Results 11 to 20 of about 1,259,904 (287)

Pigs with an INS point mutation derived from zygotes electroporated with CRISPR/Cas9 and ssODN

open access: yesFrontiers in Cell and Developmental Biology, 2023
Just one amino acid at the carboxy-terminus of the B chain distinguishes human insulin from porcine insulin. By introducing a precise point mutation into the porcine insulin (INS) gene, we were able to generate genetically modified pigs that secreted ...
Fuminori Tanihara   +16 more
doaj   +1 more source

Surface charge changes in spike RBD mutations of SARS-CoV-2 and its variant strains alter the virus evasiveness via HSPGs: A review and mechanistic hypothesis

open access: yesFrontiers in Public Health, 2022
With the COVID-19 pandemic continuing, more contagious SARS-CoV-2 variants, including Omicron, have been emerging. The mutations, especially those that occurred on the spike (S) protein receptor-binding domain (RBD), are of significant concern due to ...
Zhongyun Zhang   +5 more
doaj   +1 more source

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe) [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2021
Purpose Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital hypoparathyroidism ...
Jung Eun Moon   +4 more
doaj   +1 more source

Effectiveness of 7-day triple therapy with half-dose clarithromycin for the eradication of Helicobacter pylori without the A2143G and A2142G point mutations of the 23S rRNA gene in a high clarithromycin resistance area

open access: yesFrontiers in Medicine, 2023
BackgroundTailored therapy has been widely used for patients with Helicobacter pylori (H. pylori) infection in South Korea. Herein, we evaluated the treatment outcomes of tailored clarithromycin-based triple therapy (TT) in patients infected with H ...
Seong Hyun Cho   +5 more
doaj   +1 more source

The F238L Point Mutation in the Cannabinoid Type 1 Receptor Enhances Basal Endocytosis via Lipid Rafts

open access: yesFrontiers 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
doaj   +1 more source

Point Mutation of Hoxd12 in Mice

open access: yesYonsei Medical Journal, 2008
Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with a chemical mutagen,
Cho, JW   +5 more
openaire   +4 more sources

Resistance risk and molecular mechanism associated with resistance to picoxystrobin in Colletotrichum truncatum and Colletotrichum gloeosporioides

open access: yesJournal of Integrative Agriculture, 2023
Anthracnose, caused by Colletotrichum truncatum and C. gloeosporioides, is amongst the most serious diseases of soybean in China. Picoxystrobin, a quinone outside inhibitor fungicide, is commonly used for the control of anthracnose.
Niu-niu SHI   +4 more
doaj   +1 more source

Variability of Iron Load in Patients of Sickle Cell Anaemia (HbSS): A study from Eastern India [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Introduction: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the b-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least ...
Pranati Mohanty   +2 more
doaj   +1 more source

Evolution of robustness in digital organisms [PDF]

open access: yes, 2004
We study the evolution of robustness in digital organisms adapting to a high mutation rate. As genomes adjust to the harsh mutational environment, the mean effect of single Imitations decreases, up until the point where a sizable fraction (up to 30% in ...
Adami, Christoph, Edlund, Jeffrey A.
core   +1 more source

A point mutation of integrin beta 1 subunit blocks binding of alpha 5 beta 1 to fibronectin and invasin but not recruitment to adhesion plaques. [PDF]

open access: yes, 1992
A point mutation in a highly conserved region of the beta 1 subunit, Asp130 to Ala (D130A) substitution, abrogates the Arg-Gly-Asp (RGD)-dependent binding of alpha 5 beta 1 to fibronectin (FN) without disrupting gross structure or heterodimer assembly ...
Ginsberg, MH   +4 more
core   +2 more sources

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