Results 71 to 80 of about 1,641 (164)

A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex [PDF]

, 2014
Elongator is a conserved, multi-protein complex discovered in Saccharomyces cerevisiae, loss of which confers a range of pleiotropic phenotypes. Elongator in higher eukaryotes is required for normal growth and development and a mutation in the largest ...
Bandau, Susanne, Stark, Michael J. R., Di Santo, Rachael   +2 more
core   +1 more source

Ikbkap downregulation affect β-tubulin structure in growth cone.

, 2014
DRG from lumbar region of E10 embryos were electroporated with control or ikbkap specific siRNA, grown on laminin for 48 hours as described in methods, and stained with IKAP (red) and β-tubulin (green) antibodies.
Miguel Weil (222465), Anastasia Abashidze (663634), Yaron Anavi (663636), Hayit Greenspan (663637), Veronica Gold (663635)   +4 more
core   +1 more source

Developing treatment modalities for, and characterization of splicing of IKBKAP exon 20 in, individuals with familial dysautonomia

, 2009
Familial Dysautonomia (FD), also known as Riley-Day Syndrome or Hereditary sensory neuropathy type III (HSAN type III, MIM 223900), is an autosomal recessive disorder that is caused by the mutation, IVS20+6T→C, in IKBKAP, which changes the intron 20 ...
Qiu, Jinsong
core   +1 more source

Ikbkap downregulation affects pJNK and dynein localization in growth cones.

, 2014
DRG from lumbar region of E10 embryos were electroporated with control or ikbkap specific siRNA, grown on laminin for 48 hours as described in methods, and stained for IKAP, phosphorylated JNK (pJNK) (A–H), or dynein (I–P, R, S).
Miguel Weil (222465), Anastasia Abashidze (663634), Yaron Anavi (663636), Hayit Greenspan (663637), Veronica Gold (663635)   +4 more
core   +1 more source

Generation of Tyrp2-Cre;IKBKAP^{FDloxP/FDloxP} (CKO^Tyrp2 FD) mice.

, 2016
(A) Two loxP sequences were inserted in the introns flanking exon 20 of the IKBKAP gene (IKBAKPFDloxP/FDloxP mouse, the mouse shown on the left). IKBAKPFDloxP/FDloxP mice were mated with Tyrp2-Cre mice (the mouse on the right).
Maya Donyo (234098), Yuvraj Joshi (3594623), Ziv Abramovitch (3594629), Tal Gradus (622920), Shiran Naftelberg (3594614), Eran Perlson (475929), Chen Farhy (203463), Sivan Yannai (3594626), Keren Ben-Yaakov (3594620), Ruth Ashery-Padan (389817), Shani Gluska (622918), Jonathan Zonszain (3594617), Gil Ast (10995)   +12 more
core   +1 more source

Rescue effect of kinetin on IKBKAP expression and concomitantly on in FD-hESC derived PNS neurons.

, 2015
(A) RT-PCR results of one day kinetin treatment on FD-hESC derived PNS neurons showing the drug correcting effect on FD alternative splicing. (B) qRT-PCR analysis of the relative quantification levels represented as mean ± s.d. of IKBKAP and co-regulated
Miguel Weil (222465), Einat Aizenman (157691), Aviel Even (554750), Sharona Even-Ram (803379), Nibal Bashir (803380), Benjamim E. Reubinoff (803381), Gal Kantor (803376), Sharon Lefler (253080), Malkiel A. Cohen (253081), Yaniv Gil (132152), Channa Maayan (234102), Anastasya Birger (803377), David Cheishvili (554749), Tikva Turetsky (803378), Aharon Razin (554751)   +14 more
core   +1 more source

Association of Genetic Polymorphisms in Tumor Suppressors, ERP29 and PTCH1, and DNA Transcription Factors, IKBKAP and ZNF415, with Cutaneous Melanoma Risk

Annals of Oncology, 2012
ABSTRACT Introduction Recently, we found that genetic single nucleotide polymorphisms (SNPs) in tumor suppressors ERP29 c.293A > G, PTCH1 g.79755C > T and g.79456C > T, and in genes of DNA transcription IKBKAP p.Cys1072Ser and ZNF415 c.443A > G, alter the oropharynx cancer risk. The study was conducted using high resolution DNA microarrays genotyping
E.F.D. Costa, G.J. Lourenço, C. Oliveira, J.A. Rinck-Junior, A.M. Moraes, G.A.S. Nogueira, C.S.P. Lima   +6 more
openaire   +1 more source

Reductions in IKAP decreases proliferation of progenitors and increases cell death in the developing neural tube.

, 2013
Embryos were transfected/electroporated with IKBKAP shRNAs (A,B) or control shRNAs (C,D) at St. 13 and fixed at St. 23 (ca 48 hrs). Reductions in IKAP increase the death of CNS progenitors as indicated by cleaved-caspase 3+ (A–D; vertical line indicates ...
Marta Chaverra (331391), Frances Lefcort (331394), Barbara J. Hunnicutt (331390), Lynn George (331393)   +3 more
core   +1 more source

Fine mapping of the 9q31 Hirschsprung's disease locus [PDF]

, 2010
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene.
Verheij, JBGM, M. M. Garcia-Barceló, G. Burzynski, Cherny, SS, Osinga, J., So, MT, Hui, K. J. W. S., de Vries, A. R., Verheij, J. B. G. M., Hofstra, RMW, Miao, XP, P. K. H. Tam, M. T. So, Yip, BH, C. S. Tang, S. S. Cherny, Hui, KJWS, Hofstra, R. M. W., Sribudiani, Y, GarciaBarceló, MM, Garcia-Barcelo, M. M., P. C. Sham, K. J. W. S. Hui, Miao, X. P., Leon, Y. Y., Cherny, S. S., Burzynski, G, Tam, PKH, Tang, C. S., Yip, B. H., A. R. de Vries, J. Osinga, Y. Sribudiani, X. P. Miao, Sham, PC, Sham, P. C., De Vries, AR, B. H. Yip, R. M. W. Hofstra, Osinga, J, Y. Y. Leon, Burzynski, G., Leon, YY, So, M. T., Sribudiani, Y., Tam, P. K. H., J. B. G. M. Verheij, Tang, CS   +47 more
core   +1 more source

Reductions in IKAP alter neural tube development and induce ectopic branching of motor axons.

, 2013
All transfected cells (control shRNA transfected embryos in A, H, I; IKBKAP shRNA in B–G) are EGFP+; right side of spinal cord is transfected in all embryos (asterisk).
Marta Chaverra (331391), Frances Lefcort (331394), Barbara J. Hunnicutt (331390), Lynn George (331393)   +3 more
core   +1 more source