Associated Papers
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Singla A et al.
Bmc Medical Genomics, 2025
Structure and interactions of the endogenous human Commander complex.
Laulumaa S et al.
Nature Structural & Molecular Biology, 2024
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome.
Healy MD et al.
Cell, 2023
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Rodgers J et al.
American Journal of Medical Genetics. Part A, 2022
[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].
Liang YT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.
Yamashita Y et al.
International Journal of Hematology, 2019
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
Pira-Paredes SM et al.
Revista De Neurologia, 2017
Systems-wide Studies Uncover Commander, a Multiprotein Complex Essential to Human Development.
Mallam AL et al.
Cell Systems, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Bartuzi P et al.
Nature Communications, 2016
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M et al.
European Journal of Human Genetics : Ejhg, 2015
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