Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1 ‐related disease-Reference-Cited by-同舟云学术

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Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1 ‐related disease

Published:2021-09-24 Issue:1 Volume:188 Page:332-335
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Moller‐Hansen Ashley¹,Huynh Stephanie¹,Boerkoel Cornelius F.¹^ORCID,Chin Hui‐Lin¹²^ORCID

Affiliation:

1. Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia Vancouver British Columbia Canada

2. Khoo Teck Puat‐National University Children's Medical Institute, National University Hospital Singapore

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62510

Reference23 articles.

1. Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1

2. KRIT1 Loss-Of-Function Associated with Cerebral Cavernous Malformation Disease Leads to Enhanced S-Glutathionylation of Distinct Structural and Regulatory Proteins

3. Imaging of the pediatric peritoneum, mesentery and omentum

4. JAK2V617F-positive endothelial cells contribute to clotting abnormalities in myeloproliferative neoplasms

5. KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions

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