Results 271 to 280 of about 322,041 (407)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Rho Family GTPases Bind to Phosphoinositide Kinases [PDF]

open access: hybrid, 1995
Kimberley F. Tolias   +2 more
openalex   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai   +8 more
wiley   +1 more source

Guanine Nucleotide Exchange Factors and Small GTPases: Their Regulation and Functions, Diseases, and Therapeutic Targets. [PDF]

open access: yesMedComm (2020)
Lin Z   +15 more
europepmc   +1 more source

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