Cargando…

A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9

SIMPLE SUMMARY: Disorders/differences of sexual development are very diverse. Among them is a condition characterized by the presence of testicular tissue in people with female chromosomes, which is typically manifested by male or ambiguous genitalia. While genetic counseling is beneficial for these...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sirokha, Dmytro, Gorodna, Olexandra, Vitrenko, Yakov, Zelinska, Nataliya, Ploski, Rafal, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila, Livshits, Ludmila
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8698877/ https://www.ncbi.nlm.nih.gov/pubmed/34943163 http://dx.doi.org/10.3390/biology10121248

Ejemplares similares

Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
por: Sirokha, Dmytro, et al.
Publicado: (2020)

THU189 Complex Treatment Of Recurrent Gynecomastia In An Affirmed Male With 46XX Ovotesticular Difference Of Sexual Differentiation (DSD).
por: Jumani, Sanjay, et al.
Publicado: (2023)

Functional Effects In Silico Prediction for Androgen Receptor Ligand-Binding Domain Novel I836S Mutation
por: Rayevsky, Alexey, et al.
Publicado: (2021)

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature
por: Gretser, Steffen, et al.
Publicado: (2021)

Emerging Roles of NANOS RNA-Binding Proteins in Cancer
por: Ilaslan, Erkut, et al.
Publicado: (2022)

A rare case of 46XX ovotesticular disorder of sex development
por: Reddy, Sagar S.L., et al.
Publicado: (2020)

46,XX DSD: Developmental, Clinical and Genetic Aspects
por: Alkhzouz, Camelia, et al.
Publicado: (2021)

An ovulating follicle presenting as a testicular mass in a teenage patient with ovotesticular DSD
por: Roth, Joshua D., et al.
Publicado: (2018)

MON-062 46 XX DSD Due to POR Deficiency
por: Reddy, Nithin Modhugu, et al.
Publicado: (2020)

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome
por: Ilaslan, Erkut, et al.
Publicado: (2020)

The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
por: Carvalheira, Gianna, et al.
Publicado: (2019)

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report
por: Li, Zixiang, et al.
Publicado: (2020)

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
por: Arya, Sneha, et al.
Publicado: (2021)

CORRIGENDUM FOR “The Natural History of a Man With Ovotesticular 46,XX DSD Due to a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene”
Publicado: (2020)

Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series
por: Mao, Yu, et al.
Publicado: (2017)

46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report
por: Macías-Gómez, Nelly Margarita, et al.
Publicado: (2012)

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation
por: Talreja, Shyam M., et al.
Publicado: (2015)

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

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

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodology II) Biochemical and genetic markers in 46,XX DSD
por: Granada, Maria Luisa, et al.
Publicado: (2021)

46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features
por: Baronio, Federico, et al.
Publicado: (2019)

A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
por: Mengen, Eda, et al.
Publicado: (2020)

Distinct Roles of NANOS1 and NANOS3 in the Cell Cycle and NANOS3-PUM1-FOXM1 Axis to Control G2/M Phase in a Human Primordial Germ Cell Model
por: Ilaslan, Erkut, et al.
Publicado: (2022)

Human NANOS1 Represses Apoptosis by Downregulating Pro-Apoptotic Genes in the Male Germ Cell Line
por: Janecki, Damian M., et al.
Publicado: (2020)

Ovotesticular Disorder With Seminoma
por: Samantray, Subha R, et al.
Publicado: (2020)

Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
por: McElreavey, Kenneth, et al.
Publicado: (2017)

46,XY ovotesticular disorders of sex development: A therapeutic challenge
por: Scarpa, Maria-Grazia, et al.
Publicado: (2017)

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development
por: Qian, Zhiyu, et al.
Publicado: (2021)

Characterization of RNP Networks of PUM1 and PUM2 Post-Transcriptional Regulators in TCam-2 Cells, a Human Male Germ Cell Model
por: Smialek, Maciej J., et al.
Publicado: (2020)

PMON33 Non-Syndromic SRY Negative 46 XX Testicular Disorder of Sex Development (DSD): A Rare Cause of Infertility
por: Riaz, Aiman, et al.
Publicado: (2022)

PMON33 Non-Syndromic SRY Negative 46 XX Testicular Disorder of Sex Development (DSD); A rare cause of Infertility
por: Riaz, Aiman, et al.
Publicado: (2022)

46 XY Ovotesticular Disorder: A Rare Case Report with Review of Literature
por: Meenal, Bhati, et al.
Publicado: (2021)

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Ovotesticular Disorder of Sex Development: An Unusual Presentation
por: Özdemir, Meltem, et al.
Publicado: (2019)

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
por: Marcinkowska-Swojak, Malgorzata, et al.
Publicado: (2015)

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
por: Hersmus, Remko, et al.
Publicado: (2012)

Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development
por: Eser, Metin, et al.
Publicado: (2018)

Ovotesticular Differences of Sex Development: Surgery or Not Surgery? That Is the Question
por: Scarpa, Maria-Grazia
Publicado: (2017)

Abstract 82: Rare case of 46XY OVO testicular DSD
por: Naushad, Altaf Ali, et al.
Publicado: (2022)

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations
por: Fendereski, Kiarad, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qpri5cbtbsl29ur4preoupkg8n