4p16.3 copy number variation (WP5365)

Homo sapiens

Authors

Ewoud , Friederike Ehrhart , and Kristina Hanspers

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

References

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13. C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. Endele S, Nelkenbrecher C, Bördlein A, Schlickum S, Winterpacht A. Neurogenetics. 2011 May;12(2):155–63. PubMed Europe PMC Scholia
14. A TACC3/ch-TOG/clathrin complex stabilises kinetochore fibres by inter-microtubule bridging. Booth DG, Hood FE, Prior IA, Royle SJ. EMBO J. 2011 Mar 2;30(5):906–19. PubMed Europe PMC Scholia
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19. A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation. van de Weijer ML, Bassik MC, Luteijn RD, Voorburg CM, Lohuis MAM, Kremmer E, et al. Nat Commun. 2014 May 8;5:3832. PubMed Europe PMC Scholia
20. NCLX protein, but not LETM1, mediates mitochondrial Ca2+ extrusion, thereby limiting Ca2+-induced NAD(P)H production and modulating matrix redox state. De Marchi U, Santo-Domingo J, Castelbou C, Sekler I, Wiederkehr A, Demaurex N. J Biol Chem. 2014 Jul 18;289(29):20377–85. PubMed Europe PMC Scholia
21. How a homolog of high-fidelity replicases conducts mutagenic DNA synthesis. Lee YS, Gao Y, Yang W. Nat Struct Mol Biol. 2015 Apr;22(4):298–303. PubMed Europe PMC Scholia
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24. Depletion of Nsd2-mediated histone H3K36 methylation impairs adipose tissue development and function. Zhuang L, Jang Y, Park YK, Lee JE, Jain S, Froimchuk E, et al. Nat Commun. 2018 May 4;9(1):1796. PubMed Europe PMC Scholia
25. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, et al. Genet Med. 2021 Aug;23(8):1474–83. PubMed Europe PMC Scholia
26. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, et al. Am J Hum Genet. 2022 Sep 1;109(9):1692–712. PubMed Europe PMC Scholia
27. TMBIM5 is the Ca2+ /H+ antiporter of mammalian mitochondria. Austin S, Mekis R, Mohammed SEM, Scalise M, Wang WA, Galluccio M, et al. EMBO Rep. 2022 Dec 6;23(12):e54978. PubMed Europe PMC Scholia