Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family
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DOI: 10.1002/mgg3.1878
Abstract: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss‐of‐function mutations in… read more here.
Keywords: exostosis hme; hereditary multiple; functional analyses; multiple exostosis ... See more keywords
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Anesthesia"
DOI: 10.1007/s00540-018-2451-6
Abstract: PurposeThe aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility.MethodsDNA testing of family members… read more here.
Keywords: susceptibility; 293 cells; genetic functional; ryr1 ... See more keywords
Genetic and Functional Dissection of the Role of Individual 5-HT2 Receptors as Entry Receptors for JC Polyomavirus
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DOI: 10.1016/j.celrep.2019.04.067
Abstract: SUMMARY JC polyomavirus (JCPyV) is a ubiquitous human pathogen that causes progressive multifocal leukoencephalopathy (PML). The entry receptors for JCPyV belong to the 5-hydroxytryptamine 2 receptor (5-HT2R) family, but how individual members of the family… read more here.
Keywords: functional dissection; entry receptors; dissection role; ht2 receptors ... See more keywords
Genetic and functional analysis reveals TENM4 contributes to schizophrenia
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DOI: 10.1016/j.isci.2021.103063
Abstract: Summary TENM4, encoding a member of the teneurin protein family, is a risk gene shared by many types of mental diseases and is implicated in neuronal plasticity and signaling. However, the role and the mechanisms… read more here.
Keywords: analysis reveals; tenm4 contributes; genetic functional; contributes schizophrenia ... See more keywords
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia
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DOI: 10.1016/j.ymgmr.2020.100576
Abstract: Severe hypertriglyceridemia (HTG) due to chylomicronemia is associated with acute pancreatitis and is related to genetic disturbances in several proteins involved in triglyceride (TG) metabolism. Lipase maturation factor 1 (LMF1) is a protein essential for… read more here.
Keywords: severe hypertriglyceridemia; genetic functional; lmf1 gene; severe htg ... See more keywords
The Growing Genetic and Functional Diversity of Extended Spectrum Beta-Lactamases
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DOI: 10.1155/2018/9519718
Abstract: The β-lactams—a large class of diverse compounds—due to their excellent safety profile and broad antimicrobial spectrum are considered to be the most widely used therapeutic class of antibacterials prescribed in human and veterinary clinical practices.… read more here.
Keywords: growing genetic; diversity; genetic functional; spectrum ... See more keywords
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
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DOI: 10.1212/wnl.0000000000200660
Abstract: Background and Objectives KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potassium channel subfamily, which is important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. The objective… read more here.
Keywords: functional characteristics; spectrum phenotypic; genetic functional; phenotypic genetic ... See more keywords
Genetic and Functional Diversity of Nitrilases in Agaricomycotina
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DOI: 10.3390/ijms20235990
Abstract: Nitrilases participate in the nitrile metabolism in microbes and plants. They are widely used to produce carboxylic acids from nitriles. Nitrilases were described in bacteria, Ascomycota and plants. However, they remain unexplored in Basidiomycota. Yet… read more here.
Keywords: diversity nitrilases; genetic functional; nitrilases agaricomycotina; functional diversity ... See more keywords
Genetic and Functional Effects of Adiponectin in Type 2 Diabetes Mellitus Development
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DOI: 10.3390/ijms232113544
Abstract: Diabetes mellitus (DM) is a common chronic metabolic disease, and the C57BLKsJ-db/db mice are good animal models for type 2 diabetes mellitus (T2DM). In this study, Western blotting and immunohistochemistry (IHC) were employed to examine… read more here.
Keywords: functional effects; effects adiponectin; adiponectin type; type diabetes ... See more keywords