19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system-Reference-Cited by-同舟云学术

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19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system

Published:2018-06 Issue:6 Volume:1864 Page:2108-2118
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Zhao Kexin,van der Spoel Aarnoud,Castiglioni Claudia,Gale Sarah,Fujiwara Hideji,Ory Daniel S.,Ridgway Neale D.

Funder

Canadian Institutes for Health Research

IWK Health Centre

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference33 articles.

1. Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients;Chowdhury;Am. J. Med. Genet. A,2014

2. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation;Malan;J. Med. Genet.,2009

3. 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias;Gana;Eur. J. Hum. Genet.,2012

4. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia;Meyer;Nat. Genet.,2017

5. Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb;Schuurs-Hoeijmakers;J. Med. Genet.,2009

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1. Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders;Frontiers in Genetics;2023-03-07

2. Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies;Frontiers in Cell and Developmental Biology;2023-02-27

3. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation;Brain;2020-11-01

4. Update on KMT2B-Related Dystonia;Current Neurology and Neuroscience Reports;2019-11

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