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]
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
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
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
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
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
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]
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]
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
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
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

