Results 141 to 150 of about 218,218 (394)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Nuclear parcellation of pontine catecholaminergic and cholinergic neurons in gray parrots and pied crow brains

open access: yesThe Anatomical Record, EarlyView.
Immunohistochemical staining for tyrosine hydroxylase reveals the neurons forming the locus coeruleus complex in the pontine region of the brain of the Congo gray parrot. The appearance and parcellation of the locus coeruleus complex in birds shows many similarities, but also differences to that observed in mammals.
Pedzisai Mazengenya, Paul R. Manger
wiley   +1 more source

Exchange of associated factors directs a switch in HBO1 acetyltransferase histone tail specificity

open access: yesGenes & Development, 2013
Histone acetyltransferases (HATs) assemble into multisubunit complexes that target distinct lysine residues on nucleosomal histones. Here, Lalonde et al.
M. Lalonde   +13 more
semanticscholar   +1 more source

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

open access: yesThe Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna   +15 more
wiley   +1 more source

Liver Patt1 deficiency protects male mice from age-associated but not high-fat diet-induced hepatic steatosis

open access: yesJournal of Lipid Research, 2012
Patt1 is a newly identified protein acetyltransferase that is highly expressed in liver. However, the role of Patt1 in liver is still unclear. We generated Patt1 liver-specific knockout (LKO) mice and mainly measured the effect of hepatic Patt1 ...
Yang Liu   +11 more
doaj  

Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.

open access: yesPLoS ONE, 2011
Heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (N-acetyltransferase, EC 2.3.1.78) is an integral lysosomal membrane protein containing 11 transmembrane domains, encoded by the HGSNAT gene.
Xiaolian Fan   +4 more
doaj   +1 more source

Lysine Acetyltransferase GCN5 Potentiates the Growth of Non-small Cell Lung Cancer via Promotion of E2F1, Cyclin D1, and Cyclin E1 Expression*

open access: yesJournal of Biological Chemistry, 2013
Background: The role of the lysine acetyltransferase GCN5 in cancer development remains largely unknown. Results: GCN5 expression correlates with lung cancer tumor size, directly enhances the expression of E2F1, cyclin E1, and cyclin D1, and potentiates ...
Long Chen   +10 more
semanticscholar   +1 more source

Noncoding RNAs in Host–Microbiota Interaction

open access: yesAnimal Research and One Health, EarlyView.
The intricate interplay between gut microbiota and the host exerts a profound impact on host biological processes and disease development. This review highlights the pivotal role of noncoding RNAs (ncRNAs) in this interaction. Host ncRNAs regulate gene expression and microbiota composition, whereas microbial small RNAs (sRNAs) modulate host gene ...
Ziyi Zhao   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy