Results 21 to 30 of about 6,527,208 (145)
Biotechnology & Biotechnological Equipment, 2019 The binding activity to heparan sulphate is crucial for the mitogenic activity of fibroblast growth factor 4 (FGF4) in developing mammalian embryos. There are two conserved cysteine residues in FGF family proteins, Cys-84 and Cys-151 in mouse FGF4, and ...
Yuki Kumagai +7 more
doaj +1 more source
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2
Brain : a journal of neurology, 2017 Studies of monogenic heritable pain disorders provide valuable insights into human pain mechanisms. Habib et al. show that a point mutation in the gene ZFHX2 causes an autosomal dominant form of pain insensitivity.
A. Habib +32 more
semanticscholar +1 more source
Czech Journal of Animal Science, 2007 The present study addresses the characteristics of the frequency and segregation of alleles determining the SNP 775C>T polymorphism within the bovine ITGB2 gene in the Black-and-White cattle population as well as in two endemic breeds of Polish Red ...
U. Czarnik +3 more
doaj +1 more source
Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors
Frontiers in Molecular Biosciences, 2023 Among its many molecular targets, the ubiquitous calcium sensor protein calmodulin (CaM) recognizes and regulates the activity of ryanodine receptors type 1 (RyR1) and 2 (RyR2), mainly expressed in skeletal and cardiac muscle, respectively.
Giuditta Dal Cortivo +3 more
doaj +1 more source
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).
Nucleic Acids Research, 1989 We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction ...
C. Newton +7 more
semanticscholar +1 more source
Frontiers in Molecular Neuroscience, 2018 Defining functional domains and amino acid residues in G protein coupled receptors (GPCRs) represent an important way to improve rational drug design for this major class of drug targets.
Melanie Wickert +11 more
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A Spontaneous H2-Aa Point Mutation Impairs MHC II Synthesis and CD4+ T-Cell Development in Mice
Frontiers in Immunology, 2022 Major histocompatibility complex class II (MHC II) is an essential immune regulatory molecule that plays an important role in antigen presentation and T-cell development.
Yun Zhao +17 more
doaj +1 more source
Nivolumab in previously untreated melanoma without BRAF mutation.
New England Journal of Medicine, 2015 BACKGROUND Nivolumab was associated with higher rates of objective response than chemotherapy in a phase 3 study involving patients with ipilimumab-refractory metastatic melanoma.
C. Robert +27 more
semanticscholar +1 more source
Mutation status of p53 gene in oral squamous cell carcinoma [PDF]
Stomatološki glasnik Srbije, 2009 Introduction. p53 gene is the most common tumor suppressor gene involved in pathogenesis oral squamous cell carcinoma (OSCC). Protein product of p53 gene contributes to cell cycle control and apoptosis.
Popović Branka +3 more
doaj +1 more source
Biosensors, 2023 Point mutations are common in the human DNA genome and are closely related to higher susceptibility to cancer diseases. Therefore, suitable methods for their sensing are of general interest.
Sabrine Baachaoui +4 more
doaj +1 more source