Results 11 to 20 of about 1,268,660 (340)

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

Pyruvic Acid Production from Sucrose by Escherichia coli Pyruvate Dehydrogenase Variants

open access: yesFermentation, 2023
Sucrose is an abundant, cheap, and renewable carbohydrate which makes it an attractive feedstock for the biotechnological production of chemicals. Escherichia coli W, one of the few safe E.
W. Chris Moxley, Mark A. Eiteman
doaj   +1 more source

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

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

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

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

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

Study of SNP 775C>T polymorphism within the bovine ITGB2 gene in Polish Black-and-White cattle and in local breeds of cattle

open access: yesCzech 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

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