Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome - Wikidata - awgldk - TriplyDB

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

http://www.wikidata.org/entity/Q28236006

about

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease Neurodevelopment in schizophrenia: the role of the wnt pathways.Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating.Pitt-Hopkins Syndrome.Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.Personalized medicine in psychiatry: problems and promises.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation Synaptic Wnt signaling-a contributor to major psychiatric disorders?The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.Common variants at VRK2 and TCF4 conferring risk of schizophrenia.TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome.Impact of TCF4 on the genetics of schizophrenia.Development, cognition, and behaviour in Pitt-Hopkins syndrome.Advances in molecular genetics of Hirschsprung's disease.TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician.Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.Genetic disorders associated with postnatal microcephaly.Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neocortex.The genetics of the epilepsies.An adapted walking intervention for a child with Pitt Hopkins syndrome.Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.TCF4, schizophrenia, and Pitt-Hopkins Syndrome.The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner.Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.A case of Pitt-Hopkins syndrome with absence of hyperventilation.Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

P2860

Q24307947-6908EDD4-66DB-4618-965B-627F5D26A35F Q24315560-DD845C8C-FBD2-4494-BBC8-BAEE75B36A40 Q28073666-CEE8CEA2-5B18-4A43-B012-03AF5EFA9B63 Q28265767-5EB498B9-59CD-420B-A80A-747C93261DF4 Q30054095-0271746A-C7BE-4D94-B0CF-B4778B017F02 Q30442237-68382C91-8505-4B1F-84E5-42D74717DD3E Q30462441-655DABA7-FD69-42B8-9C37-2D6ED39AE8F6 Q30466814-594E2AA9-3662-451D-8F4B-F91BFA20C1A9 Q33971308-0FC12B35-403B-464D-B320-128351040A3C Q34726454-AABB0AE1-4B90-49A3-8954-0BE3C21D910F Q34994221-C97371A1-BE5D-4FAB-8877-6A31F78FDBA1 Q35234350-F2BA89B6-8D67-49F3-A1C5-735CEBFC71FF Q35549197-DF27176A-08CB-48CA-B8C7-569ECDD030E5 Q35816788-C1560FB8-A6F7-4B24-9EFC-76073E1D724E Q36001578-F33BAA8B-AE51-4959-95E5-4ED99C62CE05 Q36529240-CF609EE2-50B7-4A81-8DA7-07EA28AC6563 Q36777523-D5442126-B7D3-4B05-A665-B2A375727EC0 Q36793541-C405337F-9E50-47B7-A578-778544A5A2D0 Q36904000-B206B6A9-3A44-47A4-8626-6526D282BDFD Q37640025-70981938-EB73-419D-B36F-07D00AB34C62 Q37935632-5B14CD74-8291-409E-94DB-A6F1B9B469A0 Q38019987-82E0D060-E7F2-443E-87D4-79C9C86AFD23 Q38027815-9A779ABD-23DD-4561-9A0B-3F6B77FF4D67 Q38057999-E0CA050E-4852-44DE-8017-2324E251C8BE Q38103810-17343937-8C09-4B4B-9588-131361AF82FC Q38133941-E6BF4E21-230D-4C64-9978-2E380B653E94 Q38177652-00661CA7-C030-44A1-9D68-A52E20F3885D Q38212652-5447FAD1-F51E-4005-ACA2-70CD16CCBA42 Q38442346-44265E5D-C346-45C8-AAC9-C781547E1AD2 Q38501842-1B677547-E5F9-4347-BBA8-51FD3689FE73 Q38546200-958F5B82-01AD-4D08-ADA1-F07DADEC7A85 Q39230726-F863FCF2-A93C-4D6E-8747-207F0DD94375 Q39372163-B682485F-9313-4B13-ACD4-4A8D519A3AFE Q40849244-5A16602D-7C27-4C4D-A332-C7341FE6D9BE Q41059689-565C5CEB-10BA-4294-B598-A999635BD71B Q41934218-0EBF0991-0C86-49AD-8F96-63B6F21B931E Q43417853-27E5FFD0-CA99-493F-B33D-AEC2901A34E2 Q43551361-AD0F861D-A5BA-4D16-A426-AF045843A7E1 Q44670476-2C5F9B24-F987-4DD5-BCE1-12C329E562B9 Q45036364-D0281CFE-03E8-4B8C-B7AA-734720C98220

