DL. A new sperm-specific Na+/H+ exchanger required for sperm motility and fertility. Nat Cell Biol. 2003 Dec;5(12):1117–22. PubMed Europe PMC Scholia"
15010458 Pubmed "Suzuki M, Mizuno A. A novel human Cl(-) channel family related to Drosophila flightless locus. J Biol Chem. 2004 May 21;279(21):22461–8. PubMed Europe PMC Scholia"
15024690 Pubmed "Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, et al. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. Am J Hum Genet. 2004 Apr;74(4):705–14. PubMed Europe PMC Scholia"
15044468 Pubmed "Krishnamurthy P, Ross DD, Nakanishi T, Bailey-Dell K, Zhou S, Mercer KE, et al. The stem cell marker Bcrp/ABCG2 enhances hypoxic cell survival through interactions with heme. J Biol Chem. 2004 Jun 4;279(23):24218–25. PubMed Europe PMC Scholia"
15044642 Pubmed "Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004 Mar 25;350(13):1314–9. PubMed Europe PMC Scholia"
15147738 Pubmed "Board PG, Coggan M, Watson S, Gage PW, Dulhunty AF. CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels. Int J Biochem Cell Biol. 2004 Aug;36(8):1599–612. PubMed Europe PMC Scholia"
15174025 Pubmed "Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, et al. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun;55(6):884–7. PubMed Europe PMC Scholia"
15260953 Pubmed "de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169–75. PubMed Europe PMC Scholia"
15369674 Pubmed "Quigley JG, Yang Z, Worthington MT, Phillips JD, Sabo KM, Sabath DE, et al. Identification of a human heme exporter that is essential for erythropoiesis. Cell. 2004 Sep 17;118(6):757–66. PubMed Europe PMC Scholia"
15504734 Pubmed "Hara-Chikuma M, Yang B, Sonawane ND, Sasaki S, Uchida S, Verkman AS. ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. J Biol Chem. 2005 Jan 14;280(2):1241–7. PubMed Europe PMC Scholia"
15505377 Pubmed "Melis D, Havelaar AC, Verbeek E, Smit GPA, Benedetti A, Mancini GMS, et al. NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. J Inherit Metab Dis. 2004;27(6):725–33. PubMed Europe PMC Scholia"
15692071 Pubmed "Schimanski LM, Drakesmith H, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood. 2005 May 15;105(10):4096–102. PubMed Europe PMC Scholia"
15831496 Pubmed "Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, et al. The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions. J Biol Chem. 2005 Jun 17;280(24):22800–8. PubMed Europe PMC Scholia"
15916532 Pubmed "Dulhunty AF, Pouliquin P, Coggan M, Gage PW, Board PG. A recently identified member of the glutathione transferase structural family modifies cardiac RyR2 substate activity, coupled gating and activation by Ca2+ and ATP. Biochem J. 2005 Aug 15;390(Pt 1):333–43. PubMed Europe PMC Scholia"
15919184 Pubmed "Paulusma CC, Oude Elferink RPJ. The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease. Biochim Biophys Acta. 2005 Jun 30;1741(1–2):11–24. PubMed Europe PMC Scholia"
16143108 Pubmed "Shayeghi M, Latunde-Dada GO, Oakhill JS, Laftah AH, Takeuchi K, Halliday N, et al. Identification of an intestinal heme transporter. Cell. 2005 Sep 9;122(5):789–801. PubMed Europe PMC Scholia"
16219661 Pubmed "Suzuki M. The Drosophila tweety family: molecular candidates for large-conductance Ca2+-activated Cl- channels. Exp Physiol. 2006 Jan;91(1):141–7. PubMed Europe PMC Scholia"
16227996 Pubmed "Ohgami RS, Campagna DR, Greer EL, Antiochos B, McDonald A, Chen J, et al. Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat Genet. 2005 Nov;37(11):1264–9. PubMed Europe PMC Scholia"
16274220 Pubmed "Griffiths TAM, Mauk AG, MacGillivray RTA. Recombinant expression and functional characterization of human hephaestin: a multicopper oxidase with ferroxidase activity. Biochemistry. 2005 Nov 15;44(45):14725–31. PubMed Europe PMC Scholia"
16510471 Pubmed "Turi JL, Wang X, McKie AT, Nozik-Grayck E, Mamo LB, Crissman K, et al. Duodenal cytochrome b: a novel ferrireductase in airway epithelial cells. Am J Physiol Lung Cell Mol Physiol. 2006 Aug;291(2):L272-80. PubMed Europe PMC Scholia"
16564538 Pubmed "Hémadi M, Ha-Duong N-T, El Hage Chahine J-M. The mechanism of iron release from the transferrin-receptor 1 adduct. J Mol Biol. 2006 May 12;358(4):1125–36. PubMed Europe PMC Scholia"
