Genomic technologies and the diagnosis of 46, XY differences of sex development
Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris +2 more
wiley +1 more source
Introduction to a Thematic Issue for WWOX [PDF]
Experimental Biology and Medicine, 2015 Since its discovery in 2000, WW domain-containing oxidoreductase (WWOX, FOR or WOX1) has been considered as a tumor suppressor protein. Global research focus has been aimed mainly toward this direction. In this thematic issue, updated information has been collected regarding the structure, function and signaling of WWOX, along with its critical role ...
openaire +1 more source
Hypoxic conditions differentially regulate TAZ and YAP in cancer cells [PDF]
, 2014 The Hippo-YAP pathway is altered and implicated as an oncogenic signaling pathway in many human cancers. Hypoxia is an important microenvironmental factor that promotes tumorigenesis.
Cai, Qingchun, Xu, Yan, Yan, Libo
core +1 more source
Mixture SNPs effect on phenotype in genome-wide association studies [PDF]
, 2015 © 2015 Wang et al.; licensee BioMed Central. Background: Recently mixed linear models are used to address the issue of "missing" heritability in traditional Genome-wide association studies (GWAS).
Guo, Guang +3 more
core +2 more sources
Transcriptomic analyses of regenerating adult feathers in chicken [PDF]
, 2015 Transcriptome Expression Data. Table of mapped reads to Galgal4 transcripts for all 15 data sets. FPKM (Fragments per kilobase of exon per million fragments mapped): normalized transcript abundance values for each gene in the indicated tissues.
Chen Siang Ng +16 more
core +6 more sources
Microarray Analysis Reveals Increased Transcriptional Repression and Reduced Metabolic Activity but Not Major Changes in the Core Apoptotic Machinery during Maturation of Sympathetic Neurons [PDF]
, 2016 Postnatal maturation of the neurons whose main phenotype and basic synaptic contacts are already established includes neuronal growth, refinement of synaptic contacts, final steps of differentiation, programmed cell death period (PCD) etc.
Jaan ePalgi +4 more
core +1 more source
WWOX P47T loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12 [PDF]
, 2022 Tabish Hussain +10 more
openalex +1 more source
The WWOX tumor suppressor gene in endometrial adenocarcinoma
International Journal of Molecular Medicine, 2013 Endometrial cancer is a lethal malignancy, the causes of which remain to be determined. The aim of the present study, carried out on tumor samples from 79 patients, was to evaluate the role of the WWOX tumor suppressor gene in endometrial adenocarcinoma.
Elżbieta, Płuciennik +4 more
openaire +3 more sources
Death-associated protein kinase 1 has a critical role in aberrant tau protein regulation and function [PDF]
, 2014 The presence of tangles composed of phosphorylated tau is one of the neuropathological hallmarks of Alzheimer's disease (AD). Tau, a microtubule (MT)-associated protein, accumulates in AD potentially as a result of posttranslational modifications, such ...
A Kimchi +8 more
core +1 more source