Results 281 to 290 of about 380,814 (333)

Optimized conditions for GTP loading of Ras. [PDF]

open access: yesJ Biol Chem
Vish KJ, Paul ME, Rollins AP, Boggon TJ.
europepmc   +1 more source

Acute Exercise Challenge and Airway Dynamics in Youth With Sickle Cell Anemia: A Multicenter Study

open access: yesAmerican Journal of Hematology, EarlyView.
Changes in airway dynamics in children with sickle cell anemia after maximal cardiopulmonary exercise testing and a controlled intensity interval excercise challenge. ABSTRACT Sickle cell anemia (SCA) leads to reduced physical functioning and cardiopulmonary fitness. Prior studies suggest that airway hyperresponsiveness to bronchoprovocation testing is
Robyn T. Cohen   +9 more
wiley   +1 more source

Proteomics- and BRET- screens identify SPRY2 as a Ras effector that impacts its membrane organization. [PDF]

open access: yesiScience
Pavic K   +8 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

M-Ras distinct activation scenarios: A mechanistic outlook and targeting. [PDF]

open access: yesComput Struct Biotechnol J
Xu L, Liu Y, Jang H, Nussinov R.
europepmc   +1 more source

The impact of RAS on cell differentiation in health and disease. [PDF]

open access: yesBiochem J
Duval CJ   +3 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

Understanding Aerosol-Mediated Disease Transmission. [PDF]

open access: yesACS Cent Sci
Dommer AC, Amaro RE, Prather KA.
europepmc   +1 more source

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