Results 81 to 90 of about 2,273 (178)
Frontiers in Genetics, 2021 PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland ...
Huishu E. +8 more
doaj +1 more source
Exploring and Validating the Molecular Mechanisms Linking Fatty Acid Metabolism and Sarcopenia
IET Systems Biology, Volume 20, Issue 1, January/December 2026.This study provides reference for fatty acid metabolism related potential candidate genes for sarcopenia and initially creates an effective machine learning models for further investigating the direction of the mechanism level. ABSTRACT Sarcopenia is an ageing‐related disease characterised primarily by skeletal muscle functional decline.
Ruopeng Yang, Shan Gu, Yang Li, Ping Xia
wiley +1 more source
Brane f(R) gravity cosmologies
, 2010 By the application of the generalized Israel junction conditions we derive cosmological equations for the fourth-order $f(R)$ brane gravity and study their cosmological solutions.
Balcerzak, Adam, Dabrowski, Mariusz P.
core +1 more source
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients [PDF]
, 2014 Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Neerja, Gupta +13 more
openaire +2 more sources
Canadian Respiratory Journal, Volume 2026, Issue 1, 2026.Background The COVID‐19 pandemic has led to a variety of long‐term complications, with COVID‐19‐induced idiopathic pulmonary fibrosis (IPF) becoming a major concern. However, the underlying mechanisms, effective therapeutic strategies, and long‐term prognosis of COVID‐19‐related pulmonary fibrosis remain unclear.
Xin Zhang +8 more
wiley +1 more source
Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Journal of Biochemical and Clinical Genetics, 2019 Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity ...
Ali M AlAsmari +2 more
doaj +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
A single transcription factor is sufficient to induce and maintain secretory cell architecture [PDF]
, 2017 We hypothesized that basic helix–loop–helix (bHLH) MIST1 (BHLHA15) is a “scaling factor” that universally establishes secretory morphology in cells that perform regulated secretion.
Blanc, Valerie +12 more
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Genome-wide transcriptomics of aging in the rotifer Brachionus manjavacas, an emerging model system [PDF]
, 2017 © The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in BMC Genomics 18 (2017): 217, doi:10.1186/s12864-017-3540-x.Understanding gene expression changes over ...
Gribble, Kristin E. +1 more
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Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
doaj +1 more source