Selected missense mutations impair frataxin processing in Friedreich ataxia
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DOI: 10.1002/acn3.490
Abstract: [This corrects the article DOI: 10.1002/acn3.433.]. read more here.
Keywords: selected missense; mutations impair; impair frataxin; missense mutations ... See more keywords
Orlistat response to missense mutations in lipoprotein lipase
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DOI: 10.1002/bab.1500
Abstract: The human lipoprotein lipase (LPL) is a therapeutic target for obesity, and inhibition of LPL with the approved small molecule agent orlistat has been widely used in clinic to treat obesity‐related health problems such as… read more here.
Keywords: lipoprotein lipase; missense mutations; orlistat response; response missense ... See more keywords
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders
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DOI: 10.1002/humu.23889
Abstract: ATP8A2 is a P4‐ATPase (adenosine triphosphate) that actively flips phosphatidylserine and phosphatidylethanolamine from the exoplasmic to the cytoplasmic leaflet of cell membranes to generate and maintain phospholipid asymmetry. Mutations in the ATP8A2 gene have been… read more here.
Keywords: expression functional; functional characterization; missense mutations; atpase activity ... See more keywords
Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer
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DOI: 10.1002/ijc.31259
Abstract: Several known breast cancer susceptibility genes with moderate‐to‐high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely… read more here.
Keywords: cancer; rare missense; missense mutations; breast cancer ... See more keywords
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
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DOI: 10.1016/j.ajhg.2017.12.001
Abstract: Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; mutations affecting ... See more keywords
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
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DOI: 10.1016/j.ajhg.2018.09.012
Abstract: PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a multiprotein complex which controls… read more here.
Keywords: pcgf2 cause; pcgf2; pro65 residue; residue pcgf2 ... See more keywords
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
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DOI: 10.1016/j.ajhg.2019.09.009
Abstract: NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins. Here, we report a disorder of transcriptional regulation due to missense… read more here.
Keywords: transcriptional regulation; disorder transcriptional; marfanoid habitus; terminal region ... See more keywords
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a−) phenotype
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DOI: 10.1016/j.bbrep.2019.100659
Abstract: Sda is a high-frequency carbohydrate histo-blood group antigen, GalNAcβ1-4(NeuAcα2-3)Galβ, implicated in pathogen invasion, cancer, xenotransplantation and transfusion medicine. Complete lack of this glycan epitope results in the Sd(a−) phenotype observed in 4% of individuals who… read more here.
Keywords: portion b4galnt2; b4galnt2; missense mutations; terminal portion ... See more keywords
Nanomechanical Phenotypes in Hypertrophic Cardiomyopathy caused by Missense Mutations in Cardiac Myosin-Binding Protein C
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DOI: 10.1016/j.bpj.2016.11.907
Abstract: We investigate the molecular mechanisms that induce hypertrophic cardiomyopathy (HCM) in the 10-20% of patients who carry missense mutations in MYBPC3, the gene coding for cardiac myosin-binding protein C (cMyBP-C). Our starting point is the… read more here.
Keywords: protein; myosin binding; hypertrophic cardiomyopathy; missense mutations ... See more keywords
Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis
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DOI: 10.1016/j.celrep.2018.07.094
Abstract: Summary Dysfunction of microglia, the brain’s immune cells, is linked to neurodegeneration. Homozygous missense mutations in TREM2 cause Nasu-Hakola disease (NHD), an early-onset dementia. To study the consequences of these TREM2 variants, we generated induced… read more here.
Keywords: trem2 missense; missense mutations; pluripotent stem; induced pluripotent ... See more keywords
CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers.
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DOI: 10.1016/j.cels.2019.05.005
Abstract: Large-scale cancer sequencing studies of patient cohorts have statistically implicated many genes driving cancer growth and progression, and their identification has yielded substantial translational impact. However, a remaining challenge is to increase the resolution of… read more here.
Keywords: cancer; chasmplus reveals; missense mutations; driver missense ... See more keywords