Results 121 to 130 of about 6,918,895 (258)
Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1
Frontiers in ImmunologyChildren with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease ...
Sagar Bhattad +6 more
doaj +1 more source
Medical genetics in clinical practice.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974 Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med.
Beighton, P.H., Nelson, Matilda M.
openaire +3 more sources
Structural and biochemical analysis of a B12 superbinder
FEBS Letters, EarlyView.BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices +3 more
wiley +1 more source
Germline BRCA testing in routine clinical practice: a single-center experience
Pathology and Oncology ResearchThe identification of gBRCA1/2 mutations in breast cancer patients is crucial. Successful identification of the mutations has the potential to alter disease treatment and healthcare management of patients whose relatives harbor pathogenic/likely ...
Aliz Nikolényi +15 more
doaj +1 more source
The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation
FEBS Letters, EarlyView.Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge +6 more
wiley +1 more source
FEBS Letters, EarlyView.Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise +5 more
wiley +1 more source
Microdeletions and molecular genetics
, 2004 Educational Items on Microdeletions and molecular ...
Fryns, JP, A Vogels, JP Fryns, Vogels, A
core +1 more source
Recent Advances in Medical Genetics [PDF]
, 1946 Author Institution: Professor of Medical Genetics, Department of Medicine, and Chairman of the Department of Zoology and Entomology, The Ohio State ...
Snyder, Laurence H.
core +1 more source
Кубанский научный медицинский вестникBackground. Over the last few decades, genetic advancements have yielded new medical technologies aimed at improving human health. Implementing genomic medicine in healthcare settings provides the foundation for personalized medicine, which has already ...
S. A. Korkhmazova
doaj +1 more source