Cargando…

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD). To date, pathogenic variants of three nuclear receptor genes (NR5A1, NR0B1, and NR2F2) have been reported to cause DSD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hattori, Atsushi, Fukami, Maki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135730/ https://www.ncbi.nlm.nih.gov/pubmed/37189438 http://dx.doi.org/10.3390/biom13040691

Ejemplares similares

Submicroscopic copy-number variations associated with 46,XY disorders of sex development
por: Kon, Masafumi, et al.
Publicado: (2015)

Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome
por: Fukami, Maki
Publicado: (2018)

Transverse testicular ectopia with disorders of sex development
por: Aoki, Katsuya, et al.
Publicado: (2012)

46XX Testicular Disorder of Sex Development
por: Mantravadi, Krishna Chaitanya, et al.
Publicado: (2021)

46XX Testicular Disorder of Sex Development
por: Maldar, Aasim N., et al.
Publicado: (2022)

Nuclear Sex of Testicular Teratomas
por: Dayan, A. D.
Publicado: (1963)

Genetic variants of G‐protein coupled receptors associated with pubertal disorders
por: Suzuki, Erina, et al.
Publicado: (2023)

46,XY disorder of sex development and wilms’ tumor due to mutation of WT1 gene: a case report
por: Dung, Vu Chi, et al.
Publicado: (2015)

Testicular Sertoli Cell Hormones in Differences in Sex Development
por: Lucas-Herald, Angela K., et al.
Publicado: (2022)

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly
por: Igarashi, Maki, et al.
Publicado: (2018)

46, XX Testicular Disorder of Sex Development: A Case Report
por: Mantravadi, Krishnachaitanya
Publicado: (2022)

Phenotype and genotype of patients with disorder of sex development due to 5α-reductase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development
por: Igarashi, Maki, et al.
Publicado: (2013)

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
por: Tamaoka, Satoshi, et al.
Publicado: (2021)

Possible misdiagnosis of 46,XX testicular disorders of sex development in infertile males
por: Chen, Tong, et al.
Publicado: (2020)

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells
por: Hattori, Atsushi, et al.
Publicado: (2019)

GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
por: Shimizu, Daisuke, et al.
Publicado: (2018)

Ten cases with 46,XX testicular disorder of sex development: single center experience
por: Akinsal, Emre Can, et al.
Publicado: (2017)

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development
por: Igarashi, Maki, et al.
Publicado: (2020)

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
por: Wu, Qiu-Yue, et al.
Publicado: (2014)

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review
por: Terribile, Marco, et al.
Publicado: (2019)

An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative)
por: Peretti, Vincenzo, et al.
Publicado: (2020)

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder
por: Hattori, Atsushi, et al.
Publicado: (2023)

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome
por: Aversa, Tommaso, et al.
Publicado: (2018)

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication
por: Lee, Gyung Min, et al.
Publicado: (2014)

FRI446 A Case Of 46 XX Testicular Disorder Of Sex Development Presenting As Hypogonadism And Infertility
por: Balachandar, Neeraja, et al.
Publicado: (2023)

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice
por: Miyado, Mami, et al.
Publicado: (2016)

Abnormal synaptic pruning during adolescence underlying the development of psychotic disorders
por: Germann, Monique, et al.
Publicado: (2021)

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development
por: Nixon, R., et al.
Publicado: (2017)

Insulin Receptor Substrate 2 Is Required for Testicular Development
por: Griffeth, Richard J., et al.
Publicado: (2013)

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
por: Hattori, Atsushi, et al.
Publicado: (2022)

Disorders of Sex Development
por: Kim, Kun Suk, et al.
Publicado: (2012)

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
por: Baetens, Dorien, et al.
Publicado: (2017)

Breast development and satisfaction in women with disorders/differences of sex development
por: van de Grift, Tim C, et al.
Publicado: (2019)

A rare case of 46, XX (SRY positive) testicular disorder of sex development with growth hormone deficiency: Case report
por: Li, Hanming, et al.
Publicado: (2021)

The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development
por: Faleiro, Dalana, et al.
Publicado: (2022)

PMON270 Coexistence of 46, XX Testicular Disorder of Sex Development and 11β-Hydroxylase Deficiency: In Vivo and In Vitro Studies
por: Bang, Sun, et al.
Publicado: (2022)

Vaginoplasty for Disorders of Sex Development
por: Guarino, Nino, et al.
Publicado: (2013)

Malignancy in disorders of sex development
por: Kathrins, Martin, et al.
Publicado: (2016)

Imaging of disorder of sex development
por: AlJurayyan, Nasir
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_cjscsj9mn932jaogrcn5ft6f0f