Genetic variations in patient with Parry–Romberg syndrome [PDF]
Scientific Reports, 2023 Parry–Romberg syndrome is a rare craniofacial disorder which is characterized by progressive facial atrophy. The etiology and pathogenesis of the disease are not known. Herein, we report the genetic variants in patient with this disease.
Bao-Fu Yu +3 more
doaj +3 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 +4 more sources
DHX37 Is a Promising Prognostic Biomarker and a Therapeutic Target for Immunotherapy and Chemotherapy in HCC [PDF]
Cancers, 2023 DHX37, a member of the DEAD/H-box RNA helicase family, has been implicated in various diseases, including tumors. However, the biological characteristics and prognostic significance of DHX37 in HCC remain unclear.
Jin Sun, Zongfang Li, Nanbin Liu
exaly +3 more sources
Journal of Immunology Research, 2020 Background. RNA helicases have various essential functions in basically all aspects of RNA metabolism, not only unwinding RNA but also disturbing the interaction of RNA with proteins.
Yanni Xu +6 more
doaj +2 more sources
Pancancer Fine‐Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma [PDF]
Advanced Science, Volume 13, Issue 25, 4 May 2026.This study identifies mutation‐intolerant genes (MIGs), which are mutationally constrained in tumors despite normal‐tissue variability. Using miDriver, the authors pinpoint MIGs essential for tumor‐intrinsic fitness and immune evasion. Focusing on CHEK1, they show it drives tumor fitness and sculpts an immunosuppressive niche via the MIF–CD74 axis ...
Tao Wang +16 more
wiley +2 more sources
Research progress in the role of DHX37 gene in disorders of sex development [PDF]
Shanghai Jiaotong Daxue xuebao. Yixue banDisorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
doaj +2 more sources
Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing [PDF]
Orphanet Journal of Rare DiseasesIntroduction Differences in sex development (DSD) with 46,XY karyotype are a group of rare congenital conditions affecting the structure and function of the urogenital system.
Ewa Błaszczyk +11 more
doaj +2 more sources
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
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
Genomic technologies and the diagnosis of 46, XY differences of sex development [PDF]
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 +2 more sources