Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing [PDF]
Frontiers in EndocrinologyBackgroundMore than 60% of cases of 46,XY gonadal dysgenesis (GD), a condition classified as a disorder of sex development (DSD), remain unexplained, which is due to high genetic and clinical heterogeneity.
Ning Zhang +12 more
doaj +2 more sources
Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus [PDF]
Frontiers in MedicineThe nuclear receptor subfamily 5 group A member 1 (NR5A1) gene encodes NR5A1, also known as steroidogenic factor 1, a crucial transcriptional factor regulating adrenal and gonadal development and function.
Toru Sasaki +10 more
doaj +2 more sources
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus [PDF]
Orphanet Journal of Rare DiseasesBackground Disorders of sexual development (DSDs) are a group of rare conditions with a discordance of chromosomal, gonadal, or phenotypic features of the internal and/or external genitalia, which accounts for 0.5% of the population.
Leilei Ding +4 more
doaj +2 more sources
Multi-omics analysis the effects of Dhx37 deficiency on testis development and nucleolar homeostasis
Cell Death DiscoveryThe testicular microenvironment, with Sertoli cells as a key component, plays a pivotal role in spermatogenesis. DHX37, a member of the DEAH-box family of RNA helicases, has been identified as a pathogenic gene in 46, XY disorders of sex development (DSD)
Huifang Peng +2 more
exaly +2 more sources
Genomic technologies and the diagnosis of 46, XY differences of sex development. [PDF]
AndrologyAbstract 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 ...
Idris F, Sinclair AH, Ayers KL.
europepmc +2 more sources
DHX37 Is a Promising Prognostic Biomarker and a Therapeutic Target for Immunotherapy and Chemotherapy in HCC [PDF]
Cancers, 2023 Nanbin Liu, Zongfang Li, Jin Sun
exaly +2 more sources
RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1 [PDF]
Cancer Research, 2022 Youqiong Ye, Yizhe Liu, Huifang Chen
exaly +2 more sources
Regulation and function of poised mRNAs in lymphocytes
BioEssays, Volume 45, Issue 5, May 2023., 2023 Poised transcripts are messenger RNAs that are not being translated but can be translated in response to stimuli. In lymphocytes poised transcripts encode cytokines and other proteins involved in cell fate. Candidate mechanisms for reversible transcript poising involving RNA binding proteins and the chemical, structural or spatial modification of mRNA ...
Martin Turner
wiley +1 more source
Frontiers in Genetics, 2022 Background: This study aimed to screen potential drugs targeting a new prognostic gene signature associated with proliferation in hepatocellular carcinoma (HCC).Methods: CRISPR Library and TCGA datasets were used to explore differentially expressed genes
Jun Liu +5 more
doaj +1 more source
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination
Clinical Genetics, Volume 103, Issue 3, Page 277-287, March 2023., 2023 Immunofluorescence analysis in a FGF9‐D195N mouse model: XY Fgf9D195N/− mice show partial gonadal sex reversal, expressing the meiotic germ cell marker γH2AX (b) and the ovarian somatic cell marker FOXL2 (d). XY Fgf9+/− mice were used as controls (a, c). AMH is a marker of testicular Sertoli cells. Scale bars 100 μm.
Brittany Croft +14 more
wiley +1 more source