Results 31 to 40 of about 199,308 (309)

Mosaicism in Vacuolating Cytotoxin Alleles of Helicobacter pylori

open access: yesJournal of Biological Chemistry, 1995
Approximately 50% of Helicobacter pylori strains produce a cytotoxin, encoded by vacA, that induces vacuolation of eukaryotic cells. Analysis of a clinically isolated tox strain (Tx30a) indicated secretion of a 93-kDa product from a 3933-base pair vacA ...
J. Atherton   +5 more
semanticscholar   +1 more source

Application of machine learning to predict aneuploidy and mosaicism in embryos from in vitro fertilization cyclesAJOG Global Reports at a Glance

open access: yesAJOG Global Reports, 2022
BACKGROUND: The factors associated with embryo aneuploidy have been extensively studied. Mostly maternal age and to a lesser extent male factor and ovarian stimulation have been related to the occurrence of chromosomal alterations in the embryo.
José A. Ortiz, PhD   +9 more
doaj   +1 more source

Age Mosaicism across Multiple Scales in Adult Tissues.

open access: yesCell Metabolism, 2019
Most neurons are not replaced during an animal's lifetime. This nondividing state is characterized by extreme longevity and age-dependent decline of key regulatory proteins.
Rafael Arrojo e Drigo   +10 more
semanticscholar   +1 more source

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

open access: yesFrontiers in Genetics, 2023
Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome.
Irina Ioana Iordanescu   +11 more
doaj   +1 more source

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

open access: yesFrontiers in Genetics, 2021
Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism.
Pengzhen Jin   +17 more
doaj   +1 more source

Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background The aim was to investigate if there were any differences in the degree of mosaicism between the left‐ and right‐hand sides of the buccal mucosa in women with Turner syndrome.
Sofia Thunström   +3 more
doaj   +1 more source

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

open access: yesNature Communications, 2019
Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically ...
C. Wright   +9 more
semanticscholar   +1 more source

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.
Chih-Ping Chen   +7 more
doaj   +1 more source

The lambda red proteins promote efficient recombination between diverged sequences: implications for bacteriophage genome mosaicism. [PDF]

open access: yesPLoS Genetics, 2008
Genome mosaicism in temperate bacterial viruses (bacteriophages) is so great that it obscures their phylogeny at the genome level. However, the precise molecular processes underlying this mosaicism are unknown.
Jann T Martinsohn   +2 more
doaj   +1 more source

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

open access: yesJournal of Allergy and Clinical Immunology, 2019
Background: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations.
A. Mensa‐Vilaró   +49 more
semanticscholar   +1 more source

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