Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. - Wikidata - awgldk - TriplyDB

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

http://www.wikidata.org/entity/Q34236650

about

Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders Two-phase and family-based designs for next-generation sequencing studies Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function Using whole-exome sequencing to identify inherited causes of autism.DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics.Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.MiR-2425-5p targets RAD9A and MYOG to regulate the proliferation and differentiation of bovine skeletal muscle-derived satellite cells Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder Brain transcriptional and epigenetic associations with autism.Alkylation sensitivity screens reveal a conserved cross-species functionome.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis Genomics in neurological disorders.No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism.A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.Salivary miRNA profiles identify children with autism spectrum disorder, correlate with adaptive behavior, and implicate ASD candidate genes involved in neurodevelopment.Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees'Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.Intellectual disability is associated with increased runs of homozygosity in simplex autism Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Genetic influences on alcohol use across stages of development: GABRA2 and longitudinal trajectories of drunkenness from adolescence to young adulthood.Power and Autistic Traits.The role of AUTS2 in neurodevelopment and human evolution.

P2860

Q26744368-B08AAF52-F602-443C-A901-5A297742337E Q26779153-5662ECF2-7EA9-4DF8-A8AB-D0F4F400BB2C Q26828744-B962CE38-D917-4E2E-8886-B0819D924CE6 Q27325479-1544E711-B397-4E27-ACA3-0B531744A208 Q28087577-65931232-E3C4-4994-9B08-5DC94C99ECCD Q28115497-5E8D7D97-D988-4CB1-8FD9-86AC65154824 Q30418126-EE99BE9D-9227-450B-9DD3-C81E8EAFF546 Q33592044-B7A84A9C-5148-4549-8EDE-2ABE6A68B587 Q33600262-F610A3FE-B318-45A8-BEF7-C91DA5DB31FF Q33671786-D3C7C5A2-CB4E-4D01-927A-7066F6AD98DE Q33783876-E334A761-C638-4A45-BD4E-842E49EE861C Q33790438-9F1FC8DD-6579-4444-AE46-3783E5386279 Q33840498-C52EF755-69DC-4FF9-9E31-29F76D6807C4 Q33925250-03C14A27-1192-412F-9F92-C05D55154B5A Q34416063-CABC2116-C3D9-464D-9D71-D54FAA473478 Q34434871-BA47C5C9-540E-49A5-A27A-7E9C09B69262 Q34586198-6F4A7FE7-924D-426B-8B1E-2818EC695DC1 Q34631519-C4F4C994-032C-45D4-9C90-E0F24F7B960F Q34672061-29260E63-A5B8-47AF-91E2-3E1E2CA065AB Q34961828-D973F2E5-804B-4389-9021-CFEF3302A740 Q35064189-6C0BE3A0-D2D0-4695-9423-F70737BC78D0 Q35543494-83BEBF13-52FF-48D2-A5BB-E1ECCF15476F Q35549243-D402AE0C-9EF0-4326-A484-4FCAC1D5D7AE Q35595321-2AE6D871-DDF2-40F0-9C9B-D51DE54BCEED Q35686555-0FDBABE9-A5CE-4327-B2BA-6AE7EB7FC4C5 Q35694641-BC33ED2A-6267-45CF-B504-6A193BAFB88C Q35880735-28CEF806-4452-403D-BB58-CE8AB75018C4 Q35927955-FFFEB4BE-8AE4-46A0-A692-7B6E58B57407 Q35997185-5333623B-6E5C-4076-9904-A5E198181653 Q36083196-94D7453D-BB86-4E57-83AE-D4588E435AAB Q36451459-4D6CB438-510A-412A-A741-2C85C7E83E4F Q36671121-FD08D6B1-04D3-4265-BA10-707AF8F665BC Q36733238-99116C4E-E8DD-4AC9-A776-ABC59C4806E5 Q36799924-E77EB484-62C4-4580-BF29-FC44D19C59DF Q36915542-B6587CAA-DFAF-438D-A53F-AAFA6A4F7AB4 Q37010426-DB93B99D-90F8-4CEC-B379-B9285EA64600 Q37083418-082FF6E5-F26B-4669-914D-51C73A771381 Q37198784-9960C6B1-D30C-4249-922E-23CBABF727EB Q37219831-C301E753-64CB-47A9-9D81-9C2DB77A6CEF Q37296558-D5711246-9D08-45D2-8946-DEEECED2DCF0

