Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development [PDF]
Molecular Genetics & Genomic MedicineBackground 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases.
Wei Jiang +7 more
exaly +4 more sources
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants [PDF]
Case Reports in PediatricsBackground. The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype.
Katia Margiotti +2 more
exaly +4 more sources
Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development [PDF]
Frontiers in EndocrinologyThe RNA helicase DHX37 gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY
Huifang Peng, Keyan Hu, Chen Jiali
exaly +4 more sources
Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development [PDF]
Frontiers in EndocrinologyDifferences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Raghad Alhuthil
exaly +4 more sources
DHX37 variants in patients with 46,XY disorders or differences of sex development [PDF]
Human Genome VariationHere, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients.
Yuko Katoh-Fukui +2 more
exaly +3 more sources
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis [PDF]
Life, 2023 The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS).
Felipe Rodrigues de Oliveira +9 more
doaj +2 more sources
A novel DEAH-box helicase 37 mutation associated with differences of sex development [PDF]
Frontiers in Endocrinology, 2023 ObjectiveTo determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD).MethodsAssess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional ...
Yun Wan +6 more
doaj +2 more sources
Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [PDF]
BMC Medical GenomicsBackground The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li +8 more
doaj +2 more sources
Pancancer Fine-Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma. [PDF]
Adv Sci (Weinh)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 ...
Wang T +16 more
europepmc +2 more sources
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 +2 more sources