BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 24594265)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.
    Forrest MP; Waite AJ; Martin-Rendon E; Blake DJ
    PLoS One; 2013; 8(8):e73169. PubMed ID: 24058414
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.
    Rannals MD; Hamersky GR; Page SC; Campbell MN; Briley A; Gallo RA; Phan BN; Hyde TM; Kleinman JE; Shin JH; Jaffe AE; Weinberger DR; Maher BJ
    Neuron; 2016 Apr; 90(1):43-55. PubMed ID: 26971948
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.
    Quednow BB; Brzózka MM; Rossner MJ
    Cell Mol Life Sci; 2014 Aug; 71(15):2815-35. PubMed ID: 24413739
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.
    Rossi M; Labalme A; Cordier MP; Till M; Blanchard G; Dubois R; Guibaud L; Heissat S; Javouhey E; Lachaux A; Mure PY; Ville D; Edery P; Sanlaville D
    Am J Med Genet A; 2012 Dec; 158A(12):3174-81. PubMed ID: 23165966
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.
    Navarrete K; Pedroso I; De Jong S; Stefansson H; Steinberg S; Stefansson K; Ophoff RA; Schalkwyk LC; Collier DA
    Am J Med Genet B Neuropsychiatr Genet; 2013 Jan; 162B(1):1-16. PubMed ID: 23129290
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.