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.
Jiyun Yang
exaly +5 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, Maki Fukami
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.
Libotte Francesco +2 more
exaly +4 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 +3 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, Hongwei Jiang, Keyan Hu
exaly +4 more sources
Multi-omics analysis the effects of Dhx37 deficiency on testis development and nucleolar homeostasis [PDF]
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 +3 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
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 +4 more sources
DHX37 and tumor growth: a novel avenue for melanoma research [PDF]
Journal of Translational MedicineIntroduction This study explores a novel mechanism by which the RNA helicase DHX37 contributes to melanoma and elucidates the reasons for resistance to tumor immunotherapy, providing new insights for the treatment of melanoma.
Ruoxi Chen +4 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