Literature DB >> 25880334

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn.   

Abstract

Entities:  

Year:  2015        PMID： 25880334      PMCID： PMC4402643          DOI： 10.1038/ejhg.2014.278

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  5 in total

1.  The hepatic WASH complex is required for efficient plasma LDL and HDL cholesterol clearance.

Authors:  Melinde Wijers; Paolo Zanoni; Nalan Liv; Dyonne Y Vos; Michelle Y Jäckstein; Marieke Smit; Sanne Wilbrink; Justina C Wolters; Ydwine T van der Veen; Nicolette Huijkman; Daphne Dekker; Niels Kloosterhuis; Theo H van Dijk; Daniel D Billadeau; Folkert Kuipers; Judith Klumperman; Arnold von Eckardstein; Jan Albert Kuivenhoven; Bart van de Sluis
Journal:  JCI Insight       Date:  2019-06-06

2.  [Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].

Authors:  Yan-Ting Liang; Hui-Yun Jiang; Hua-Yu Fu
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-10

3.  CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.

Authors:  Paulina Bartuzi; Daniel D Billadeau; Robert Favier; Shunxing Rong; Daphne Dekker; Alina Fedoseienko; Hille Fieten; Melinde Wijers; Johannes H Levels; Nicolette Huijkman; Niels Kloosterhuis; Henk van der Molen; Gemma Brufau; Albert K Groen; Alison M Elliott; Jan Albert Kuivenhoven; Barbara Plecko; Gernot Grangl; Julie McGaughran; Jay D Horton; Ezra Burstein; Marten H Hofker; Bart van de Sluis
Journal:  Nat Commun       Date:  2016-03-11       Impact factor: 14.919

Review 4.  Endosomal Recycling Defects and Neurodevelopmental Disorders.

Authors:  Shinji Saitoh
Journal:  Cells       Date:  2022-01-03       Impact factor: 6.600

Review 5.  Craniofacial Diseases Caused by Defects in Intracellular Trafficking.

Authors:  Chung-Ling Lu; Jinoh Kim
Journal:  Genes (Basel)       Date:  2021-05-13       Impact factor: 4.096
  5 in total

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