Review of familial cerebral cavernous malformations and report of seven additional families-Reference-Cited by-同舟云学术

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Review of familial cerebral cavernous malformations and report of seven additional families

Published:2016-10-28 Issue:2 Volume:173 Page:338-351
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

de Vos Ivo J. H. M.¹²³,Vreeburg Maaike¹²,Koek Ger H.⁴,van Steensel Maurice A. M.³⁵

Affiliation:

1. Department of Clinical Genetics; Maastricht University Medical Center+; Maastricht The Netherlands

2. School for Oncology and Developmental Biology (GROW); Maastricht University Medical Center+; Maastricht The Netherlands

3. Institute of Medical Biology, Agency for Science; Technology and Research (A*STAR); Singapore Singapore

4. Department of Internal Medicine; Division of Gastroenterology and Hepatology; Maastricht University Medical Center+; Maastricht The Netherlands

5. School of Medicine and School of Life Sciences; University of Dundee; Dundee United Kingdom

Funder

A*STAR Research Attachment Programme

Skin Research Institute of Singapore

Wellcome Trust

Dystrophic Epidermolysis Bullosa Research Association

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38028/fullpdf

Reference95 articles.

1. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): Evidence for a two-hit mechanism of CCM pathogenesis;Akers;Hum Mol Genet,2009

2. Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1;Beraud-Dufour;FEBS J,2007

3. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations;Bergametti;Am J Hum Genet,2005

4. Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype;Borikova;J Biol Chem,2010

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1. Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing;Computational and Structural Biotechnology Journal;2024-12

2. Cerebral cavernous malformations – An overview on genetics, clinical aspects and therapeutic strategies;Journal of the Neurological Sciences;2024-06

3. Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China;Stroke and Vascular Neurology;2024-05-15

4. Towards a neurocognitive profile in familial cerebral cavernous malformations;Acta Neurologica Belgica;2023-07-01

5. Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden;Annals of Clinical and Translational Neurology;2023-01-11

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