Distinct phenotypes distinguish the molecular classes of Angelman syndrome - Wikidata - awgldk - TriplyDB

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

http://www.wikidata.org/entity/Q35436435

about

Pathophysiological power of improper tonic GABA(A) conductances in mature and immature models.Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans Angelman syndrome: a review of the clinical and genetic aspects Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Psychosis and autism as diametrical disorders of the social brain Genome-wide and parental allele-specific analysis of CTCF and cohesin DNA binding in mouse brain reveals a tissue-specific binding pattern and an association with imprinted differentially methylated regions Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Clinical review of genetic epileptic encephalopathies Genetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome.Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.[Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?].Gender influences monoallelic expression of ATP10A in human brain Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model Aberrant expression of genes necessary for neuronal development and Notch signaling in an epileptic mind bomb zebrafish.Neuroepigenomics: Resources, Obstacles, and Opportunities.Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples.Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.Noncoding RNAs in mental retardation Epilepsy in Korean patients with Angelman syndrome Molecular and Clinical Aspects of Angelman Syndrome.Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors Understanding the pathogenesis of Angelman syndrome through animal models From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.Neurodevelopmental Underpinnings of Angelman Syndrome.Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice

P2860

Q21129461-FD139207-E404-4DB9-A0AD-DD02487A8F98 Q24532789-78A11465-47A1-4A49-91BE-4C038D6C5424 Q24594307-068A2599-EADD-4938-A5C4-6554A1F6D168 Q24594577-CFA14B9E-4429-4DB0-8202-A9C059812FC2 Q24612484-F197CFEF-B422-47CB-B6EA-36674B5606CE Q24670569-0C17C3AE-5A2F-4AE6-BB8C-F6D1D70F4A49 Q24678174-170C00CA-2517-42CF-8928-61F4066D5E07 Q27003875-15F68323-2513-47CB-A858-79D17349FE02 Q27321157-BFA8F7F5-0D57-4423-B7D8-F3E99AF4681E Q28285118-E9D242E5-C28F-4757-83EA-2B73F67E9C76 Q28586104-DAAAB562-783F-4BB2-8990-99E17607A382 Q30252074-26ACA732-10D5-45B4-8529-8E2887E25E76 Q30537230-8CEA6BDD-F0FE-4742-88EB-7BEB83EAAE0E Q30543819-9CCE0A2F-766B-4DD1-BF93-AC332974FC61 Q30847511-64170A8E-B29E-4284-B368-43ADA6DCF62A Q33560765-4EF0CFB9-3EF0-455D-B9B3-26EB4C3697ED Q33697249-B1ABB108-1A9C-403C-9DB1-A7423A4EE662 Q33864044-FD65A5E3-1BFB-40B4-B4BE-9A4067B35EBB Q34070860-2C827997-89BB-4878-85B6-5CF6BE4FE9A8 Q34140440-82830BD7-D9D9-4789-BDD9-BDD24D2FCF28 Q34329756-4EFDE555-5BDA-4E32-B333-0249B448928F Q34383677-938EBB11-37BF-4305-8FAA-E28164E010DA Q34519034-1B7B8B2C-9FB8-4165-B830-EF376E98CEC2 Q35079892-EDB68C8E-4D6B-4D85-A165-755350BAA93D Q35109256-7BD2385E-DC0E-417F-82F4-9C5C013DCE87 Q35110560-8E6F1896-3CEE-4DEB-A3EF-2EFB6AB91155 Q35356399-563C6914-B1F8-453E-A179-4D5D7ED95049 Q35448168-AFA2C9B2-3E8D-468C-A71F-6ED80E8D6EBE Q35493127-38970AC6-AA2F-460F-8531-0E7541D5D4B3 Q35724788-94D3CC17-FA98-4A1A-8BE6-E9EEA34C6A28 Q35996254-BCDA0EBD-11DA-4A19-B3D9-61C40497DC05 Q36006585-FEFBE99E-FFF2-4AF8-8581-01A449509BED Q36010566-3F692375-2239-4614-A2B1-254B96C6D866 Q36101992-E9AE6CEB-CDED-4D1C-9393-3E767862373C Q36132290-67B0F4D4-3A21-4DA4-817A-3F8F5F2DF8ED Q36175249-00B4A45E-996F-4030-8C4B-60A37C0312F7 Q36216082-97BFADC0-CCD2-4539-B82F-47A8632A4088 Q36301671-CFCE311F-C224-4E8C-BD07-2DD142155DBF Q36353107-ED7BEF48-B487-4CD2-BDEF-04E9CE648C7A Q36380931-8AAFB617-02F5-4F7E-9652-3118FD1CBE04

