Results 81 to 90 of about 1,641 (164)
Reductions in IKAP increase neuronal branching and perturb cell separation.
, 2013 DRG were dissociated, transfected with IKBKAP shRNA or control scrambled shRNA and cultured for 24 hrs. (A–F). Reductions in IKAP increased the number of neurons in cultures from immature (E5) DRG.
Marta Chaverra (331391) +3 more
core +1 more source
IKAP expression in WT and FD early and mature neurons.
, 2015 (A) RT-PCR analysis of the expression of IKBKAP showing WT (upper lane) and FD (mis-spliced, lower lane) mRNA isoforms at the stage of early neuronal precursors, early and mature neurons.
Miguel Weil (222465) +14 more
core +1 more source
IKAP regulates neuronal differentiation in the DRG.
, 2013 Reduction in IKAP leads to increased numbers of neurons in the immature DRG (A–C). Embryos at St. 12 were transfected with either control shRNAs or IKBKAP shRNAs and analyzed at St 24/25. Embryos were sectioned, and immunolabled with the neuronal markers
Marta Chaverra (331391) +3 more
core +1 more source
, 2007 Mutations that affect the splicing of pre-mRNA are a major cause of human disease. Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a T to C transition at base pair 6 of IKBKAP intron 20.
Reed, Robin +10 more
core +1 more source
Semi-quantitative RT-PCR analyses.
, 2013 Equal amount of total RNA from control (C) and mutant (M, IkbkapΔ20/Δ20) embryos at the indicated stages (E8.5-E10.5) was used for cDNA synthesis in the presence of reverse transcriptase (RT) and the resulting cDNA was used for amplification of the ...
Paula Dietrich (340949) +3 more
core +1 more source
, 2012 International audienceFamilial dysautonomia (FD) is a rare inherited neurodegenerative disorder. The most common mutation is a c.2204+6T>C transition in the 5' splice site (5'ss) of IKBKAP intron 20, which causes a tissue-specific skipping of exon 20 ...
Boone, Nathalie +6 more
core +1 more source
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia
, 2016 Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affects the development and survival of sensory and autonomic neurons.
Alli, Shanta +11 more
core +1 more source
Loss-of-function of IKAP/ELP1:could neuronal migration defect underlie familial dysautonomia?
, 2008 Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system.
Kallunki, Tuula +3 more
core +1 more source
Height, weight, and body mass index in patients with familial dysautonomia. [PDF]
PLoS One, 2023 Cotrina ML +5 more
europepmc +1 more source
, 2012 Familial dysautonomia (FD) is an autosomal recessive disorder that is caused by mutations in the IKBKAP gene that result in the production of nonfunctional IKAP protein.
Liu, Bo
core +1 more source