287 related articles for article (PubMed ID: 33414364)
1. Transcription factor 4 and its association with psychiatric disorders.
Teixeira JR; Szeto RA; Carvalho VMA; Muotri AR; Papes F
Transl Psychiatry; 2021 Jan; 11(1):19. PubMed ID: 33414364
[TBL] [Abstract][Full Text] [Related]
2. Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.
Sirp A; Roots K; Nurm K; Tuvikene J; Sepp M; Timmusk T
J Biol Chem; 2021 Dec; 297(6):101381. PubMed ID: 34748727
[TBL] [Abstract][Full Text] [Related]
3. Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome.
Chen HY; Bohlen JF; Maher BJ
Dev Neurosci; 2021; 43(3-4):159-167. PubMed ID: 34134113
[TBL] [Abstract][Full Text] [Related]
4. The emerging roles of TCF4 in disease and development.
Forrest MP; Hill MJ; Quantock AJ; Martin-Rendon E; Blake DJ
Trends Mol Med; 2014 Jun; 20(6):322-31. PubMed ID: 24594265
[TBL] [Abstract][Full Text] [Related]
5. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V; Pusey BN; Cherukuri PF; Atkins P; du Souich C; Rupps R; Limbos M; Adams DR; Bhatt SS; Eydoux P; Links AE; Lehman A; Malicdan MC; Mason CE; Morimoto M; Mullikin JC; Sear A; Van Karnebeek C; Stankiewicz P; Gahl WA; Toro C; Boerkoel CF
Orphanet J Rare Dis; 2016 May; 11(1):62. PubMed ID: 27179618
[TBL] [Abstract][Full Text] [Related]
6. Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
Sweatt JD
Exp Mol Med; 2013 May; 45(5):e21. PubMed ID: 23640545
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Rosenfeld JA; Leppig K; Ballif BC; Thiese H; Erdie-Lalena C; Bawle E; Sastry S; Spence JE; Bandholz A; Surti U; Zonana J; Keller K; Meschino W; Bejjani BA; Torchia BS; Shaffer LG
Genet Med; 2009 Nov; 11(11):797-805. PubMed ID: 19938247
[TBL] [Abstract][Full Text] [Related]
8. A case of Pitt-Hopkins syndrome with absence of hyperventilation.
Inati A; Abbas HA; Korjian S; Daaboul Y; Harajeily M; Saab R
J Child Neurol; 2013 Dec; 28(12):1698-701. PubMed ID: 23248353
[TBL] [Abstract][Full Text] [Related]
9. Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M; Pruunsild P; Timmusk T
Hum Mol Genet; 2012 Jul; 21(13):2873-88. PubMed ID: 22460224
[TBL] [Abstract][Full Text] [Related]
10. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
Kharbanda M; Kannike K; Lampe A; Berg J; Timmusk T; Sepp M
Eur J Med Genet; 2016 Jun; 59(6-7):310-4. PubMed ID: 27132474
[TBL] [Abstract][Full Text] [Related]
11. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Bedeschi MF; Marangi G; Calvello MR; Ricciardi S; Leone FPC; Baccarin M; Guerneri S; Orteschi D; Murdolo M; Lattante S; Frangella S; Keena B; Harr MH; Zackai E; Zollino M
Eur J Med Genet; 2017 Nov; 60(11):565-571. PubMed ID: 28807867
[TBL] [Abstract][Full Text] [Related]
12. A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Aldeeri AA; Abu-El-Haija A
Am J Med Genet A; 2023 Apr; 191(4):1070-1076. PubMed ID: 36574749
[TBL] [Abstract][Full Text] [Related]
13. TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
Blake DJ; Forrest M; Chapman RM; Tinsley CL; O'Donovan MC; Owen MJ
Schizophr Bull; 2010 May; 36(3):443-7. PubMed ID: 20421335
[TBL] [Abstract][Full Text] [Related]
14. The basic helix-loop-helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation.
Schoof M; Hellwig M; Harrison L; Holdhof D; Lauffer MC; Niesen J; Virdi S; Indenbirken D; Schüller U
Eur J Neurosci; 2020 Jun; 51(11):2219-2235. PubMed ID: 31919899
[TBL] [Abstract][Full Text] [Related]
15. Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Masson J; Pons L; Busa T; Missirian C; Lines M; Tevissen H; Diguet F; Rollat-Farnier PA; Lesca G; Sanlaville D; Schluth-Bolard C
Eur J Med Genet; 2022 Apr; 65(4):104458. PubMed ID: 35189377
[TBL] [Abstract][Full Text] [Related]
16. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Forrest M; Chapman RM; Doyle AM; Tinsley CL; Waite A; Blake DJ
Hum Mutat; 2012 Dec; 33(12):1676-86. PubMed ID: 22777675
[TBL] [Abstract][Full Text] [Related]
17. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S; Héron D; Gaillon T; Moldovan O; Rossi M; Devillard F; Giuliano F; Soares G; Mathieu-Dramard M; Afenjar A; Charles P; Mignot C; Burglen L; Van Maldergem L; Piard J; Aftimos S; Mancini G; Dias P; Philip N; Goldenberg A; Le Merrer M; Rio M; Josifova D; Van Hagen JM; Lacombe D; Edery P; Dupuis-Girod S; Putoux A; Sanlaville D; Fischer R; Drévillon L; Briand-Suleau A; Metay C; Goossens M; Amiel J; Jacquette A; Giurgea I
Hum Mutat; 2012 Jan; 33(1):64-72. PubMed ID: 22045651
[TBL] [Abstract][Full Text] [Related]
18. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G; Ricciardi S; Orteschi D; Lattante S; Murdolo M; Dallapiccola B; Biscione C; Lecce R; Chiurazzi P; Romano C; Greco D; Pettinato R; Sorge G; Pantaleoni C; Alfei E; Toldo I; Magnani C; Bonanni P; Martinez F; Serra G; Battaglia D; Lettori D; Vasco G; Baroncini A; Daolio C; Zollino M
Am J Med Genet A; 2011 Jul; 155A(7):1536-45. PubMed ID: 21671391
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of Na
Martinowich K; Das D; Sripathy SR; Mai Y; Kenney RF; Maher BJ
Mol Psychiatry; 2023 Jan; 28(1):76-82. PubMed ID: 36224259
[TBL] [Abstract][Full Text] [Related]
20. Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.
Yang J; Horton JR; Li J; Huang Y; Zhang X; Blumenthal RM; Cheng X
Nucleic Acids Res; 2019 Sep; 47(16):8375-8387. PubMed ID: 31081034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]