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KMT2B gene

Known as: LYSINE-SPECIFIC METHYLTRANSFERASE 2B, KMT2B, HRX2 
This gene is involved in both histone methylation and transcriptional regulation.
National Institutes of Health

Related topics

Related topics

6 relations
Histone-Lysine N-Methyltransferase 2B, humanMethylationOogenesisOvulation

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain… 
2020
2020
Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement.
2020
2020
KMT2B and Neuronal Transdifferentiation: Bridging Basic Chromatin Mechanisms to Disease Actionability
The role of bona fide epigenetic regulators in the process of neuronal transdifferentiation was until recently largely… 
2019
2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia… 
2019
2019
NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events
Although glioblastoma (GBM) is a common malignant brain tumor in older adults in the general population, the incidence of GBM is… 
2019
2019
Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing
Background: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Recently mutations in lysine-specific… 
2019
2019
[KMT2B variants responsible for children dystonia 28: report of two cases].
  • L. DaiC. Ding F. Fang
  • Zhonghua er ke za zhi = Chinese journal of…
  • 2019
  • Corpus ID: 195798402
2例KMT2B基因变异致肌张力障碍28型男性患儿，分别在2岁和2岁6月龄无诱因以下肢足尖行走起病，进行性加重，扭转痉挛逐渐波及双上肢、躯干、颈部。例1曾出现肌张力障碍持续状态表现。例2有家族史。2例患儿口服药物治疗均无效，例1… 
2017
2017
A novel, in‐frame KMT2B deletion in a patient with apparently isolated, generalized dystonia
Dystonia is clinically and genetically heterogeneous. Despite the discovery of a number of dystonia genes, the majority of early… 
Review
2017
Review
2017
Advances in pharmacotherapies for movement disorders in children: current limitations and future progress
Purpose of review In childhood, movement disorders are generated by a very large number of disorders of the nervous system, and… 
2017
2017
KMT2B: A new twist in dystonia genetics
With the advances of next-generation sequencing (NGS) technologies, we have been recognizing an ever-expanding spectrum of… 
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