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The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. Zusätzlich bieten wir Ihnen und und viele weitere Produktgruppen zu diesem Protein an.
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Germline mosaicism resulted in a CHD2 gene missense variant and the development of autism spectrum disorder in two siblings.
study reports monozygotic twins with a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy; identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype
Results indicate a PARP1 (zeige PARP1 Antikörper)-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair.
CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures.
CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia.
CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome
CHD1 (zeige CHD1 Antikörper) and CHD2 act as positive regulators of HIV-1 gene expression.
The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity.
Human CHD2 is a chromatin assembly ATPase (zeige DNAH8 Antikörper) regulated by its chromatin- and DNA-binding domains.
Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome.
Chd2 is essential in preventing suppressive chromatin formation for developmentally regulated genes and determines subsequent effects on developmental processes in the undifferentiated state.
inactivation of CHD2 during neurogenesis might contribute to abnormal neurodevelopment
The data indicated that MyoD determines cell fate and facilitates differentiation- dependent gene expression through Chd2-dependent deposition of H3.3 at myogenic loci prior to differentiation.
Study present evidence that the Chd2 mutant cells are defective in their ability to repair DNA damage induced by ionizing and ultraviolet radiation.
Our results demonstrate that mutation of Chd2 dramatically affects mammalian development and long-term survival.
Chd2 heterozygous mutant mice exhibit increased extramedullary hematopoiesis and susceptibility to lymphomas.
Chd2-mutant mice present with glomerulopathy, proteinuria, and significantly impaired kidney function.
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
chromodomain helicase DNA binding protein 2
, ATP-dependent helicase CHD2
, chromodomain-helicase-DNA-binding protein 2