16609065 Pubmed "Ohgami RS, Campagna DR, McDonald A, Fleming MD. The Steap proteins are metalloreductases. Blood. 2006 Aug 15;108(4):1388–94. PubMed Europe PMC Scholia"
16793765 Pubmed "Wally J, Halbrooks PJ, Vonrhein C, Rould MA, Everse SJ, Mason AB, et al. The crystal structure of iron-free human serum transferrin provides insight into inter-lobe communication and receptor binding. J Biol Chem. 2006 Aug 25;281(34):24934–44. PubMed Europe PMC Scholia"
16813530 Pubmed "Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, et al. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J Bone Miner Res. 2006 Jul;21(7):1098–105. PubMed Europe PMC Scholia"
16849430 Pubmed "Scholl U, Hebeisen S, Janssen AGH, Müller-Newen G, Alekov A, Fahlke C. Barttin modulates trafficking and function of ClC-K channels. Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11411–6. PubMed Europe PMC Scholia"
16850186 Pubmed "Ye G, Chen C, Han D, Xiong X, Kong Y, Wan B, et al. Cloning of a novel human NHEDC1 (Na+/H+ exchanger like domain containing 1) gene expressed specifically in testis. Mol Biol Rep. 2006 Sep;33(3):175–80. PubMed Europe PMC Scholia"
17357072 Pubmed "Choudhury K, McQuillin A, Puri V, Pimm J, Datta S, Thirumalai S, et al. A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia. Am J Hum Genet. 2007 Apr;80(4):664–72. PubMed Europe PMC Scholia"
17392525 Pubmed "Niesler B, Walstab J, Combrink S, Möller D, Kapeller J, Rietdorf J, et al. Characterization of the novel human serotonin receptor subunits 5-HT3C,5-HT3D, and 5-HT3E. Mol Pharmacol. 2007 Jul;72(1):8–17. PubMed Europe PMC Scholia"
17398006 Pubmed "Zhu Y, Ripps H, Qian H. A single amino acid in the second transmembrane domain of GABA rho receptors regulates channel conductance. Neurosci Lett. 2007 May 17;418(2):205–9. PubMed Europe PMC Scholia"
17448995 Pubmed "Lu B, Su Y, Das S, Liu J, Xia J, Ren D. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. Cell. 2007 Apr 20;129(2):371–83. PubMed Europe PMC Scholia"
17486601 Pubmed "Han O, Kim E-Y. Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells. J Cell Biochem. 2007 Jul 1;101(4):1000–10. PubMed Europe PMC Scholia"
17662945 Pubmed "Adachi K, Oiwa K, Nishizaka T, Furuike S, Noji H, Itoh H, et al. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. Cell. 2007 Jul 27;130(2):309–21. PubMed Europe PMC Scholia"
17686774 Pubmed "Wakabayashi K, Nakagawa H, Tamura A, Koshiba S, Hoshijima K, Komada M, et al. Intramolecular disulfide bond is a critical check point determining degradative fates of ATP-binding cassette (ABC) transporter ABCG2 protein. J Biol Chem. 2007 Sep 21;282(38):27841–6. PubMed Europe PMC Scholia"
17881003 Pubmed "Kim E, Youn B, Kemper L, Campbell C, Milting H, Varsanyi M, et al. Characterization of human cardiac calsequestrin and its deleterious mutants. J Mol Biol. 2007 Nov 2;373(4):1047–57. PubMed Europe PMC Scholia"
18000046 Pubmed "Xiang M, Feng M, Muend S, Rao R. A human Na+/H+ antiporter sharing evolutionary origins with bacterial NhaA may be a candidate gene for essential hypertension. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18677–81. PubMed Europe PMC Scholia"
18063579 Pubmed "Zdebik AA, Zifarelli G, Bergsdorf E-Y, Soliani P, Scheel O, Jentsch TJ, et al. Determinants of anion-proton coupling in mammalian endosomal CLC proteins. J Biol Chem. 2008 Feb 15;283(7):4219–27. PubMed Europe PMC Scholia"
18194661 Pubmed "Oakhill JS, Marritt SJ, Gareta EG, Cammack R, McKie AT. Functional characterization of human duodenal cytochrome b (Cybrd1): Redox properties in relation to iron and ascorbate metabolism. Biochim Biophys Acta. 2008 Mar;1777(3):260–8. PubMed Europe PMC Scholia"
18259769 Pubmed "Kurz T, Terman A, Gustafsson B, Brunk UT. Lysosomes in iron metabolism, ageing and apoptosis. Histochem Cell Biol. 2008 Apr;129(4):389–406. PubMed Europe PMC Scholia"
18310267 Pubmed "Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182–6. PubMed Europe PMC Scholia"
18400985 Pubmed "Qu Z, Hartzell HC. Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. PubMed Europe PMC Scholia"
18449189 Pubmed "Graves AR, Curran PK, Smith CL, Mindell JA. The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes. Nature. 2008 Jun 5;453(7196):788–92. PubMed Europe PMC Scholia"
