BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 36224259)

  • 1. 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]  

  • 2. Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.
    Cleary CM; James S; Maher BJ; Mulkey DK
    Nat Commun; 2021 Oct; 12(1):5962. PubMed ID: 34645823
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na
    Ekins S; Puhl AC; Davidow A
    Pharm Res; 2020 Jun; 37(7):127. PubMed ID: 32529312
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
    Thaxton C; Kloth AD; Clark EP; Moy SS; Chitwood RA; Philpot BD
    J Neurosci; 2018 Jan; 38(4):918-936. PubMed ID: 29222403
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Repurposing Approved Drugs as Inhibitors of K
    Ekins S; Gerlach J; Zorn KM; Antonio BM; Lin Z; Gerlach A
    Pharm Res; 2019 Jul; 36(9):137. PubMed ID: 31332533
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of
    Kim H; Gao EB; Draper A; Berens NC; Vihma H; Zhang X; Higashi-Howard A; Ritola KD; Simon JM; Kennedy AJ; Philpot BD
    Elife; 2022 May; 11():. PubMed ID: 35535852
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
    Phan BN; Bohlen JF; Davis BA; Ye Z; Chen HY; Mayfield B; Sripathy SR; Cerceo Page S; Campbell MN; Smith HL; Gallop D; Kim H; Thaxton CL; Simon JM; Burke EE; Shin JH; Kennedy AJ; Sweatt JD; Philpot BD; Jaffe AE; Maher BJ
    Nat Neurosci; 2020 Mar; 23(3):375-385. PubMed ID: 32015540
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome.
    Sripathy SR; Wang Y; Moses RL; Fatemi A; Batista DA; Maher BJ
    Stem Cell Res; 2020 Oct; 48():102001. PubMed ID: 32971458
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.
    Liu Y; Guo Y; Liu P; Li F; Yang C; Song J; Hu J; Xin D; Chen Z
    Int J Dev Neurosci; 2018 Jun; 67():51-54. PubMed ID: 29604340
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism.
    Espinoza F; Carrazana R; Retamal-Fredes E; Ávila D; Papes F; Muotri AR; Ávila A
    Biochim Biophys Acta Mol Basis Dis; 2024 Jun; 1870(5):167178. PubMed ID: 38636614
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
    Sparber P; Filatova A; Anisimova I; Markova T; Voinova V; Chuhrova A; Tabakov V; Skoblov M
    Eur J Med Genet; 2020 Dec; 63(12):104088. PubMed ID: 33069932
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
    Davis BA; Chen HY; Ye Z; Ostlund I; Tippani M; Das D; Sripathy SR; Wang Y; Martin JM; Shim G; Panchwagh NM; Moses RL; Farinelli F; Bohlen JF; Li M; Luikart BW; Jaffe AE; Maher BJ
    Biol Psychiatry; 2024 Apr; 95(7):662-675. PubMed ID: 37573005
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Fatal gastrointestinal complications in Pitt-Hopkins syndrome.
    Koppen IJN; Menke LA; Westra WM; Struik F; Mesman S; van Wijk MP; Huisman SA
    Am J Med Genet A; 2023 Mar; 191(3):855-858. PubMed ID: 36511359
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.