Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2022.03.004
Abstract: Genome-wide association studies (GWASs) of Huntington disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with… read more here.
Keywords: huntington disease; motor cognitive; disease; cognitive domains ... See more keywords
Genetic modifiers and non-Mendelian aspects of CMT
Sign Up to like & getrecommendations! Published in 2020 at "Brain Research"
DOI: 10.1016/j.brainres.2019.146459
Abstract: Charcot-Marie-Tooth (CMT) neuropathies are amongst the most common inherited diseases in neurology. While great strides have been made to identify the genesis of these diseases, a diagnostic gap of 30-60% remains. Classic models of genetic… read more here.
Keywords: modifiers non; methodology; aspects cmt; genetic modifiers ... See more keywords
A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals Intra-organelle Buffering
Sign Up to like & getrecommendations! Published in 2019 at "Cell"
DOI: 10.1016/j.cell.2019.10.032
Abstract: Mitochondrial dysfunction is associated with a spectrum of human conditions, ranging from rare, inborn errors of metabolism to the aging process. To identify pathways that modify mitochondrial dysfunction, we performed genome-wide CRISPR screens in the… read more here.
Keywords: organelle buffering; genetic modifiers; intra organelle; dysfunction ... See more keywords
Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-00169-x
Abstract: Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to… read more here.
Keywords: medicine; modifiers hemoglobinopathies; genetic modifiers; leading towards ... See more keywords
Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Sign Up to like & getrecommendations! Published in 2023 at "Hematology"
DOI: 10.1080/16078454.2023.2187155
Abstract: OBJECTIVES Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in… read more here.
Keywords: hemoglobin beta; thalassemia; genetic modifiers; beta thalassemia ... See more keywords
Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains
Sign Up to like & getrecommendations! Published in 2022 at "American journal of human genetics"
DOI: 10.1101/2022.01.03.22268687
Abstract: Genome-wide association studies (GWAS) of Huntington's disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with… read more here.
Keywords: motor cognitive; huntington disease; disease; cognitive domains ... See more keywords
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients.
Sign Up to like & getrecommendations! Published in 2023 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202209-1653oc
Abstract: RATIONALE Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR genetic influence. Identification of genetic modifiers has prognostic and therapeutic… read more here.
Keywords: lung; lung disease; genetic modifiers; disease severity ... See more keywords
Erratum: Methods for detecting host genetic modifiers of tumor vascular function using dynamic near-infrared fluorescence imaging: errata.
Sign Up to like & getrecommendations! Published in 2018 at "Biomedical optics express"
DOI: 10.1364/boe.9.002543
Abstract: [This corrects the article on p. 543 in vol. 9, PMID: 29552392.]. read more here.
Keywords: erratum methods; methods detecting; host genetic; genetic modifiers ... See more keywords
Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0274615
Abstract: Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disorder. Although most cases of ALS are sporadic, 5–10% of cases are familial, with mutations associated with over 40 genes. There is variation of… read more here.
Keywords: neuron disease; identification; genetic modifiers; motor ... See more keywords