18662336 Pubmed "Donier E, Rugiero F, Jacob C, Wood JN. Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay. Eur J Neurosci. 2008 Jul;28(1):74–86. PubMed Europe PMC Scholia"
18724360 Pubmed "Yang YD, Cho H, Koo JY, Tak MH, Cho Y, Shim W-S, et al. TMEM16A confers receptor-activated calcium-dependent chloride conductance. Nature. 2008 Oct 30;455(7217):1210–5. PubMed Europe PMC Scholia"
18794901 Pubmed "Dong X-P, Cheng X, Mills E, Delling M, Wang F, Kurz T, et al. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature. 2008 Oct 16;455(7215):992–6. PubMed Europe PMC Scholia"
18815190 Pubmed "Rey MA, Duffy SP, Brown JK, Kennedy JA, Dick JE, Dror Y, et al. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. Haematologica. 2008 Nov;93(11):1617–26. PubMed Europe PMC Scholia"
19021540 Pubmed "Texel SJ, Xu X, Harris ZL. Ceruloplasmin in neurodegenerative diseases. Biochem Soc Trans. 2008 Dec;36(Pt 6):1277–81. PubMed Europe PMC Scholia"
19153159 Pubmed "Niemeyer MI, Cid LP, Yusef YR, Briones R, Sepúlveda FV. Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons. J Physiol. 2009 Apr 1;587(Pt 7):1387–400. PubMed Europe PMC Scholia"
19380724 Pubmed "Soundararajan R, Melters D, Shih I-C, Wang J, Pearce D. Epithelial sodium channel regulated by differential composition of a signaling complex. Proc Natl Acad Sci U S A. 2009 May 12;106(19):7804–9. PubMed Europe PMC Scholia"
19381358 Pubmed "Hower V, Mendes P, Torti FM, Laubenbacher R, Akman S, Shulaev V, et al. A general map of iron metabolism and tissue-specific subnetworks. Mol Biosyst. 2009 May;5(5):422–43. PubMed Europe PMC Scholia"
19387438 Pubmed "Calcraft PJ, Ruas M, Pan Z, Cheng X, Arredouani A, Hao X, et al. NAADP mobilizes calcium from acidic organelles through two-pore channels. Nature. 2009 May 28;459(7246):596–600. PubMed Europe PMC Scholia"
19452451 Pubmed "Chen H, Attieh ZK, Dang T, Huang G, van der Hee RM, Vulpe C. Decreased hephaestin expression and activity leads to decreased iron efflux from differentiated Caco2 cells. J Cell Biochem. 2009 Jul 1;107(4):803–8. PubMed Europe PMC Scholia"
19620632 Pubmed "Brailoiu E, Churamani D, Cai X, Schrlau MG, Brailoiu GC, Gao X, et al. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. J Cell Biol. 2009 Jul 27;186(2):201–9. PubMed Europe PMC Scholia"
19953639 Pubmed "Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, et al. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat. 2010 Jan;31(1):E1071-80. PubMed Europe PMC Scholia"
20466723 Pubmed "Neagoe I, Stauber T, Fidzinski P, Bergsdorf E-Y, Jentsch TJ. The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. J Biol Chem. 2010 Jul 9;285(28):21689–97. PubMed Europe PMC Scholia"
20495089 Pubmed "Richardson DR, Lane DJR, Becker EM, Huang ML-H, Whitnall M, Suryo Rahmanto Y, et al. Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol. Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10775–82. PubMed Europe PMC Scholia"
20525693 Pubmed "Heise CJ, Xu B, Deaton SL, Cha S-K, Cheng C-J, Earnest S, et al. Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members. J Biol Chem. 2010 Aug 13;285(33):25161–7. PubMed Europe PMC Scholia"
20538786 Pubmed "Fischer M, Janssen AGH, Fahlke C. Barttin activates ClC-K channel function by modulating gating. J Am Soc Nephrol. 2010 Aug;21(8):1281–9. PubMed Europe PMC Scholia"
20810651 Pubmed "Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, et al. Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. J Biol Chem. 2010 Nov 5;285(45):35123–32. PubMed Europe PMC Scholia"
21040849 Pubmed "Lu B, Zhang Q, Wang H, Wang Y, Nakayama M, Ren D. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. Neuron. 2010 Nov 4;68(3):488–99. PubMed Europe PMC Scholia"
21527911 Pubmed "Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J. 2011 Jun 1;30(11):2140–52. PubMed Europe PMC Scholia"
21984732 Pubmed "Scudieri P, Sondo E, Ferrera L, Galietta LJV. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. Exp Physiol. 2012 Feb;97(2):177–83. PubMed Europe PMC Scholia"
22946059 Pubmed "Tian Y, Schreiber R, Kunzelmann K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci. 2012 Nov 1;125(Pt 21):4991–8. PubMed Europe PMC Scholia"