Cargando…

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

CONTEXT: Variants in bone morphogenetic protein 7 (BMP7) have been reported in patients with hypospadias. Here we report and analyze two variants in the BMP7 prodomain in monozygotic twins with hypospadias. MATERIALS AND METHODS: Patients with hypospadias were prospectively recruited. After informed...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bouty, Aurore, Walton, Kelly, Listyasari, Nurin Aisyiyah, Robevska, Gorjana, Van den Bergen, Jocelyn, Santosa, Ardy, Faradz, Sultana M H, Harrison, Craig, Ayers, Katie L, Sinclair, Andrew H
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446891/ https://www.ncbi.nlm.nih.gov/pubmed/30963139 http://dx.doi.org/10.1210/js.2018-00333

Ejemplares similares

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
por: Ayers, Katie L., et al.
Publicado: (2017)

Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias
por: Listyasari, Nurin A., et al.
Publicado: (2022)

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development
por: Ayers, Katie, et al.
Publicado: (2019)

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
por: Robevska, Gorjana, et al.
Publicado: (2017)

The Prodomain-bound Form of Bone Morphogenetic Protein 10 Is Biologically Active on Endothelial Cells
por: Jiang, He, et al.
Publicado: (2016)

Alternative mRNA Splicing Generates Two Distinct ADAM12 Prodomain Variants
por: Duhachek-Muggy, Sara, et al.
Publicado: (2013)

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
por: Ayers, Katie, et al.
Publicado: (2019)

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
por: van den Bergen, Jocelyn A., et al.
Publicado: (2020)

The anti-Müllerian hormone prodomain is displaced from the hormone/prodomain complex upon bivalent binding to the hormone receptor
por: Cate, Richard L., et al.
Publicado: (2021)

Two-stage repair in hypospadias
por: Haxhirexha, K. N., et al.
Publicado: (2008)

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
por: Rothacker, Karen M., et al.
Publicado: (2018)

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice
por: Bagheri-Fam, Stefan, et al.
Publicado: (2020)

The Study of the Inhibition of the Recombinant TACE Prodomain to Endotoxemia in Mice
por: Li, Xiaoou, et al.
Publicado: (2009)

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients
por: Knarston, Ingrid M., et al.
Publicado: (2018)

Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins
por: Giuffrè, Mario, et al.
Publicado: (2011)

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome
por: Thomson, Ella, et al.
Publicado: (2022)

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
por: Kline, Brianna L., et al.
Publicado: (2022)

Prodomain of Furin Promotes Phospholipid Transfer Protein Proteasomal Degradation in Hepatocytes
por: Yu, Yang, et al.
Publicado: (2018)

Prodomain–growth factor swapping in the structure of pro-TGF-β1
por: Zhao, Bo, et al.
Publicado: (2018)

The prodomain of caspase-3 regulates its own removal and caspase activation
por: Ponder, Katelyn G., et al.
Publicado: (2019)

Two Cases of Mirror-Image Eye Anomalies in Monozygotic Twins
por: Kim, Wook Kyum, et al.
Publicado: (2010)

Two Stages Repair of Proximal Hypospadias: Review of 700 Cases
por: Shukla, Arvind Kumar, et al.
Publicado: (2017)

Prodomain Removal Enables Neto to Stabilize Glutamate Receptors at the Drosophila Neuromuscular Junction
por: Kim, Young-Jun, et al.
Publicado: (2015)

HIV-1 infected monozygotic twins: a tale of two outcomes
por: Tazi, Loubna, et al.
Publicado: (2011)

Kawasaki disease in two sets of monozygotic twins: Is the etiology genetic or environmental?
por: Zhang, Xiaomei, et al.
Publicado: (2013)

Two cases of atypical twinning: Phenotypically discordant monozygotic and conjoined twins
por: Barnes‐Davis, Maria E., et al.
Publicado: (2019)

Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report
por: Zhang, Shihan, et al.
Publicado: (2020)

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
por: Croft, Brittany, et al.
Publicado: (2019)

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
por: Croft, Brittany, et al.
Publicado: (2018)

An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development
por: Knarston, Ingrid M., et al.
Publicado: (2020)

Penile Urethral Hypospadias with Two Fistulae and Diverticulum in a Saanen Kid
por: Almubarak, Areeg Mohamed, et al.
Publicado: (2016)

Development of a Cell-Based Assay to Assess Binding of the proNGF Prodomain to Sortilin
por: Malik, Ibrahim, et al.
Publicado: (2017)

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing
por: Pohl, Greta Marie, et al.
Publicado: (2023)

Hypospadias
por: Djakovic, N., et al.
Publicado: (2008)

Hypospadias
Publicado: (2016)

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
por: Tucker, Elena J., et al.
Publicado: (2022)

Highly Specific Detection of Myostatin Prodomain by an Immunoradiometric Sandwich Assay in Serum of Healthy Individuals and Patients
por: Breitbart, Astrid, et al.
Publicado: (2013)

Lingual mucosal graft two-stage Bracka technique for redo hypospadias repair
por: Sakr, Ahmed, et al.
Publicado: (2017)

Comparison of Two Tubularized Incised Plate Urethroplasty Techniques in Hypospadias Reconstructive Surgery
por: Kambouri, Katerina, et al.
Publicado: (2020)

Regulatory Elements within the Prodomain of Falcipain-2, a Cysteine Protease of the Malaria Parasite Plasmodium falciparum
por: Pandey, Kailash C., et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_3vkqf22tskjk9km56avd2tbvoj