Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeMutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromeRegulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseExpansion of the RASopathiesNovel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21)Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationExpression atlas of the multivalent epigenetic regulator Brpf1 and its requirement for survival of mouse embryos.Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsDeficiency of the chromatin regulator BRPF1 causes abnormal brain development.The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors.The chromatin regulator Brpf1 regulates embryo development and cell proliferationThe Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival.Further delineation of the KAT6B molecular and phenotypic spectrumDe novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.A Fleeting Glimpse Inside microRNA, Epigenetics, and Micropeptidomics.High-precision genetic mapping of behavioral traits in the diversity outbred mouse population.BRPF1 is essential for development of fetal hematopoietic stem cellsEpigenetic influence of KAT6B and HDAC4 in the development of skeletal malocclusionCrosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes.Lysine Acetylation and Deacetylation in Brain Development and NeuropathiesLysine acetylation: enzymes, bromodomains and links to different diseases.Attention-deficit/hyperactivity disorder genomics: update for clinicians.Genetic syndromes caused by mutations in epigenetic genes.Crafting the brain - role of histone acetyltransferases in neural development and disease.Review of the Genetic Basis of Jaw Malformations.Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisIdentifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a FamilyNitric oxide and histone acetylation-shaping craniofacial development.Neural crest development and craniofacial morphogenesis is coordinated by nitric oxide and histone acetylationPathogenetics of the RASopathies.Determinants of orofacial clefting I: Effects of 5-Aza-2'-deoxycytidine on cellular processes and gene expression during development of the first branchial arch.ING5 activity in self-renewal of glioblastoma stem cells via calcium and follicle stimulating hormone pathways.Can unknown predisposition in familial breast cancer be family-specific?De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.The Kat in the HAT: The Histone Acetyl Transferase Kat6b (MYST4) Is Downregulated in Murine Macrophages in Response to LPS.Early alteration of epigenetic-related transcription in Huntington's disease mouse models.
P2860
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P2860
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Disruption of the histone acet ...... signaling in humans and mice.
@en
type
label
Disruption of the histone acet ...... signaling in humans and mice.
@en
prefLabel
Disruption of the histone acet ...... signaling in humans and mice.
@en
P2093
P2860
P50
P356
P1476
Disruption of the histone acet ...... signaling in humans and mice.
@en
P2093
Anita Rauch
Anne Kathrin Voss
Helmuth-Guenther Dörr
Ina Goehring
Ion Cristian Cirstea
Lavinia Gordon
Michael Kraft
Mohammad Reza Ahmadian
Tim Thomas
Udo Trautmann
P2860
P304
P356
10.1172/JCI43428
P407
P50
P577
2011-08-01T00:00:00Z