ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy
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DOI: 10.1007/s00380-017-1110-4
Abstract: Dilated cardiomyopathy (DCM) is a common primary myocardial disease leading to congestive heart failure, arrhythmia and sudden cardiac death. Increasing studies demonstrate substantial genetic determinants for DCM. Nevertheless, DCM is of substantial genetic heterogeneity, and… read more here.
Keywords: loss function; function mutation; dilated cardiomyopathy; zbtb17 ... See more keywords
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical immunology"
DOI: 10.1007/s10875-022-01243-3
Abstract: Monogenic autoinflammatory diseases (mAIDs) are a heterogeneous group of diseases affecting primarily innate immunity, with various genetic causes. Genetic diagnosis of mAIDs can assist in the patient's management and therapy. However, a large number of… read more here.
Keywords: loss function; elf4 causes; elf4; mutation ... See more keywords
Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Endocrine Disorders"
DOI: 10.1186/s12902-020-0513-x
Abstract: The voltage-gated potassium channel Kv7.1 encoded by KCNQ1 is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in KCNQ1 causes long QT syndrome along with glucose-stimulated hyperinsulinemia, increased C-peptide and postprandial… read more here.
Keywords: function; gain function; function mutation; glucose stimulated ... See more keywords
Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.660953
Abstract: The IFIH1 gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional change in a single… read more here.
Keywords: gain function; mutation ifih1; function mutation; gene ... See more keywords
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2020.00967
Abstract: Chronic mucocutaneous candidiasis (CMC) characterized by persistent and recurrent Candida infection of the skin, nails, and the mucosa membranes has been proposed as the major infectious phenotype in patients with gain-of-function mutation of signal transducer… read more here.
Keywords: aphthous stomatitis; severe aphthous; function mutation; gain function ... See more keywords
Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.919199
Abstract: Spinocerebellar ataxia 19/22 (SCA19/22) is a rare neurodegenerative disorder caused by mutations of the KCND3 gene, which encodes the Kv4. 3 protein. Currently, only 22 KCND3 single-nucleotide mutation sites of SCA19/22 have been reported worldwide,… read more here.
Keywords: sca19 rare; loss function; rare kcnd3; kcnd3 loss ... See more keywords
A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23126522
Abstract: Non-obstructive azoospermia (NOA), characterized by spermatogenesis failure and the absence of sperm in ejaculation, is the most severe form of male infertility. However, the etiology and pathology between meiosis-associated monogenic alterations and human NOA remain… read more here.
Keywords: loss function; noa; function mutation; msh5 ... See more keywords
MEF2C loss-of-function mutation contributes to congenital heart defects
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DOI: 10.7150/ijms.21353
Abstract: Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of… read more here.
Keywords: mef2c loss; loss function; chd; function mutation ... See more keywords