Results 121 to 130 of about 241,061 (333)
GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]
, 2017 OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C +20 more
core +3 more sources
Clinical Characteristics of Subjects with a Missense Mutation in Glucokinase
Diabetic Medicine, 1995 The clinical characteristics of subjects with a missense glucokinase mutation, gly299→arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were measured with Homeostasis Model Assessment (HOMA) and with a ...
Page, R +9 more
openaire +3 more sources
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways
Advanced Science, EarlyView.EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen +12 more
wiley +1 more source
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.Quantitative phase maps of single cells recorded in flow cytometry modality feed a hierarchical architecture of machine learning models for the label‐free identification of subtypes of ovarian cancer. The employment of a priori clinical information improves the classification performance, thus emulating the clinical application of liquid biopsy during ...
Daniele Pirone +11 more
wiley +1 more source
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
A missense mutation makes a mess of Ca2+ sensing [PDF]
Journal of General Physiology, 2017 A new JGP study shows how a disease-causing mutation in RyR2 dramatically alters channel behavior.
openaire +2 more sources
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley +1 more source
Shanghai Jiaotong Daxue xuebao. Yixue banObjective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong +6 more
doaj +1 more source
α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies
Brazilian Journal of Cardiovascular Surgery, 2015 α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse
Shi-Min Yuan
doaj +1 more source
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore +11 more
wiley +1 more source