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.
5. Retina-specific loss of Ueki Y; Shchepetkina V; Lefcort F Dis Model Mech; 2018 Jul; 11(7):. PubMed ID: 29929962 [TBL] [Abstract][Full Text] [Related]
6. [Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia]. Close P; Creppe C; Cornez I; Chariot A Bull Mem Acad R Med Belg; 2007; 162(5-6):315-22. PubMed ID: 18405001 [TBL] [Abstract][Full Text] [Related]
9. Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients. Cheishvili D; Laiba E; Rekhtman D; Claman A; Razin A; Maayan C Auton Neurosci; 2014 Feb; 180():59-65. PubMed ID: 24268683 [TBL] [Abstract][Full Text] [Related]
10. Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients. Yannai S; Zonszain J; Donyo M; Ast G PLoS One; 2019; 14(3):e0211602. PubMed ID: 30889183 [TBL] [Abstract][Full Text] [Related]
11. Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation. Lefler S; Cohen MA; Kantor G; Cheishvili D; Even A; Birger A; Turetsky T; Gil Y; Even-Ram S; Aizenman E; Bashir N; Maayan C; Razin A; Reubinoff BE; Weil M PLoS One; 2015; 10(10):e0138807. PubMed ID: 26437462 [TBL] [Abstract][Full Text] [Related]
12. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Cuajungco MP; Leyne M; Mull J; Gill SP; Lu W; Zagzag D; Axelrod FB; Maayan C; Gusella JF; Slaugenhaupt SA Am J Hum Genet; 2003 Mar; 72(3):749-58. PubMed ID: 12577200 [TBL] [Abstract][Full Text] [Related]
15. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Mezey E; Parmalee A; Szalayova I; Gill SP; Cuajungco MP; Leyne M; Slaugenhaupt SA; Brownstein MJ Brain Res; 2003 Sep; 983(1-2):209-14. PubMed ID: 12914982 [TBL] [Abstract][Full Text] [Related]
16. Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD. Anderson SL; Fasih-Ahmad F; Evans AJ; Rubin BY Hum Mol Genet; 2022 Oct; 31(20):3521-3538. PubMed ID: 35708500 [TBL] [Abstract][Full Text] [Related]
17. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Morini E; Dietrich P; Salani M; Downs HM; Wojtkiewicz GR; Alli S; Brenner A; Nilbratt M; LeClair JW; Oaklander AL; Slaugenhaupt SA; Dragatsis I Hum Mol Genet; 2016 Mar; 25(6):1116-28. PubMed ID: 26769677 [TBL] [Abstract][Full Text] [Related]