P2860

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

http://www.wikidata.org/entity/Q35436435

description

2001 nî lūn-bûn

@nan

2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@ast

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@en

type

label

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@ast

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@en

prefLabel

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@ast

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@en

P1433

Q35436435-19EC9264-D1CB-436E-BDBF-D2047D728A35

P1476

Q35436435-BB21D27C-D1BA-4621-81AB-9067778B4D7B

P2093

Q35436435-2D52E077-178D-4E27-8265-1C0BE52BC9DD

Q35436435-43C306AD-DC1D-40FA-98D8-82110991A735

Q35436435-4614629F-2165-4F2B-B7E7-F3690A91901E

Q35436435-5CAEDA50-3B9F-4594-BDF9-0A23D7AE4032

Q35436435-7C7351D2-23D6-4FC8-84F0-ABCFBDF72169

Q35436435-7DA8E7D8-4EAC-42D0-A2A2-39E7154A86F0

Q35436435-91DCD1A1-D962-4485-B482-33506995C358

Q35436435-B71DC234-0DA3-447E-A6F7-91B228137033

Q35436435-CD32A514-F672-443D-986E-4CDECF04D7AC

Q35436435-CED07CD9-0CFF-4B91-9784-D936A7C6520F

P2860

Q35436435-08976429-21FD-449F-A4A6-EF065E6F808F

Q35436435-0B64179C-158C-4A7A-8916-6D352AC660A7

Q35436435-110F57A6-ABAA-4D95-A00B-A869396E8D65

Q35436435-14C910ED-3972-418C-A8A9-BD4B29B66412

Q35436435-1890DB53-C99D-4E37-B1ED-6F7C35CF5C71

Q35436435-19E35904-5F60-4E23-A6C0-711439FC69B6

Q35436435-256403E2-FD22-4382-A86A-2A3A6494E6F3

Q35436435-25A31C17-8F5B-4C2C-9675-524D6FF1AC5D

Q35436435-25CDFA11-1B79-4132-AFD9-DD0C56282C63

Q35436435-27706B80-4945-4403-B3E2-28AE042EE77F

P304

Q35436435-92AF9F21-03D1-4638-A8EE-A147E50FEB29

P31

Q35436435-8AEE9154-5E83-4DCB-BC7F-361B8F118E6B

P356

Q35436435-1BEA6CD3-CACC-4DC4-AEC9-B99D4CAC04F1

P407

Q35436435-C5A79EFF-B758-46F7-A84D-0662B7D7D6B2

P433

Q35436435-639E3ECB-70D5-4C27-9B4E-005E24A3B13E

P478

Q35436435-590F86DF-D5B6-4307-8A60-0AD2B709C4C4

P577

Q35436435-25AB2D5A-FC3F-4677-A508-5DCF86DB8DDC

P5875

Q35436435-7B7C1D7F-13AF-4AFC-AFD6-BD0CB4A57657

P698

Q35436435-680BC6BE-0603-460F-8A0B-34AC1D715495

P932

Q35436435-9D3B9756-65D6-4E11-9931-CFF541104636

P356

P1433

Journal of Medical Genetics

P1476

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

@en

P2093

A C Lossie

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

A Hutson

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

C A Williams

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

D Amidon

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

D J Driscoll

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

D Theriaque

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

H J Dong

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

M M Whitney

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

P Chen

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

R D Nicholls

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

P2860

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

An imprinted, mammalian bicistronic transcript encodes two independent proteins

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression

UBE3A/E6-AP mutations cause Angelman syndrome

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Transmission of Angelman syndrome by an affected mother

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

P304

834-845

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

P31

scholarly article

P356

10.1136/JMG.38.12.834

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

P407

P433

12

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

P478

38

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

P577

2001-12-01T00:00:00Z

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

P5875

277447541

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

P698

11748306

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

P932

1734773

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