Gain-of-function variant in GLUD2 glutamate dehy- drogenase modifies Parkinson's disease onset. Eur J Hum Genet 18:336-341.Plaitakis A, Latsoudis H, Kanavouras K, Ritz B, Bronstein JM, Skoula I, Mastoro- demos V, Papapetropoulos S, Borompokas N, Zaganas I, et al. (2010) ...
The T1492G variant created a restriction site for the enzyme AciI (New England Biolabs, Inc, Beverly, MA, USA), and the resulting 204 and 323 bp subfragments were visualized on a 3% agarose gel. Putative carriers of the T1492G variant were sequenced to confirm their genotype. All ...
Gain-of-function variant of the human epithelial sodium channel Epithelial Na~+ channel (ENaC) mutations are associated with several human disorders, underscoring the importance of these channels in human health. Recent human genome sequencing projects have revealed a large number of ENaC gene variat...
Protein Kinase Cα (PKCα) Gain‐of‐Function Variant in Alzheimer's Disease Displays Enhanced Catalysis by a Mechanism that Evades Down‐Regulation 2018. Protein kinase Ca (PKCa) gain-of-function variant in Alzheimer's disease displays enhanced catalysis by mech- anism that evades down-...
A common gain-of-function LPL variant, LPLS447X, has favorable clinical features and involves a C → G base change at nucleotide 1595 of the LPL cDNA, along with a haplotype, which includes other non-coding SNPs. The mechanism for the LPL gain-in-function is not clear. LPL translation ...
However, data on the impact of a gain-of-function variant CYP2C19*17 on the response to that drug seem to be less consistent. Objectives: To systematically summarize all available clinical data assessing the role of the CYP2C19*17 variant in patients taking clopidogrel. Methods: A literature ...
A common gain-of-function LPL variant, LPLS447X, has favorable clinical features and involves a C→G base change at nucleotide 1595 of the LPL cDNA, along with a haplotype, which includes other non-coding SNPs. The mechanism for the LPL gain-in-function is not clear. LPL translation is...
1.2.1.4Gain of function variant in CFB Gain-of-function mutations inCFBare present in aHUS, but are extremely rare[8,34–36]. A fewCFBmutations can super-activate complement, all located within the C3b binding site[45]. Eight newly characterized CFB variants identified in aHUS patients are ...
A myoferlin gain‐of‐function variant associates with a new type of hereditary angioedemaangioedemabasic mechanismsgenetics2Allergy and Immune Disorders, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Vic., Australia 3Department of Pediatrics, University of Melbourne, ...
Point mutations, which make up the majority of all mutations, give rise to a great variety of changes. A modification of one gene usually causes changes in several phenotypic characteristics. Point mutations can be dominant, semidominant, or recessive. Mutation of a gene can produce a variant,...