Cargando…

MEF2C loss-of-function mutation contributes to congenital heart defects

Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and present...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qiao, Xiao-Hui, Wang, Fei, Zhang, Xian-Ling, Huang, Ri-Tai, Xue, Song, Wang, Juan, Qiu, Xing-Biao, Liu, Xing-Yuan, Yang, Yi-Qing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ivyspring International Publisher 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666546/ https://www.ncbi.nlm.nih.gov/pubmed/29104469 http://dx.doi.org/10.7150/ijms.21353

Ejemplares similares

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome
por: Zhao, Cui-Mei, et al.
Publicado: (2015)

SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease
por: Wang, Zhi, et al.
Publicado: (2022)

PITX2c Loss-of-Function Mutations Responsible for Congenital Atrial Septal Defects
por: Yuan, Fang, et al.
Publicado: (2013)

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis
por: Sun, Yu-Min, et al.
Publicado: (2016)

Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias
por: Li, Yan-Jie, et al.
Publicado: (2023)

Mutations in Hnrnpa1 cause congenital heart defects
por: Yu, Zhe, et al.
Publicado: (2018)

Mutation spectrum of GATA4 associated with congenital atrial septal defects
por: Yang, Yi-Qing, et al.
Publicado: (2013)

Loss of MEF2D expression inhibits differentiation and contributes to oncogenesis in rhabdomyosarcoma cells
por: Zhang, Meiling, et al.
Publicado: (2013)

A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus
por: Ke, Zun-Ping, et al.
Publicado: (2022)

Novel GATA4 mutations in patients with congenital ventricular septal defects
por: Yang, Yi-Qing, et al.
Publicado: (2012)

Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease
por: Shi, Hong-Yu, et al.
Publicado: (2022)

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus
por: Huang, Ri-Tai, et al.
Publicado: (2017)

KLF13 Loss‐of‐Function Mutations Underlying Familial Dilated Cardiomyopathy
por: Guo, Yu‐Han, et al.
Publicado: (2022)

MEF2 transcription factors differentially contribute to retinal ganglion cell loss after optic nerve injury
por: Xia, Xin, et al.
Publicado: (2020)

Ctdp1 deficiency leads to early embryonic lethality in mice and defects in cell cycle progression in MEFs
por: Qiao, Fangfang, et al.
Publicado: (2021)

Loss of GLTSCR1 causes congenital heart defects by regulating NPPA transcription
por: Han, Fengyan, et al.
Publicado: (2023)

Hypertensive Disorders in Pregnancy Are Associated With Congenital Heart Defects in Offspring: A Systematic Review and Meta-Analysis
por: Zhang, Senmao, et al.
Publicado: (2022)

Surgery for Congenital Heart Defects
por: Singleton, Matthew J.
Publicado: (2008)

MEF2B mutations in non-Hodgkin lymphoma dysregulate cell migration by decreasing MEF2B target gene activation
por: Pon, Julia R., et al.
Publicado: (2015)

PRRX1 Loss‐of‐Function Mutations Underlying Familial Atrial Fibrillation
por: Guo, Xiao‐Juan, et al.
Publicado: (2021)

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
por: Hsieh, Alexander, et al.
Publicado: (2020)

Heart Failure and MEF2 Transcriptome Dynamics in Response to β-Blockers
por: Tobin, S. W., et al.
Publicado: (2017)

An essential role for MEF2C in the cortical response to loss of sleep in mice
por: Bjorness, Theresa E, et al.
Publicado: (2020)

Congenital heart defects in genetics syndromes
por: Digilio, M Cristina, et al.
Publicado: (2015)

Ventricular Function in Congenital Heart Defects
por: Corno, Antonio F.
Publicado: (2016)

Polymalformative syndrome with congenital heart defect
por: Marcos, Sara Pimentel, et al.
Publicado: (2015)

Pregestational Diabetes and Congenital Heart Defects
por: Maduro, Catarina, et al.
Publicado: (2022)

Preeclampsia and Fetal Congenital Heart Defects
por: Ferreira, Bárbara D., et al.
Publicado: (2022)

Determinants of Immediate Extubation in the Operating Room after Total Thoracoscopic Closure of Congenital Heart Defects
por: Yu, Ai-Lan, et al.
Publicado: (2013)

A SHOX2 loss-of-function mutation underlying familial atrial fibrillation
por: Li, Ning, et al.
Publicado: (2018)

MIB1 mutations reduce Notch signaling activation and contribute to congenital heart disease
por: Li, Binbin, et al.
Publicado: (2018)

Predicted transmembrane proteins with homology to Mef(A) are not responsible for complementing mef(A) deletion in the mef(A)–msr(D) macrolide efflux system in Streptococcus pneumoniae
por: Fox, Valeria, et al.
Publicado: (2021)

Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes
por: Khodyuchenko, Tatiana, et al.
Publicado: (2015)

Maternal folic acid supplementation and dietary folate intake and congenital heart defects
por: Mao, Baohong, et al.
Publicado: (2017)

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
por: Trevino, Cristina E., et al.
Publicado: (2020)

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects
por: Erhardt, Shannon, et al.
Publicado: (2021)

Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals
por: Chen, Kuchuan, et al.
Publicado: (2016)

Maternal Folic Acid Supplementation and the Risk of Congenital Heart Defects in Offspring: A Meta-Analysis of Epidemiological Observational Studies
por: Feng, Yu, et al.
Publicado: (2015)

Distinct functions of alternatively spliced isoforms encoded by zebrafish mef2ca and mef2cb
por: Ganassi, M., et al.
Publicado: (2014)

Risk factors predisposing to congenital heart defects
por: Ul Haq, Faheem, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_v4qt6gucdlsn95jmb29jjion5g