P2860

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

http://www.wikidata.org/entity/Q34236650

description

2012 nî lūn-bûn

@nan

2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

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

name

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@ast

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@en

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@nl

type

label

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@ast

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@en

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@nl

prefLabel

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@ast

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@en

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@nl

P1433

Q34236650-301E554C-F9DE-47F3-AA12-AB129BB9C9CB

P1476

Q34236650-DF9329BA-6E3C-4CB5-89C0-9BDF35F562CB

P2093

Q34236650-0050F068-802A-458A-9787-2AE0CE45178D

Q34236650-484E2C25-E695-424E-BC2B-CC50CBD98F9F

Q34236650-5FD1C6F6-7EAA-47CF-95E4-4072B17990D8

Q34236650-7404C094-8B08-46F3-B108-8A82E1D97E9A

Q34236650-74732DED-F099-4E81-9371-DC2CBB401A3E

Q34236650-873DD6A1-2774-40CA-8AAC-D0A8D13A53BD

Q34236650-9EEB76DC-1DB1-40BB-BB50-0D9884B54BE0

Q34236650-F3066A7A-7833-42E9-8696-7C9D5540A006

P2860

Q34236650-062463A3-CF45-4BCD-B074-9ED58704BDA7

Q34236650-13B80E3A-61F1-4352-A2CD-2CCCB4116FAC

Q34236650-16BBA246-590B-4A19-9DD2-771CF314DAA6

Q34236650-2304C4B1-5FEE-4386-9756-088B8C59F0BF

Q34236650-24896652-6E3F-49B1-88B2-402BBFF0BE1E

Q34236650-26D8A143-F3E7-4527-98DC-03C4A29A6C58

Q34236650-290B99E1-8144-41B7-8CDD-0C1053E4F1E4

Q34236650-322B1D3B-4856-4344-B489-7F7FC8C5C358

Q34236650-341939B1-83D7-41D5-9E2F-9AB769E1A6DB

Q34236650-3485C2BA-0E70-4E8C-B676-F47A173D1C33

P304

Q34236650-9BF43039-BE1D-4AF9-A4A7-8F42B3CB6FD2

P31

Q34236650-AAFD2A7C-52D0-45C1-8BD2-35AFCCED3E12

P356

Q34236650-F5319711-2EE5-4701-B96E-F93F1175E093

P433

Q34236650-40931269-331E-4826-BC82-DC7C8799FD82

P478

Q34236650-A3507939-FC49-4451-BB86-9BB7434D076D

P50

Q34236650-21123FED-53F1-45EF-B13A-219FA48273B4

Q34236650-3B408679-1060-4A37-88D4-09EE398FE14A

Q34236650-8A19EBC6-BE50-4A94-A7ED-E2786FC2965E

Q34236650-A3015C63-5417-44AA-9996-C708D91D891D

P577

Q34236650-256AF9D6-7FC5-4B0C-845A-F5399F47BF6E

P5875

Q34236650-62DAA4CE-A824-485C-B05E-9D43A7CC1DAD

P698

Q34236650-C01C1903-306A-4002-BF49-7070BBC27E13

P921

Q34236650-0307D9EA-F245-4F0C-8A24-712F3C5CBA10

P932

Q34236650-3542C876-8B70-4490-83B2-5FE986CD0CCC

P356

JOURNAL.PGEN.1002635

P1433

P1476

Whole-exome sequencing and hom ...... ated neuronal genes in autism.

@en

P2093

ARRA Autism Sequencing Collaboration

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

Bulent Ataman

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

Christian R Schubert

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

Christine R Stevens

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

Christopher A Walsh

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

Michael E Coulter

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

Michael E Greenberg

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

R Sean Hill

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

P2860

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Advances in autism

Autism and brain development

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

Exome sequencing identifies the cause of a mendelian disorder

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system

Identifying autism loci and genes by tracing recent shared ancestry

P304

e1002635

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

P31

scholarly article

P356

10.1371/JOURNAL.PGEN.1002635

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

P433

4

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

P478

8

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

P50

Maria H Chahrour

P577

2012-04-12T00:00:00Z

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

P5875

224285175

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

P698

22511880

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

P921

P932

3325173

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