These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 38429579)

  • 1. PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
    Rasool D; Burban A; Sharanek A; Madrigal A; Hu J; Yan K; Qu D; Voss AK; Slack RS; Thomas T; Bonni A; Picketts DJ; Soleimani VD; Najafabadi HS; Jahani-Asl A
    EMBO Rep; 2024 Mar; 25(3):1256-1281. PubMed ID: 38429579
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
    Jahani-Asl A; Cheng C; Zhang C; Bonni A
    Neurobiol Dis; 2016 Dec; 96():227-235. PubMed ID: 27633282
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
    McRae HM; Leong MPY; Bergamasco MI; Garnham AL; Hu Y; Corbett MA; Whitehead L; El-Saafin F; Sheikh BN; Wilcox S; Hannan AJ; Gécz J; Smyth GK; Thomas T; Voss AK
    PLoS Genet; 2024 Oct; 20(10):e1011428. PubMed ID: 39405291
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
    McRae HM; Eccles S; Whitehead L; Alexander WS; Gécz J; Thomas T; Voss AK
    Development; 2020 Oct; 147(21):. PubMed ID: 32994169
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
    Cheng C; Deng PY; Ikeuchi Y; Yuede C; Li D; Rensing N; Huang J; Baldridge D; Maloney SE; Dougherty JD; Constantino J; Jahani-Asl A; Wong M; Wozniak DF; Wang T; Klyachko VA; Bonni A
    Cell Rep; 2018 Nov; 25(6):1404-1414.e6. PubMed ID: 30403997
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel Nonsense Mutation of
    Zhang X; Fan Y; Liu X; Zhu MA; Sun Y; Yan H; He Y; Ye X; Gu X; Yu Y
    J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):419-425. PubMed ID: 30630810
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
    Liu Z; Li F; Ruan K; Zhang J; Mei Y; Wu J; Shi Y
    J Biol Chem; 2014 Apr; 289(14):10069-83. PubMed ID: 24554700
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
    Ahmed R; Sarwar S; Hu J; Cardin V; Qiu LR; Zapata G; Vandeleur L; Yan K; Lerch JP; Corbett MA; Gecz J; Picketts DJ
    Hum Mol Genet; 2021 May; 30(7):575-594. PubMed ID: 33772537
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
    Kasper BS; Dörfler A; Di Donato N; Kasper EM; Wieczorek D; Hoyer J; Zweier C
    Epilepsy Behav; 2017 Apr; 69():104-109. PubMed ID: 28237832
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    Zweier C; Kraus C; Brueton L; Cole T; Degenhardt F; Engels H; Gillessen-Kaesbach G; Graul-Neumann L; Horn D; Hoyer J; Just W; Rauch A; Reis A; Wollnik B; Zeschnigk M; Lüdecke HJ; Wieczorek D
    J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
    Bellad A; Bandari AK; Pandey A; Girimaji SC; Muthusamy B
    J Mol Neurosci; 2020 Sep; 70(9):1403-1409. PubMed ID: 32399860
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.
    Voss AK; Gamble R; Collin C; Shoubridge C; Corbett M; Gécz J; Thomas T
    Gene Expr Patterns; 2007 Oct; 7(8):858-71. PubMed ID: 17698420
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
    Gerber CB; Fliedner A; Bartsch O; Berland S; Dewenter M; Haug M; Hayes I; Marin-Reina P; Mark PR; Martinez-Castellano F; Maystadt I; Karadurmus D; Steindl K; Wiesener A; Zweier M; Sticht H; Zweier C
    Clin Genet; 2022 Sep; 102(3):182-190. PubMed ID: 35662002
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Loss of PHF6 leads to aberrant development of human neuron-like cells.
    Fliedner A; Gregor A; Ferrazzi F; Ekici AB; Sticht H; Zweier C
    Sci Rep; 2020 Nov; 10(1):19030. PubMed ID: 33149206
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].
    Que YX; Li P; Hu SX
    Zhonghua Er Ke Za Zhi; 2021 May; 59(5):414-416. PubMed ID: 33902228
    [TBL] [Abstract][Full Text] [Related]  

  • 17. miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6.
    Franzoni E; Booker SA; Parthasarathy S; Rehfeld F; Grosser S; Srivatsa S; Fuchs HR; Tarabykin V; Vida I; Wulczyn FG
    Elife; 2015 Jan; 4():. PubMed ID: 25556700
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
    Carter MT; Picketts DJ; Hunter AG; Graham GE
    Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain.
    Zhang C; Mejia LA; Huang J; Valnegri P; Bennett EJ; Anckar J; Jahani-Asl A; Gallardo G; Ikeuchi Y; Yamada T; Rudnicki M; Harper JW; Bonni A
    Neuron; 2013 Jun; 78(6):986-93. PubMed ID: 23791194
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
    Garcia-Melendo C; Roé E; Rodríguez-Santiago B; Amat-Samaranch V; Cubiró X; Puig L; Boronat S
    Pediatr Dermatol; 2021 Jul; 38(4):919-925. PubMed ID: 34041787
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.