Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
about
An AUTS2-Polycomb complex activates gene expression in the CNS.Epigenetic Effect of Environmental Factors on Autism Spectrum DisordersCharacterizing autism spectrum disorders by key biochemical pathways.Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsThe Genetic Architecture of Murine Glutathione TransferasesOsteogenesis and neurogenesis: a robust link also for language evolutionPossible functional links among brain- and skull-related genes selected in modern humansHeterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory3Disease Browser: A Web server for integrating 3D genome and disease-associated chromosome rearrangement data.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairmentNeuronal Migration and AUTS2 Syndrome.Copy number variants are produced in response to low-dose ionizing radiation in cultured cells.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Tay bridge is a negative regulator of EGFR signalling and interacts with Erk and Mkp3 in the Drosophila melanogaster wing.Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationIdentification of cis-suppression of human disease mutations by comparative genomics.A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyDe novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.Molecular subtyping and improved treatment of neurodevelopmental disease.An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.The role of AUTS2 in neurodevelopment and human evolution.SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.Regulation of neuronal migration, an emerging topic in autism spectrum disorders.Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Histone H2A Monoubiquitination in Neurodevelopmental Disorders.A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.Late breaking chromosomes.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Identification of long non-coding RNAs involved in neuronal development and intellectual disability.NKL homeobox gene MSX1 acts like a tumor suppressor in NK-cell leukemia.
P2860
Q24310429-DDAD6AD9-245C-42A0-8E35-CC9D717B4999Q26748986-5B082352-FD1C-4D32-8BB2-AE19018F5BC2Q26781645-81A91BF5-0028-45A9-A7A9-379E4BF10EF7Q27301001-96087AE4-25CF-444D-91E6-D712AA1163F8Q27322815-E6659631-A7AC-4231-8DA6-D5F9635EA579Q28087577-852A0EC8-ADF0-4A6B-AB24-E7DF1C1F39EEQ28553004-735660DA-98C4-4D8B-8E60-DC8C6F260344Q28646188-C3DBA488-A0A3-44F7-BD55-65F91850A493Q28648399-C7A1FFA6-CAAC-474C-A94B-B89453DF4706Q30393988-5C921430-AA48-41C4-AD29-071ABD591F2EQ31136384-3FF64EC3-4102-4223-9612-601EB57433A8Q31149204-12F82F83-B660-4D2A-B489-E3D4D39E4FF6Q33601252-1F9FDA95-3313-4921-9056-1794ADCF1833Q33737231-6172CFAD-5811-4803-9BC5-E3376C097685Q33860918-065EA37C-B39C-4D05-86B2-243CF2B94645Q34336711-83FD4294-2833-4A05-B15E-8306FF5FEDCFQ34350428-4F804114-56A1-44D8-872E-5291A9B218FEQ34478056-A3A21F07-1528-4104-A689-4DDFA1B1204DQ35069205-31B0FC85-3D91-4E8E-8717-A4C2EA54B5CDQ35572513-30C792D4-31A8-49BD-A8DA-7C02613022EAQ35669713-B59A83EB-4709-4A58-BA18-085C02A1961BQ35956363-E483F5C5-C14C-47EC-9301-CD5137808517Q36060885-1C33234C-49EE-48BF-874D-BADF51947EB1Q36514637-D0B7A270-9C17-4EA8-8751-AE05F5432BC1Q36616304-CE33FF85-E2C9-4407-B51E-20468A10F270Q36950691-6AB45592-B0B9-4EA5-B417-F007FA95514FQ37057279-846290F5-D26D-42CB-9210-5E0EFB06950BQ37296558-4C4EE0F3-72F2-4049-BB71-92C0868A4C71Q37298164-3266AAF7-6C73-4D58-8494-1C8014EE43CAQ37708396-5437A769-7895-409C-B2F0-B71C190B03BDQ38216145-CDCD4DB1-D737-4BBC-9BF8-FF67F42C41B9Q38612196-9239E073-082F-4713-86EB-0234903D3803Q39074170-9C085C3D-1FA6-45A1-9DC0-EACFCDDA8613Q39127499-BE1632A6-2923-403F-9409-103898BAD174Q39409765-FC037B2A-99D0-48EB-BF41-C29883FCCBDAQ39853475-4BEE2B6D-0244-4A87-93E8-3B38C9146AC2Q41787075-3A01994D-463E-4B1C-9180-4210E0E26001Q41918222-96CBDC7F-AA5D-42C6-85DC-A905E4EFD74DQ42274361-3766A2F6-2FDD-4BBB-874D-15C9AFCD2E48Q42366512-600366D3-DA53-4052-A78E-2365BBB4F2C6
P2860
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
description
2013 nî lūn-bûn
@nan
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
2013年论文
@zh
2013年论文
@zh-cn
name
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@ast
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@en
type
label
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@ast
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@en
prefLabel
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@ast
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@en
P2093
P2860
P50
P1476
Exonic deletions in AUTS2 caus ...... itical role for the C terminus
@en
P2093
Aggie Nieuwint
Amelia M Lindgren
Anath C Lionel
Bai-lin Wu
Caroline Astbury
Christian R Marshall
Cynthia C Morton
Darren M Farber
Devon Lamb Thrush
Elizabeth Hopkins
P2860
P304
P356
10.1016/J.AJHG.2012.12.011
P407
P50
P577
2013-01-17T00:00:00Z