Cargando…

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylglutaryl coenzyme A synthase 2 (HMGCS2), encoding a met...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bagheri-Fam, Stefan, Chen, Huijun, Wilson, Sean, Ayers, Katie, Hughes, James, Sloan-Bena, Frederique, Calvel, Pierre, Robevska, Gorjana, Puisac, Beatriz, Kusz-Zamelczyk, Kamila, Gimelli, Stefania, Spik, Anna, Jaruzelska, Jadwiga, Warenik-Szymankiewicz, Alina, Faradz, Sultana, Nef, Serge, Pié, Juan, Thomas, Paul, Sinclair, Andrew, Wilhelm, Dagmar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946174/ https://www.ncbi.nlm.nih.gov/pubmed/31910233 http://dx.doi.org/10.1371/journal.pone.0227411

Ejemplares similares

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

A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9
por: Sirokha, Dmytro, et al.
Publicado: (2021)

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

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)

Loss of HMGCS2 Enhances Lipogenesis and Attenuates the Protective Effect of the Ketogenic Diet in Liver Cancer
por: Wang, Yuan-Hsi, 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)

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

Regulation of Ketogenic Enzyme HMGCS2 by Wnt/β-catenin/PPARγ Pathway in Intestinal Cells
por: Kim, Ji Tae, et al.
Publicado: (2019)

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

HMGCS2 is a key ketogenic enzyme potentially involved in type 1 diabetes with high cardiovascular risk
por: Shukla, Sanket Kumar, et al.
Publicado: (2017)

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)

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)

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 Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias
por: Bouty, Aurore, et al.
Publicado: (2019)

Insulin and IGF1 Receptors Are Essential for XX and XY Gonadal Differentiation and Adrenal Development in Mice
por: Pitetti, Jean-Luc, et al.
Publicado: (2013)

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

Mevalonate Pathway Enzyme HMGCS1 Contributes to Gastric Cancer Progression
por: Wang, I-Han, et al.
Publicado: (2020)

SPIN1 is a proto-oncogene and SPIN3 is a tumor suppressor in human seminoma
por: Janecki, Damian Mikolaj, et al.
Publicado: (2018)

The c.1460C>T Polymorphism of MAO-A Is Associated with the Risk of Depression in Postmenopausal Women
por: Słopień, R., et al.
Publicado: (2012)

Idi1 and Hmgcs2 Are Affected by Stretch in HL-1 Atrial Myocytes
por: Fang, Chih-Yuan, et al.
Publicado: (2018)

HMGCS2 Mediates Ketone Production and Regulates the Proliferation and Metastasis of Hepatocellular Carcinoma
por: Wang, Yuan-Hsi, et al.
Publicado: (2019)

Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis
por: Asif, Shaza, et al.
Publicado: (2022)

Liver HMGCS2 is critical in the maintenance of liver lipid homeostasis during fasting
por: Zhou, Yunfeng, et al.
Publicado: (2022)

Recurrent loss of HMGCS2 shows that ketogenesis is not essential for the evolution of large mammalian brains
por: Jebb, David, et al.
Publicado: (2018)

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient
por: Heidari, Masoud, et al.
Publicado: (2020)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring
por: Capra, Valeria, et al.
Publicado: (2013)

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
por: Tassano, Elisa, et al.
Publicado: (2013)

Stromal regulation of prostate cancer cell growth by mevalonate pathway enzymes HMGCS1 and HMGCR
por: Ashida, Shingo, et al.
Publicado: (2017)

Predictive significance of HMGCS2 for prognosis in resected Chinese esophageal squamous cell carcinoma patients
por: Tang, Hong, et al.
Publicado: (2017)

CircHMGCS1 Promotes Hepatoblastoma Cell Proliferation by Regulating the IGF Signaling Pathway and Glutaminolysis
por: Zhen, Ni, et al.
Publicado: (2019)

Antidiabetic drug metformin suppresses tumorigenesis through inhibition of mevalonate pathway enzyme HMGCS1
por: Chen, Yiyan, et al.
Publicado: (2022)

LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease
por: Bai, Mi, et al.
Publicado: (2023)

HMGCS2 Mediation of Ketone Levels Affects Sorafenib Treatment Efficacy in Liver Cancer Cells
por: Suk, Fat-Moon, et al.
Publicado: (2022)

Hmgcs2 regulates M2 polarization of macrophages to repair myocardial injury induced by sepsis
por: Zou, Xiao-Zheng, et al.
Publicado: (2023)

HMGCS2 serves as a potential biomarker for inhibition of renal clear cell carcinoma growth
por: Mao, Huajie, et al.
Publicado: (2023)

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

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)

Keratin 8 absence down-regulates colonocyte HMGCS2 and modulates colonic ketogenesis and energy metabolism
por: Helenius, Terhi O., et al.
Publicado: (2015)

FABP7 and HMGCS2 Are Novel Protein Markers for Apocrine Differentiation Categorizing Apocrine Carcinoma of the Breast
por: Gromov, Pavel, et al.
Publicado: (2014)

Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development
por: Quintana, Anita M., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_c3nbba96emvq39rupatvd77p95