Pre-mRNA splicing and human disease
NA Faustino, TA Cooper - Genes & development, 2003 - genesdev.cshlp.org
The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …
26 years after the discovery that the coding information of metazoan genes is interrupted by …
Splicing in disease: disruption of the splicing code and the decoding machinery
Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …
[HTML][HTML] Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Alternative splicing of human cystic fibrosis transmembrane conductance regulator (CFTR)
exon 9 is regulated by a combination of cis‐acting elements distributed through the exon …
exon 9 is regulated by a combination of cis‐acting elements distributed through the exon …
Genomic variants in exons and introns: identifying the splicing spoilers
F Pagani, FE Baralle - Nature Reviews Genetics, 2004 - nature.com
When genome variants are identified in genomic DNA, especially during routine analysis of
disease-associated genes, their functional implications might not be immediately evident …
disease-associated genes, their functional implications might not be immediately evident …
Genotype and phenotype in cystic fibrosis
J Zielenski - Respiration, 2000 - karger.com
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene which encodes a protein expressed in the apical membrane of exocrine …
(CFTR) gene which encodes a protein expressed in the apical membrane of exocrine …
Alternative splicing in disease and therapy
MA Garcia-Blanco, AP Baraniak, EL Lasda - Nature biotechnology, 2004 - nature.com
Alternative splicing is the major source of proteome diversity in humans and thus is highly
relevant to disease and therapy. For example, recent work suggests that the long-sought …
relevant to disease and therapy. For example, recent work suggests that the long-sought …
[HTML][HTML] An inventory of the human ABC proteins
Currently 30 human ABC proteins are represented by full sequences in various databases,
and this paper provides a brief overview of these proteins. ABC proteins are composed of …
and this paper provides a brief overview of these proteins. ABC proteins are composed of …
Regulation of male fertility by CFTR and implications in male infertility
H Chen, YC Ruan, WM Xu, J Chen… - Human reproduction …, 2012 - academic.oup.com
BACKGROUND The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-
activated Cl− and HCO3− conducting channel, mutations of which are known to be …
activated Cl− and HCO3− conducting channel, mutations of which are known to be …
Splicing regulation as a potential genetic modifier
M Nissim-Rafinia, B Kerem - TRENDS in Genetics, 2002 - cell.com
Inherited diseases are associated with profound phenotypic variability, which is affected
strongly by genetic modifiers. The splicing machinery could be one such modifying system …
strongly by genetic modifiers. The splicing machinery could be one such modifying system …
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
F Pagani, C Stuani, M Tzetis… - Human molecular …, 2003 - academic.oup.com
The increase in genome scanning data, derived from clinical genetics practice, is producing
a wealth of information on human sequence variability. The critical issue is to identify if a …
a wealth of information on human sequence variability. The critical issue is to identify if a …