Results 21 to 30 of about 6,585,062 (339)
SHOX point mutations in dyschondrosteosis [PDF]
Journal of Medical Genetics, 2001 Dyschondrosteosis (DCS) has been recently ascribed to mutations of the SHOX gene on the pseudoautosomal region of the X and Y chromosomes.1 2 Most cases are accounted for by large scale deletions3-7 and only two point mutations have been hitherto identified in exon 4 (R195 X and Y199X1 2).
Michèle Mathieu +7 more
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Nihon rinsho. Japanese journal of clinical medicine, 2019 A point mutation is when a single base pair is altered. Point mutations can have one of three effects. First, the base substitution can be a silent mutation where the altered codon corresponds to the same amino acid.
Y. Yuasa
semanticscholar +1 more source
Point mutations in the dystrophin gene. [PDF]
Proceedings of the National Academy of Sciences, 1992 Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements of the ...
David R. Bentley +2 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
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance Crops genetically engineered to produce insecticidal proteins from the bacterium Bacillus thuringiensis (Bt) kill some major pests and reduce use of insecticide sprays.
Lin Jin +14 more
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OsCIPK7 point-mutation leads to conformation and kinase-activity change for sensing cold response.
Journal of Integrative Plant Biology, 2019 Calcineurin B-like interacting protein kinases (CIPKs) play important roles via environmental stress. However, less is known how to sense the stress in molecular structure conformation level.
Dajian Zhang +9 more
semanticscholar +1 more source
PICMI: mapping point mutations on genomes [PDF]
Bioinformatics, 2010 Abstract Motivation: Several international collaborations and local projects are producing extensive catalogues of genomic variations that are supplementing existing collections such as the OMIM catalogue. The flood of this type of data will keep increasing and, especially, it will be relevant to a wider user base, including not only ...
LE PERA, LOREDANA +2 more
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A histone point mutation that switches on autophagy [PDF]
Autophagy, 2014 The multifaceted process of aging inevitably leads to disturbances in cellular metabolism and protein homeostasis. To meet this challenge, cells make use of autophagy, which is probably one of the most important pathways preserving cellular protection under stressful conditions.
Eisenberg, Tobias +17 more
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A SIMPLE pipeline for mapping point mutations [PDF]
Plant Physiology, 2016 AbstractA forward genetic screen is one of the best methods for revealing the regulatory functions of genes. In plants, this technique is highly efficient since it is relatively easy to grow and screen the phenotypes of hundreds or thousands of individuals.
Jennifer L. Modliszewski +4 more
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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