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Wikipedia
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CHD8 - Wikipedia
Chromodomain-helicase-DNA-binding protein 8 is an enzyme that in humans is encoded by the CHD8 gene. The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8, which is a chromatin regulator enzyme that is essential during fetal development. CHD8 is an ATP dependent enzyme. The protein contains an Snf2 helicase domain that is responsible for t…
Clinical significance
Mutations in this gene have been linked to a subset of autism cases in human and mouse models.
Mutations … 展开
External links
• Human CHD8 genome location and CHD8 gene details page in the UCSC Genome Browser.
• Overview of all the structural information available in the PDB for UniProt: Q9HCK8 (Chromodomain-helicase-DNA-binding protein 8… 展开
Further reading
• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. … 展开
Dev Cell丨复旦团队揭示孤独症相关基因CHD8在少突胶质细胞发育、髓鞘形成和损伤后修复中的作用机理 - 知乎
CHD8基因属于SNF2H样ATP依赖染色质重塑子CHD家族（chromodomain helicase DNA-binding (CHD) family of SNF2H-like ATP-dependent chromatin remodelers），CHD8基因突变可导致 …
知乎专栏 · https://zhuanlan.zhihu.com/p/651659…
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知乎专栏
https://zhuanlan.zhihu.com
Dev Cell丨复旦团队揭示孤独症相关基因CHD8在少突胶 …
CHD8基因属于SNF2H样ATP依赖染色质重塑子CHD家族（chromodomain helicase DNA-binding (CHD) family of SNF2H-like ATP-dependent chromatin remodelers），CHD8基因突变可导致先天发育异常，包括生长迟缓和智力障 …
National Center for Biotechnology Information
https://www.ncbi.nlm.nih.gov › books
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
2022年10月27日 · CHD8 encodes chromodomain-helicase-DNA-binding protein 8 (CHD-8), a DNA helicase involved in several processes including transcriptional regulation, epigenetic …
- 已发布: 2022/10/27
GeneCards
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CHD8 Gene - GeneCards | CHD8 Protein | CHD8 Antibody
2024年12月24日 · CHD8 (Chromodomain Helicase DNA Binding Protein 8) is a Protein Coding gene. Diseases associated with CHD8 include Intellectual Developmental Disorder With …
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BRD4
OVCAR-8
Transcriptomics
MYC BRD4
Single Cell Transcriptomics
researchgate.net
Physical Characteristics of the CHD8 Phenotype (A) Facial phenotype... | Download Scientific Diagram
pnas.org
CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation | PNAS
frontiersin.org
Frontiers | Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism ...
cell.com
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development: Cell
cell.com
The autism-associated protein CHD8 is required for cerebellar development and motor function ...
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nih.gov
https://pmc.ncbi.nlm.nih.gov › articles
The Mechanisms of CHD8 in Neurodevelopment and …
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism. The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has …
腾讯网
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Cell 子刊：自闭症相关明星蛋白CHD8是小脑发育和运 …
2021年4月20日 · 本文报道了CHD8在小脑叶、颗粒层和Purkinje细胞中的功能障碍导致小脑发育不全和运动功能缺陷的研究。CHD8是一种染色质域解旋酶，可能通过激活GNP中的基因表达来调节小脑发育和运动功能。
其他用户还问了以下问题
What causes chd8-ndd?
Heterozygous pathogenic loss-of-function variants cause CHD8- NDD. The majority of pathogenic variants reported in association with CHD8 -NDD have been deletions and truncating and splicing variants. The gene is highly intolerant to loss-of-function variants in the general population [Karczewski et al 2020].
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
ncbi.nlm.nih.gov
How is chd8-ndd diagnosed?
Diagnosis/testing. The diagnosis of CHD8- NDD is established in a proband by identification of a heterozygous pathogenic (or likely pathogenic) variant in CHD8 by molecular genetic testing. Management.
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
ncbi.nlm.nih.gov
Does CHD8 regulate brain development?
In human neural progenitor cells (NPCs), human neuroprogenitor stem cells (hNPSC), and human neural stem cells (hNSCs), CHD8 was found to regulate the transcription of ASD risk factors and brain-development pathways, including neuron differentiation and synapse development, cell adhesion, and axon guidance [44, 48, 49].
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum
pmc.ncbi.nlm.nih.gov
Which neurodevelopmental disorders are caused by defects in CHD8?
Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. J Hum Genet. 2019;64:271–80. [PubMed]
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
ncbi.nlm.nih.gov
What is developmental delay / intellectual disability (chd8-ndd)?
Developmental delay / intellectual disability. Because the clinical presentation of CHD8- NDD typically includes nonspecific developmental delays, all disorders associated with intellectual disability and/or developmental delay, with or without overgrowth, should be considered in the differential diagnosis.
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
ncbi.nlm.nih.gov
What causes gastrointestinal problems associated with CHD8 pathogenic variants?
Preliminary research in a zebra fish model suggests that gastrointestinal problems associated with CHD8 pathogenic variants may be caused by a reduced number of vagal neural crest cells, decreased intestinal mobility, and increased inflammation (see bioRxiv).
CHD8 -Related Neurodevelopmental Disorder with Overgrowth
ncbi.nlm.nih.gov
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百度百科
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CHD8 - 百度百科
而本研究中关于chd8基因突变猴模型的发现再次证实了利用非人灵长类动物模型研究自闭症病理机制的必要性和不可取代性。美国耶鲁大学医学遗传学主任姜永辉、北京师范大学认知神经科 …
Nature
https://www.nature.com › articles
The autism risk factor CHD8 is a chromatin activator in human …
2022年12月27日 · The chromodomain helicase DNA-binding protein CHD8 is the most frequently mutated gene in autism spectrum disorder.
知乎专栏
https://zhuanlan.zhihu.com
Cell 子刊：CHD8单倍不足影响兴奋性和抑制性神经元 …
染色体域解旋酶dna结合蛋白8(chd8)基因突变是导致自闭症谱系障碍(asd)的一个重要的危险因素，但chd8单倍不足如何影响神经发育仍然未知。 2022年4月5日CN…
Cell Press
https://www.cell.com › cell-reports › fulltext
CHD8 haploinsufficiency links autism to transient …
2022年4月5日 · CHD8 haploinsufficiency is a high-confidence risk factor for ASD. Despite significant progress in genotype-phenotype relationships, the human neurodevelopmental trajectories that underlie them are still poorly understood.
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