[HTML][HTML] Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects

T Tian, X Cao, Y Chen, L Jin, Z Li, X Han… - Frontiers in cell and …, 2021 - frontiersin.org
Background Neural tube defects (NTDs) are among the most common and severe
congenital defects in humans. Their genetic etiology is complex and remains poorly …

Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency

KH Utami, CL Winata, AM Hillmer, I Aksoy… - Human …, 2014 - Wiley Online Library
ABSTRACT MED13L is a component subunit of the M ediator complex, an important
regulator of transcription that is highly conserved across eukaryotes. Here, we report …

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

J Zou, F Wang, X Yang, H Wang, L Niswander… - Neural …, 2020 - Springer
Abstract Background Neural tube defects (NTDs) are failure of neural tube closure, which
includes multiple central nervous system phenotypes. More than 300 mouse mutant strains …

Whole exome sequencing identifies novel predisposing genes in neural tube defects

P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neural tube defects (NTD) are among the most common defects affecting 1:
1000 births. They are caused by a failure of neural tube closure during development. Their …

Exploring epigenomic mechanisms of neural tube defects using multi‐omics methods and data

W Huang, Z Yuan, H Gu - Annals of the New York Academy of …, 2022 - Wiley Online Library
Neural tube defects (NTDs) are a heterogeneous set of malformations attributed to
disruption in normal neural tube closure during early embryogenesis. An in‐depth …

Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis

PP Rocha, W Bleiss, H Schrewe - Birth Defects Research Part …, 2010 - Wiley Online Library
BACKGROUND: A precise temporal and spatial regulation of gene expression is necessary
to achieve neural tube closure. Med12, a subunit of the mediator complex, can bind …

Approaches to studying the genomic architecture of complex birth defects

TE Taiwo, X Cao, RM Cabrera, Y Lei… - Prenatal …, 2020 - Wiley Online Library
Every year nearly 6 percent of children worldwide are born with a serious congenital
malformation, resulting in death or lifelong disability. In the United States, birth defects …

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

DL Polla, EJ Bhoj, J Verheij, JSK Wassink-Ruiter… - Genetics in …, 2021 - nature.com
Purpose MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA
polymerase II transcription and regulation of cell growth, development, and differentiation …

Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects

RYM Leduc, P Singh, HE McDermid - Birth Defects Research, 2017 - Wiley Online Library
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord,
is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have …

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

A Charzewska, R Maiwald, K Kahrizi… - Clinical …, 2018 - Wiley Online Library
MED12 is a member of the large Mediator complex that controls cell growth, development,
and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at …