Results 81 to 90 of about 3,646,381 (383)
Brazilian Journal of Medical and Biological Research, 2013 Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF.
C. Kosan, A. Cayir, M.I. Turan
doaj +1 more source
Frontiers in Plant Science, 2022 During natural evolution and artificial selection, the fruit color of many species has been repeatedly gained or lost and is generally associated with mutations in genes encoding R2R3-MYB transcription factors, especially MYB10.
Huazhao Yuan +5 more
doaj +1 more source
Presence of the ABCB1 (MDR1) deletion mutation causing ivermectin hypersensitivity in certain dog breeds in Belgium [PDF]
, 2009 Hypersensitivity to ivermectin and certain other drugs in Collies and related breeds is caused by a 4-base pair deletion mutation in the ABCB1 gene, better known as the MDR1 gene, encoding P-glycoprotein.
Daminet, Sylvie +9 more
core +2 more sources
Nature Communications, 2015 Genetic disorders resulting from defects in the adult globin genes are among the most common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is silenced.
B. Wienert +10 more
semanticscholar +1 more source
Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases
FEBS Letters, EarlyView.The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher +6 more
wiley +1 more source
Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals
Arquivos de Neuro-PsiquiatriaObjective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12
Roberta Arb Saba +5 more
doaj +1 more source
Insertion of the FeB cofactor in cNORs lacking metal inserting chaperones
FEBS Letters, EarlyView.Nitric oxide reductase is an enzyme found in the bacterial denitrification pathway. The NOR active site contains a non‐heme iron, often, but not always inserted with the assistance of chaperones. Here, we study the insertion of FeB in the subfamily of cNORs lacking chaperones and found a putative channel, conserved in the family, perhaps enabling the ...
Sofia Appelgren, Pia Ädelroth
wiley +1 more source
A common phytoene synthase mutation underlies white petal varieties of the California poppy. [PDF]
, 2019 The California poppy (Eschscholzia californica) is renowned for its brilliant golden-orange flowers, though white petal variants have been described.
Gong, Xue +2 more
core +1 more source
Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans
Journal of Clinical Endocrinology and Metabolism, 2018 Context Somatic mutations have been identified in more than half of aldosterone-producing adenomas (APAs) through mutation hotspot sequencing. The underlying pathogenesis of inappropriate aldosterone synthesis in the remaining population is still unknown.
K. Nanba +9 more
semanticscholar +1 more source
MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]
Nature Communications, 2018 AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
Gudmundur L. Norddhal +33 more
openaire +4 more sources