相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Incidence of familial dysautonomia in Israel 1977-1981
Ch. Maayan et al.
CLINICAL GENETICS (2010)
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment
Eva Pros et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells
Hadas Keren et al.
PLOS ONE (2010)
Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia
Nathalie Boone et al.
PLOS ONE (2010)
Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP
Yei-Tsung Chen et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
Gabsang Lee et al.
NATURE (2009)
Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing
Gabrielle Gold-von Simson et al.
PEDIATRIC RESEARCH (2009)
IKBKAP mRNA in peripheral blood leukocytes: A molecular marker of gene expression and splicing in familial dysautonomia
Gabrielle Gold-Von Simson et al.
PEDIATRIC RESEARCH (2008)
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
David Cheishvili et al.
HUMAN MOLECULAR GENETICS (2007)
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect
Matthew M. Hims et al.
GENOMICS (2007)
Elongator complex: how many roles does it play?
Jesper Q. Svejstrup
CURRENT OPINION IN CELL BIOLOGY (2007)
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
Matthew M. Hims et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2007)
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia
El Cherif Ibrahim et al.
HUMAN MUTATION (2007)
Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis
Anders Esberg et al.
MOLECULAR CELL (2006)
Alternative splicing: New insights from global analyses
Benjamin J. Blencowe
CELL (2006)
Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomia
Pierre Close et al.
MOLECULAR CELL (2006)
Isolation of mouse neuritic mRNAs
Surya A. Reis et al.
JOURNAL OF MOLECULAR HISTOLOGY (2006)
Anesthesia management of familial dysautonomia
Jennie Ngai et al.
PEDIATRIC ANESTHESIA (2006)
The splicing machinery is a genetic modifier of disease severity
M Nissim-Rafinia et al.
TRENDS IN GENETICS (2005)
Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation
PB Rahl et al.
MOLECULAR CELL (2005)
Splicing regulators: targets and drugs
GWM Yeo
GENOME BIOLOGY (2005)
Alternative splicing in disease and therapy
MA Garcia-Blanco et al.
NATURE BIOTECHNOLOGY (2004)
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
SA Slaugenhaupt et al.
HUMAN MOLECULAR GENETICS (2004)
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
JM Johnson et al.
SCIENCE (2003)
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
SL Anderson et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Tocotrienols induce IKBKAP expression:: a possible therapy for familial dysautonomia
SL Anderson et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Screening for familial dysautonomia in Israel: Evidence for higher carrier rate among Polish Ashkenazi Jews
O Lehavi et al.
GENETIC TESTING (2003)
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
MP Cuajungco et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Pre-mRNA splicing and human disease
NA Faustino et al.
GENES & DEVELOPMENT (2003)
A novel specific role for IκB kinase complex-associated protein in cytosolic stress signaling
C Holmberg et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
L Cartegni et al.
NATURE REVIEWS GENETICS (2002)
Purification and characterization of the human Elongator complex
NA Hawkes et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
IK Svenson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
SA Slaugenhaupt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Familial dysautonomia is caused by mutations of the IKAP gene
SL Anderson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The IκB kinase (IKK) complex is tripartite and contains IKKγ but not IKAP as a regular component
D Krappmann et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Similar splice-site mutations of the ATP7A gene lead to different phenotypes:: Classical Menkes disease or occipital horn syndrome
LB Moller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)