KDM6A point mutations cause Kabuki syndrome - Test2 - elhamkhani - TriplyDB

KDM6A point mutations cause Kabuki syndrome

KDM6A point mutations cause Kabuki syndrome

http://www.wikidata.org/entity/Q28277325

about

Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders Kabuki syndrome: clinical and molecular characteristics Congenital heart disease: emerging themes linking genetics and development Deletion of JMJD2B in neurons leads to defective spine maturation, hyperactive behavior and memory deficits in mouse De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome Female bias in Rhox6 and 9 regulation by the histone demethylase KDM6A Autoimmune haematological disorders in two Italian children with Kabuki syndrome Epigenetic control of the immune system: a lesson from Kabuki syndrome.Identification of sexually dimorphic genes in the neonatal mouse cortex and hippocampus The H3K27me3 demethylase UTX in normal development and disease.De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.X chromosome regulation: diverse patterns in development, tissues and disease.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.X-chromosome inactivation and escape.An essential role for UTX in resolution and activation of bivalent promoters.Widespread DNA hypomethylation and differential gene expression in Turner syndrome.Genomics of lymphoid malignancies reveal major activation pathways in lymphocytes.Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.Histone-modifying enzymes: their role in the pathogenesis of acute leukemia and their therapeutic potential.Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).Examining the impact of gene variants on histone lysine methylation Kabuki syndrome: clinical and molecular diagnosis in the first year of life.Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.GATA-dependent transcriptional and epigenetic control of cardiac lineage specification and differentiation.Genetic studies in intellectual disability and related disorders.Zebrafish models of orofacial clefts.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology A systematic review of genetic syndromes with obesity.The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice.Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

P2860

Q26740071-FFE4D3B8-4DC8-43BA-AD72-B277897AD8BD Q26778099-F86D1EB9-D6AA-48CC-8CE5-000CDC513A39 Q26859219-EF765964-ADF5-4C54-A506-44BAD4DD57D6 Q27339100-741A46BE-8889-4985-B773-5DA9FDA2C06F Q28240330-8F4A6332-EDC7-4CDC-B7A5-F01BE6493CCD Q28506132-2A126306-CF37-4981-9DF1-D9D738A03AA9 Q33412879-D03CCA72-0330-4242-9E97-5B571059669B Q33426259-A9943E64-73C3-4A25-A753-A6CDB783A2F5 Q33758560-C060C45D-4EC6-441A-B801-4C6B3A722877 Q33779153-D9325E35-0263-4CF7-AB2D-D0E0ACCA5D0F Q33812098-0EE3BE15-1D49-4F78-BEA5-1E7097AAAE37 Q33982880-D74FCB34-64A6-4189-A892-4D1BFE488144 Q34522233-FC02466A-17FE-4BB6-8408-7A5FEA304165 Q35086393-91900EAB-AE25-4FB0-AF9E-E6B827F2B029 Q35140239-60C20501-20FC-4A1D-9908-4FF267F109FA Q35524938-4BDFDB86-1B64-4D6F-8EA2-250431A5C5BA Q35821188-B1C711DD-D5D6-47B7-8A0E-B08626277A7C Q36106023-B95FD542-9DEE-4268-9363-F78DBA7B4AF5 Q36770275-ACF22ECC-D963-4039-8090-6C3B4D2D3098 Q36782721-850EFE4C-6701-4434-AADE-4C404B905A61 Q36870477-B7FF18D8-7C1C-44AD-A42D-68CFB457CEE1 Q37298582-15F43B24-C2C2-4D27-A763-2740B665489B Q37339132-74AB3BB2-1DDD-42A5-92F9-A40CA33E8495 Q37345141-49EA9CFC-BC57-4E80-A945-7CE3C1365D47 Q37577206-262C3CCE-7989-4D6A-81DA-7438D3C218C6 Q38071556-2EE720F7-02A3-4177-8F21-498CBEF58A4F Q38188009-54484C65-8018-4DB9-99A1-D1C2028CE92D Q38214535-F26B08ED-D44F-4E8E-8F17-A6EE675D17B5 Q38256639-C6D4859E-0ADC-48AD-B50C-6001EA42369F Q38437571-B1F9E0F3-DCDB-4B21-ABAA-EBA73E737D75 Q38439221-21DFE984-9275-41F3-BCDB-8F140441F972 Q38540891-E326FC60-58FE-4570-9344-E07CF1277F8D Q38616789-1B7B368A-B5FE-4084-AD6E-AB6CECC67283 Q38631050-F044E078-77E4-48D3-A0E8-21B1756675C4 Q38794125-483EE0FF-A59F-4FFE-AC5E-64E81603AE21 Q38835229-C056A92A-E90B-4129-976F-9B4C5C0F46B1 Q38883296-5E935E12-1226-45AB-8253-5FE18384C26B Q39202448-69D9404B-1BB1-45E9-9643-49F748CA0836 Q41840374-4FB7BB14-DB2F-4612-9B82-4BB79F0DE0CA Q42938206-93C7ADE7-7202-480E-A1BD-3F232312D44D

