Results 131 to 140 of about 631,764 (332)
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source
EPIDEMIOLOGY, PATHOPHYSIOLOGY, AND HINDRANCE OF UREA CYCLE ERROR OF METABOLISM [PDF]
, 2021 Inborn errors of metabolism (IEMs) are a class of genetic disorders that are rare individually, but collectively they occur in common terms exhibiting an average prevalence of 1 in 1000 individuals.
KAVITAPU, VENKATA VASAVI +2 more
core +1 more source
Exploring the genetic patterns of complex diseases via the integrative genome-wide approach [PDF]
arXiv, 2015 Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However, most of the variants that have been identified contribute relatively small increments of risk and only explain a ...
arxiv
Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies
Advanced Science, EarlyView.This review article delves into the cutting‐edge advancements in gene editing technology, with a particular focus on prime editor proteins and their engineered variants. The authors provide a thorough examination of recent developments that have addressed key challenges in the field, including improved precision, enhanced editing efficiency, and ...
Abhijith Koodamvetty +1 more
wiley +1 more source
Griscelli syndrome type 2: Rare 3 cases from Iraq
Iraqi Journal of HematologyGriscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
doaj +1 more source
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela +13 more
doaj +1 more source
An International Classification of Inherited Metabolic Disorders (ICIMD) [PDF]
, 2021 Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others on clinical manifestations, while yet another attempted a simplified approach of a ...
Ferreira, CR +4 more
core
Genome-wide Causation Studies of Complex Diseases [PDF]
arXiv, 2019 Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so that a large fraction of disease causing genetic variants is still hidden. Association is used to measure dependence
arxiv
Mapping the Genetic-Imaging-Clinical Pathway with Applications to Alzheimer's Disease [PDF]
arXiv, 2020 Alzheimer's disease is a progressive form of dementia that results in problems with memory, thinking, and behavior. It often starts with abnormal aggregation and deposition of beta amyloid and tau, followed by neuronal damage such as atrophy of the hippocampi, leading to Alzheimer's Disease (AD).
arxiv