Cargando…

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E., Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646284/ https://www.ncbi.nlm.nih.gov/pubmed/26580071 http://dx.doi.org/10.1371/journal.pone.0142831

Ejemplares similares

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
por: Martinez de LaPiscina, Idoia, et al.
Publicado: (2018)

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations
por: Kalfa, Nicolas, et al.
Publicado: (2012)

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
por: Flück, Christa E., et al.
Publicado: (2019)

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
por: Flück, Christa E., et al.
Publicado: (2011)

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

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

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
por: Li, Lele, et al.
Publicado: (2020)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

Etiologies of 46,XY disorders of sex development (DSD): a collaborative study in Hong Kong
por: But, WM, et al.
Publicado: (2013)

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals
por: Wisniewski, Amy B.
Publicado: (2012)

Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report
por: Thakur, Surekha, et al.
Publicado: (2020)

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)

El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD
por: Granada, Maria Luisa, et al.
Publicado: (2021)

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1
por: Martínez de LaPiscina, Idoia, et al.
Publicado: (2020)

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
por: Shima, Hirohito, et al.
Publicado: (2018)

SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)
por: Adhikari, Amita, et al.
Publicado: (2019)

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD
por: Granada, Maria Luisa, et al.
Publicado: (2021)

When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD
por: Li, Oscar, et al.
Publicado: (2023)

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing
por: De Falco, Luigia, et al.
Publicado: (2021)

Abstract 33: Clinical exome sequencing in XY DSD
por: Das, Debaditya, et al.
Publicado: (2022)

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)

SUN-709 MiR-200c Expression Profiles in Plasma of 46,XY DSD Patients of Unknown Etiology
por: Elias, Felipe Martins, et al.
Publicado: (2020)

“Congruency the ART of Being Real” - 46XY DSD Due to 5 α Reductase Deficiency - Challenges in Decision Making
por: Subbiah, Sridhar, et al.
Publicado: (2021)

5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
por: Noroozi Asl, Samaneh, et al.
Publicado: (2023)

OR27-01 Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences/Disorders of Sex Development (DSD)
por: Almeida Gomes, Nathalia Lisboa Rosa, et al.
Publicado: (2020)

Oligogenic Origin of Differences of Sex Development in Humans
por: Camats, Núria, et al.
Publicado: (2020)

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
por: Yu, Bingqing, et al.
Publicado: (2021)

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
por: Veiga-Junior, Nélio Neves, et al.
Publicado: (2012)

Clinical, hormonal and chromosomal analysis of undervirilized male/46XY DSD – a 3years experience of national institute of child health
por: Atta, Irum, et al.
Publicado: (2013)

46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature
por: Zhao, Jiangying, et al.
Publicado: (2020)

MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46,XY DSD in the United States?
por: Whitehead, J, et al.
Publicado: (2020)

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
por: Akcan, Neşe, et al.
Publicado: (2022)

Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency
por: Cheng, Yiping, et al.
Publicado: (2022)

ODP381 Changes in Perceptions of Pediatric Endocrinologists (PE) and Urologists (PU) to Infants and Children regarding care of individuals with 46,XY DSD
por: Lee, Peter, et al.
Publicado: (2022)

Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
por: Choi, Jin-Ho, et al.
Publicado: (2015)

Female with 46, XY karyotype
por: Jung, Eun Jung, et al.
Publicado: (2017)

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

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
por: Marsudi, Bagas A., et al.
Publicado: (2018)

A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report
por: Yeste, Diego, et al.
Publicado: (2022)

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias
por: Allali, Slimane, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_kaavhessl6ipod03qeng40o0mf