Results 251 to 260 of about 675,402 (336)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone   +11 more
wiley   +1 more source

Mitochondria‐Targeting Abasic Site‐Reactive Probe (mTAP) Enables the Manipulation of Mitochondrial DNA Levels

open access: yesAngewandte Chemie, EarlyView.
Mitochondria‐targeting water‐soluble probe mTAP exclusively reacts with mitochondrial abasic sites, enabling the manipulation of mitochondrial DNA levels under genotoxic stress. Abstract Mitochondrial DNA (mtDNA) encodes essential genes for mitochondrial and cellular functions and acts as a cell signaling molecule in innate immune and inflammatory ...
Anal Jana, Yu‐Hsuan Chen, Linlin Zhao
wiley   +2 more sources

A novel azithromycin resistance mutation in Mycoplasma genitalium induced in vitro. [PDF]

open access: yesJ Antimicrob Chemother
Chua TP   +7 more
europepmc   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori   +9 more
wiley   +1 more source

Seasonal Host Shifts for Legionella Within an Industrial Water-Cooling System. [PDF]

open access: yesEnviron Microbiol Rep
Crull S   +8 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy