New insights into KATP channel gene mutations and neonatal diabetes mellitus
Sign Up to like & getrecommendations! Published in 2020 at "Nature Reviews Endocrinology"
DOI: 10.1038/s41574-020-0351-y
Abstract: The ATP-sensitive potassium channel (KATP channel) couples blood levels of glucose to insulin secretion from pancreatic β-cells. KATP channel closure triggers a cascade of events that results in insulin release. Metabolically generated changes in the… read more here.
Keywords: katp channel; genes encoding; diabetes mellitus; mutations genes ... See more keywords
Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.1111/gbb.12723
Abstract: The postsynaptic terminal of vertebrate excitatory synapses contains a highly conserved multiprotein complex that comprises neurotransmitter receptors, cell‐adhesion molecules, scaffold proteins and enzymes, which are essential for brain signalling and plasticity underlying behaviour. Increasingly, mutations… read more here.
Keywords: syngap1 nlgn3; reaction times; genes encoding; nlgn3 dlgap1 ... See more keywords
Mutations in Genes Associated with Familial Predisposition to Myeloid Neoplasms: Their Frequency and Associations with Pretreatment Characteristics in Adult Patients (Pts) with Presumably Sporadic De Novo Acute Myeloid Leukemia (AML)
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-120085
Abstract: The effects of germline variants in the development of myeloid neoplasms, including AML, were largely neglected for decades. However, several myeloid neoplasms with germline predisposition have been recently recognized as separate entities in the 2016… read more here.
Keywords: myeloid neoplasms; srp72; frequency; myeloid ... See more keywords
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy
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DOI: 10.3390/genes13040713
Abstract: Background: This study aimed to report the frequency of KIF11-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of KIF11-associated retinopathy and compare KIF11-associated retinopathy to FEVR with mutations in other… read more here.
Keywords: associated retinopathy; mutations genes; kif11 associated; kif11 mutations ... See more keywords