P2860

KDM6A point mutations cause Kabuki syndrome

http://www.wikidata.org/entity/Q28277325

description

2013 nî lūn-bûn

@nan

2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

KDM6A point mutations cause Kabuki syndrome

@ast

KDM6A point mutations cause Kabuki syndrome

@en

KDM6A point mutations cause Kabuki syndrome

@nl

type

label

KDM6A point mutations cause Kabuki syndrome

@ast

KDM6A point mutations cause Kabuki syndrome

@en

KDM6A point mutations cause Kabuki syndrome

@nl

prefLabel

KDM6A point mutations cause Kabuki syndrome

@ast

KDM6A point mutations cause Kabuki syndrome

@en

KDM6A point mutations cause Kabuki syndrome

@nl

P1433

Q28277325-581D5111-B087-4578-BBD0-4161FB4E3A2C

P1476

Q28277325-1EBA9A69-AFFE-44A7-87B0-DE22C97DF78F

P2093

Q28277325-58F49916-0241-4B96-AF8C-377702B705B3

Q28277325-5D35A00C-A8B9-4A4F-87DD-F0A667E27050

Q28277325-79E54753-E7DF-4370-98B7-A8122EC567C6

Q28277325-7B6448CE-30A2-4B1C-ADB3-DE3106FA29BB

Q28277325-817D9A83-02DB-4911-9769-00D6DA8037CD

Q28277325-9C2A9C35-0D42-4A74-894F-5669EE7D975B

Q28277325-CA895519-9B9B-4577-853A-163ABDBA3E75

Q28277325-DF0F36FD-EDE0-4465-ABF7-D9BADCBEA05E

Q28277325-F5862AFD-D378-48D6-B67F-876CDC0EDF04

P2860

Q28277325-225044CD-4BA3-420D-BFF7-1CE73DC46C89

Q28277325-2AB5981F-CF63-4883-B596-6E775542568C

Q28277325-46A8F818-CAF9-42D6-9AEC-D0D139FEBD59

Q28277325-92C71AE8-5968-448E-B281-39021E836137

Q28277325-9470ABE3-8ADF-4D8E-91C1-2C14C1940D33

Q28277325-AEF186AE-1955-4BA3-BECC-1E3E3AC5EBD1

Q28277325-AFA07A49-F8CD-466B-B184-CA537EC36DFA

Q28277325-B9518610-5126-40D4-B9F4-FA5B067719EE

Q28277325-BF13EE65-08A3-4C0F-A898-5AFAB5240FAA

Q28277325-C6202460-7324-424C-A783-8B0E4832ABB5

P304

Q28277325-41AA3AE6-D479-456D-A6A2-FF1A8CFFF6EC

P31

Q28277325-DC96B308-6DC7-4176-9A9E-897FE984DBAD

P3181

Q28277325-2D4E6C52-D4A7-43C0-A384-BE2EA842CB7E

P356

Q28277325-CEACEA11-1C12-42B8-AA0A-71C83FAECF0C

P407

Q28277325-7989038F-6FA1-413A-9A4B-4543E92219EA

P433

Q28277325-C86AAB93-044B-43F4-A0EC-BB142E62E2E2

P478

Q28277325-C6AE29D5-195C-4B46-AD6E-CDCBE766CAC3

P50

Q28277325-66754B10-FB60-46B6-812C-E54BD69CE063

Q28277325-F5845B1E-CFD9-4CBE-8AA2-1463254FAC30

P577

Q28277325-F38BD10F-8432-4446-A72A-4EA8821EE752

P698

Q28277325-B844C659-D91D-4F22-A5E0-981B68215E5F

P3181

P356

P1433

P1476

KDM6A point mutations cause Kabuki syndrome

@en

P2093

Hirofumi Ohashi

http://www.w3.org/2001/XMLSchema#string

Kazuhiro Ogata

http://www.w3.org/2001/XMLSchema#string

Masaaki Shiina

http://www.w3.org/2001/XMLSchema#string

Mitsuko Nakashima

http://www.w3.org/2001/XMLSchema#string

Naomichi Matsumoto

http://www.w3.org/2001/XMLSchema#string

Nobuhiko Okamoto

http://www.w3.org/2001/XMLSchema#string

Noriko Miyake

http://www.w3.org/2001/XMLSchema#string

Norio Niikawa

http://www.w3.org/2001/XMLSchema#string

Seiji Mizuno

http://www.w3.org/2001/XMLSchema#string

P2860

Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

Three patients with ring (X) chromosomes and a severe phenotype.

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

The UTX gene escapes X inactivation in mice and humans.

Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Kabuki make-up syndrome: a review.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

P304

108-10

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

3253173

http://www.w3.org/2001/XMLSchema#string

P356

10.1002/HUMU.22229

http://www.w3.org/2001/XMLSchema#string

P407

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

34

http://www.w3.org/2001/XMLSchema#string

P50

Yoshinori Tsurusaki

Hirotomo Saitsu

P577

2013-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

23076834

http://www.w3.org/2001/XMLSchema#string