|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.
|
12138111 |
2002 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
|
1423634 |
1992 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
|
27991732 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
|
21844811 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
|
10647011 |
1999 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cloning, expression and chromosome locations of the human DNMT3 gene family.
|
10433969 |
1999 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coordinate regulation of DNA methyltransferase expression during oogenesis.
|
17445268 |
2007 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
|
19344873 |
2009 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.
|
17878930 |
2007 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.
|
15739230 |
2005 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
|
10555141 |
1999 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.
|
20228804 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNMT3A mutations in acute myeloid leukemia.
|
21067377 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.
|
20729844 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.
|
20651149 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.
|
15672446 |
2005 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.
|
16725135 |
2006 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.
|
11399089 |
2001 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
|
28667884 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |