Detalhe da pesquisa
1.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
2.
Caring for Dependents Travel Awards to Promote Career Advancement of Early Career Faculty with Caregiver Responsibilities.
J Gen Intern Med
; 38(12): 2852-2853, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256527
3.
Specific correction of a splice defect in brain by nutritional supplementation.
Hum Mol Genet
; 20(21): 4093-101, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821670
4.
Design and Implementation of a Leadership Development Program for Early-Stage Investigators: Initial Results.
J Contin Educ Health Prof
; 2023 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377441
5.
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
Pediatr Res
; 70(5): 480-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21775922
6.
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.
Pediatr Res
; 65(3): 341-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19033881
7.
Primary cilia defects causing mitral valve prolapse.
Sci Transl Med
; 11(493)2019 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31118289
8.
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
J Mol Med (Berl)
; 85(2): 149-61, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17206408
9.
New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies.
Circulation
; 112(13): 2022-30, 2005 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-16172273
10.
Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?
Brain Res
; 983(1-2): 209-14, 2003 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-12914982
11.
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Mol Cell Biol
; 29(3): 736-44, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19015235
12.
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
Pediatr Res
; 63(2): 186-90, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18091349
13.
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Genomics
; 90(3): 389-96, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17644305
14.
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
Am J Hum Genet
; 72(3): 749-58, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12577200
15.
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Hum Mol Genet
; 13(4): 429-36, 2004 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14709595
16.
Identification of the first non-Jewish mutation in familial Dysautonomia.
Am J Med Genet A
; 118A(4): 305-8, 2003 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12687659
17.
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.
Am J Hum Genet
; 72(6): 1551-9, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707861