A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma-Reference-Cited by-同舟云学术

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Published:2005-08 Issue:2 Volume:77 Page:242-251
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Sprecher Eli,Ishida-Yamamoto Akemi,Mizrahi-Koren Mordechai,Rapaport Debora,Goldsher Dorit,Indelman Margarita,Topaz Orit,Chefetz Ilana,Keren Hanni,O’Brien Timothy J.,Bercovich Dani,Shalev Stavit,Geiger Dan,Bergman Reuven,Horowitz Mia,Mandel Hanna

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Identification of the homologous beige and Chediak-Higashi syndrome genes;Barbosa;Nature,1996

2. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A;Bercovich;Genet Test,2003

3. The mechanisms of vesicle budding and fusion;Bonifacino;Cell,2004

4. Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA having a defective origin of DNA replication;Canaani;Somat Cell Mol Genet,1986

5. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7;Caubet;J Invest Dermatol,2004

Cited by 167 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma;Genetics in Medicine;2024-07

2. Risk of meningomyelocele mediated by the common 22q11.2 deletion;Science;2024-05-03

3. Pyloric Stenosis in a Patient with CEDNIK Syndrome;Cureus;2024-05-01

4. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

5. CEDNIK Syndrome;Genetic Syndromes;2024