[HTML][HTML] Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
Mendelian disorders of the epigenetic machinery (MDEMs) are a group of
neurodevelopmental disorders caused by pathogenic variants in genes that encode …
neurodevelopmental disorders caused by pathogenic variants in genes that encode …
MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability
JH Yang, ZG Liu, CL Liu, MR Zhang, YL Jia… - … : European Journal of …, 2024 - Elsevier
Objectives The MED12 gene encodes mediator complex subunit 12, which is a component
of the mediator complex involved in the transcriptional regulation of nearly all RNA …
of the mediator complex involved in the transcriptional regulation of nearly all RNA …
[HTML][HTML] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K Hamanaka, N Miyake, T Mizuguchi, S Miyatake… - Genome Medicine, 2022 - Springer
Background Previous large-scale studies of de novo variants identified a number of genes
associated with neurodevelopmental disorders (NDDs); however, it was also predicted that …
associated with neurodevelopmental disorders (NDDs); however, it was also predicted that …
[HTML][HTML] Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches
R Hollstein, A Peron, KS Wendt… - Frontiers in Cell and …, 2023 - frontiersin.org
Omics technologies have triggered a transformation in the field of clinical genetics and
molecular biology. The evaluation of the whole genome in terms of genomic variations …
molecular biology. The evaluation of the whole genome in terms of genomic variations …
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects
LC Francesca, R Claudia, C Molinario… - Child's Nervous …, 2016 - Springer
Abstract Purpose Neural tube defects (NTDs) occur in 1: 1000 births. The etiology is
complex, with the influence of environmental and genetic factors. Environmental factors …
complex, with the influence of environmental and genetic factors. Environmental factors …
[引用][C] Importance of model organisms in understanding the biology and genetic basis of human nonsyndromic neural tube defects
J Gelineau‐Van Waes, RH Finnell - Teratology, 2001 - Wiley Online Library
Neural tube defects (NTDs), including both spina bifida and anencephaly, are common
human congenital malformations that appear to be etiologically heterogeneous (Holmes et …
human congenital malformations that appear to be etiologically heterogeneous (Holmes et …
[HTML][HTML] Neuron-specific menin deletion leads to synaptic dysfunction and cognitive impairment by modulating p35 expression
K Zhuang, C Huang, L Leng, H Zheng, Y Gao, G Chen… - Cell reports, 2018 - cell.com
Menin (MEN1) is a critical modulator of tissue development and maintenance. As such,
MEN1 mutations are associated with multiple endocrine neoplasia type 1 (MEN1) syndrome …
MEN1 mutations are associated with multiple endocrine neoplasia type 1 (MEN1) syndrome …
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development …
W Hofmeister, M Pettersson, D Kurtoglu… - Human …, 2018 - Wiley Online Library
Congenital malformations affecting the neural tube can present as isolated malformations or
occur in association with other developmental abnormalities and syndromes. Using high …
occur in association with other developmental abnormalities and syndromes. Using high …
The search for genetic determinants of human neural tube defects
P Wolujewicz, ME Ross - Current opinion in pediatrics, 2019 - journals.lww.com
The search for genetic determinants of human neural tube def... : Current Opinion in
Pediatrics The search for genetic determinants of human neural tube defects : Current …
Pediatrics The search for genetic determinants of human neural tube defects : Current …
[HTML][HTML] MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism
C Wang, L Lin, Y Xue, Y Wang, Z Liu, Z Ou, S Wu… - Frontiers in …, 2020 - frontiersin.org
The RNA polymerase II transcription subunit 12 homolog (MED12) is a member of the
mediator complex, which plays a critical role in RNA transcription. Mutations in MED12 …
mediator complex, which plays a critical role in RNA transcription. Mutations in MED12 …