WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Author:

Sorokina Elena A.,Reis Linda M.,Thompson Samuel,Agre Katherine,Babovic-Vuksanovic Dusica,Ellingson Marissa S.,Hasadsri Linda,van Bever Yolande,Semina Elena V.ORCID

Funder

National Eye Institute

National Institute of Child Health and Human Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference38 articles.

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2. Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M (2018) Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. BMC Ophthalmol 18:147. https://doi.org/10.1186/s12886-018-0820-4

3. Atkins KM, Thomas LL, Barroso-Gonzalez J, Thomas L, Auclair S, Yin J, Kang H, Chung JH, Dikeakos JD, Thomas G (2014) The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest. Cell Rep 8:1545–1557. https://doi.org/10.1016/j.celrep.2014.07.049

4. Crump CM, Xiang Y, Thomas L, Gu F, Austin C, Tooze SA, Thomas G (2001) PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic. EMBO J 20:2191–2201. https://doi.org/10.1093/emboj/20.9.2191

5. Formstecher E, Aresta S, Collura V, Hamburger A, Meil A, Trehin A, Reverdy C, Betin V, Maire S, Brun C, Jacq B, Arpin M, Bellaiche Y, Bellusci S, Benaroch P, Bornens M, Chanet R, Chavrier P, Delattre O, Doye V, Fehon R, Faye G, Galli T, Girault JA, Goud B, de Gunzburg J, Johannes L, Junier MP, Mirouse V, Mukherjee A, Papadopoulo D, Perez F, Plessis A, Rosse C, Saule S, Stoppa-Lyonnet D, Vincent A, White M, Legrain P, Wojcik J, Camonis J, Daviet L (2005) Protein interaction mapping: a Drosophila case study. Genome Res 15:376–384. https://doi.org/10.1101/gr.2659105

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