C‐Terminal, but Not Intact, FGF23 and EPO Are Strongly Correlatively Elevated in Patients With Gain‐of‐Function Mutations in HIF2A: Clinical Evidence for EPO Regulating FGF23
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4195
Abstract: Fibroblast growth factor 23 (FGF23) is a key phosphate‐ and vitamin D‐regulating hormone. FGF23 circulates as an intact 251 amino acid protein or N‐ and C‐terminal degradation products. Hormone activity resides in the intact molecule,… read more here.
Keywords: fgf23; function mutations; intact fgf23; physiology ... See more keywords
Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.27982
Abstract: The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. read more here.
Keywords: loss function; cause; function mutations; dystonia parkinsonism ... See more keywords
Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
Sign Up to like & getrecommendations! Published in 2019 at "Cell reports"
DOI: 10.1016/j.celrep.2018.12.100
Abstract: DNA variants in the SLC16A11 coding region were identified to be strongly associated with type 2 diabetes (T2DM) in a Mexican population. Previous studies suggested that these variants disrupt SLC16A11 function and therefore proposed to… read more here.
Keywords: function mutations; mutations slc16a11; type diabetes; type ... See more keywords
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2016.11.008
Abstract: Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio… read more here.
Keywords: loss function; novo loss; function mutations; clinical features ... See more keywords
Reply: Loss-of-Function Mutations to Estimate Pharmacological ANGPTL3 Inhibition.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2017.07.794
Abstract: In their response to our recent paper in the Journal [(1)][1], Dr. Luo and colleagues comment that circulating ANGPTL3 concentrations may be affected by an acute myocardial infarction. They also raise the possible role of… read more here.
Keywords: mutations estimate; function mutations; reply loss; estimate pharmacological ... See more keywords
Biomedicine: Human genes lost and their functions found
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/544171a
Abstract: Individuals who lack a functional copy of a gene — gene knockouts — can reveal the gene's role. Most knockout research has used model organisms, but now a comprehensive catalogue of human knockouts is in… read more here.
Keywords: function mutations; loss function; biomedicine human; human genes ... See more keywords
Pharmacologically reversible, loss of function mutations in the TM2 and TM4 inner pore helices of TREK-1 K2P channels
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-48855-1
Abstract: A better understanding of the gating of TREK two pore domain potassium (K2P) channels and their activation by compounds such as the negatively charged activator, flufenamic acid (FFA) is critical in the search for more… read more here.
Keywords: function mutations; reversible loss; k2p channels; pharmacologically reversible ... See more keywords
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa073
Abstract: Despite the wide use of genomics to investigate the molecular basis of rare congenital malformations, a significant fraction of patients remains bereft of diagnosis. As part of our continuous effort to recruit and perform genomic… read more here.
Keywords: function mutations; cause; neurodevelopmental anomalies; loss function ... See more keywords
Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia
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DOI: 10.1111/cge.14233
Abstract: SGCE myoclonus‐dystonia is a monogenic form of dystonia with an autosomal dominant mode of inheritance that co‐occurs with a myoclonic jerk. In this study, we present 12 Japanese patients from nine families with this disease.… read more here.
Keywords: mutations sgce; function mutations; loss function; japanese patients ... See more keywords
Loss‐of‐function mutations in filaggrin gene and malignant melanoma: a case–control study
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14532
Abstract: Loss‐of‐function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of epidermal filaggrin and its degradation products, urocanic acid, which may be protective against ultraviolet… read more here.
Keywords: loss function; mutations filaggrin; function mutations; filaggrin gene ... See more keywords
Loss-of-function mutations in CEP78 cause male infertility in humans and mice
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abn0968
Abstract: Centrosomal protein dysfunction might cause ciliopathies. However, the role of centrosomal proteins in male infertility remains poorly defined. Here, we identified a pathogenic splicing mutation in CEP78 in male infertile patients with severely reduced sperm… read more here.
Keywords: function mutations; loss function; knockout mice; infertility ... See more keywords