Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders-Reference-Cited by-同舟云学术

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders

Published:2022-07 Issue:1 Volume:150 Page:223-228
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Coppola Simona,Insalaco Antonella,Zara Erika,Di Rocco Martina,Marafon Denise Pires,Spadaro Francesca,Pannone Luca,Farina Luciapia,Pasquini Luca,Martinelli Simone,De Benedetti Fabrizio,Tartaglia Marco^ORCID

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference17 articles.

1. Mammalian Rho GTPases: new insights into their functions from in vivo studies;Heasman;Nat Rev Mol Cell Biol,2008

2. Signaling role of Cdc42 in regulating mammalian physiology;Melendez;J Biol Chem,2011

3. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay;Takenouchi;Am J Med Genet A,2015

4. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia;Takenouchi;Am J Med Genet A,2016

5. Functional dysregulation of CDC42 causes diverse developmental phenotypes;Martinelli;Am J Hum Genet,2018

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1. Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene;Stem Cell Research;2024-10

2. Inflammatory gene regulation by Cdc42 in airway epithelial cells;Cellular Signalling;2024-10

3. Maladies auto-inflammatoires associées à l’IL-18;La Revue de Médecine Interne;2024-08

4. Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review;Genes;2024-07-24

5. C-terminal CDC42 variants in autoinflammatory patients specifically trigger actin defects and NF-κB hyperactivation;2024-06-30