P2860

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

http://www.wikidata.org/entity/Q28236006

description

2009 nî lūn-bûn

@nan

2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@ast

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@en

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@nl

type

label

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@ast

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@en

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@nl

prefLabel

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@ast

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@en

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@nl

P1433

Q28236006-9918D2B1-B061-412E-BB0E-3BE96BBD92B7

P1476

Q28236006-65E80189-C8D4-453F-BDDB-626242AF2590

P2093

Q28236006-06FB5C87-9478-4D54-9281-CC5735306232

Q28236006-0E98F8CB-B062-4A25-BBEF-1A828EDA34F6

Q28236006-2A33BC6A-47B3-440B-9E52-8D3178C470F7

Q28236006-32B5AA0C-8429-40BA-BBB8-C46A5AB9AFA3

Q28236006-4ACB259D-C983-4E86-8F65-C0465052D2A6

Q28236006-4DBC527D-1C94-416C-8F6D-36DA025AE306

Q28236006-769EBDC5-7E0C-4F03-A9A8-74B56A151B12

Q28236006-8309BFCC-EBE6-436C-BF24-7AF35DDB5F4D

Q28236006-87A12393-27B7-43E4-BFF2-6266EBBC1879

Q28236006-ACC68307-B137-4B35-9B27-3A506B3EB1EF

P2860

Q28236006-69C8FC38-EC4E-4B11-965A-A7453FF5AF39

Q28236006-ABBFC2CD-44CD-4363-B06D-1679113310D1

Q28236006-B5C68CB4-D71E-4102-B1B5-4BE44EBDE15E

P304

Q28236006-77F3AF0F-DCAE-40FE-819D-6356820D8500

P31

Q28236006-39118EE9-6547-4F83-8D40-1056BF6741F4

P3181

Q28236006-BB6533A5-CA9A-427B-ACBC-FD1484422AE8

P356

Q28236006-D9C19B4A-D275-412F-AB65-7C6209809E07

P407

Q28236006-B2E453FF-A925-482D-ACE0-BEAA47F7789D

P433

Q28236006-E1A77597-733B-40E8-8525-93EFE51AA48E

P478

Q28236006-9E87F58D-B2CE-4F11-873F-3E1804D2B4BC

P50

Q28236006-4D46533A-085D-4D5A-A04E-8F872E519298

Q28236006-5535185B-3361-40BD-A837-41F164654E4E

Q28236006-55E68A53-3D39-4506-AAD3-1A6DDD861140

Q28236006-5FDD15FF-1EFB-460F-AC9E-44BA0A60C80A

Q28236006-884A6F17-3F30-4812-899D-4A18A9C0664E

Q28236006-8C1D4B00-8431-4345-A87D-E470500C6ED6

Q28236006-942D3102-11D7-448E-AB84-B0C8E36E02C7

Q28236006-9C775AB7-98CB-46D4-A5D7-32B8C7795A1E

Q28236006-B68EAEA8-3D50-46BE-A511-4C6A5294D276

Q28236006-C676A042-4050-4371-883F-A418FAC63117

P577

Q28236006-E60AD663-FE0C-48C9-84B6-577541ABA34E

P5875

Q28236006-FE27DA44-3EF7-4686-BEDD-2816549856A2

P698

Q28236006-EDCD2434-3C54-4BE0-A0F3-1901C7AC9611

P3181

P356

P1433

P1476

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

@en

P2093

Angus Dobbie

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

Bertrand Isidor

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

Christine Soufflet

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

Delphine Heron

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

Francis Jaubert

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

Géraldine Viot

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

Jacques Motte

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

Laurent Pasquier

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

Loïc de Pontual

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

Marc Tardieu

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

P2860

B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

E2A and E2-2 are subunits of B-cell-specific E2-box DNA-binding proteins.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

P304

669-76

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

P31

scholarly article

P3181

1635365

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

P356

10.1002/HUMU.20935

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

P407

P433

4

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

P478

30

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

P50

Nathalie Boddaert

Capucine Picard

Christelle Golzio

Heather Etchevers

Laurence Colleaux

Stanislas Lyonnet

P577

2009-04-01T00:00:00Z

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

P5875

24033007

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

P698

19235238

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