De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
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Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseUltra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationEpigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.De novo mutations in MLL cause Wiedemann-Steiner syndrome.Expression atlas of the multivalent epigenetic regulator Brpf1 and its requirement for survival of mouse embryos.The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsThe promise of whole-exome sequencing in medical genetics.Deficiency 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 spectrumDominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayMOF maintains transcriptional programs regulating cellular stress response.Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseBRPF1 is essential for development of fetal hematopoietic stem cellsCrosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Genetic syndromes caused by mutations in epigenetic genes.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Crafting the brain - role of histone acetyltransferases in neural development and disease.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a FamilyFeatures of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.ING5 activity in self-renewal of glioblastoma stem cells via calcium and follicle stimulating hormone pathways.De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.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.Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.Genitopatellar syndrome: the first reported case in Japan.The Kat in the HAT: The Histone Acetyl Transferase Kat6b (MYST4) Is Downregulated in Murine Macrophages in Response to LPS.An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
P2860
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P2860
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@ast
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@en
type
label
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@ast
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@en
prefLabel
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@ast
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@en
P2093
P2860
P50
P1476
De novo mutations of the gene ...... cause Genitopatellar syndrome.
@en
P2093
Charu Deshpande
Ernie M H F Bongers
Han G Brunner
Lies H Hoefsloot
Ronny Derks
Ruthy Cohen-Snuijf
Sarina G Kant
Susan E Holder
Susan M White
Wesley J Woollard
P2860
P304
P356
10.1016/J.AJHG.2011.11.024
P407
P577
2012-01-19T00:00:00Z