1 - 25 of 33 results for author:"Zielenski J." in Literature citations
Results Customize
› Repeat search in UniProtKB (1)
| Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Sun L., Rommens J.M., Corvol H., Li W., Li X., Chiang T.A., Lin F., Dorfman R., Busson P.F., Parekh R.V. et al. Nat. Genet. 44:562-569(2012) · Mapped (6) |
| Recommendations for the classification of diseases as CFTR-related disorders. Bombieri C., Claustres M., De Boeck K., Derichs N., Dodge J., Girodon E., Sermet I., Schwarz M., Tzetis M., Wilschanski M. et al. J. Cyst. Fibros. 10 Suppl 2:S86-102(2011) · Mapped (45) |
| TLR5 as an anti-inflammatory target and modifier gene in cystic fibrosis. Blohmke C.J., Park J., Hirschfeld A.F., Victor R.E., Schneiderman J., Stefanowicz D., Chilvers M.A., Durie P.R., Corey M., Zielenski J. et al. J. Immunol. 185:7731-7738(2010) · Mapped (4) |
| Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis. Members of Canadian Consortium for CF Genetic Studies Pediatr. Pulmonol. 46:385-392(2011) · Mapped (3) |
| Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Ooi C.Y., Dorfman R., Cipolli M., Gonska T., Castellani C., Keenan K., Freedman S.D., Zielenski J., Berthiaume Y., Corey M. et al. Gastroenterology 140:153-161(2011) · Mapped (45) |
| Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients. Czerska K., Sobczynska-Tomaszewska A., Sands D., Nowakowska A., Bak D., Wertheim K., Poznanski J., Zielenski J., Norek A., Bal J. J. Appl. Genet. 51:323-330(2010) · Mapped (14) |
| Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Dorfman R., Nalpathamkalam T., Taylor C., Gonska T., Keenan K., Yuan X.W., Corey M., Tsui L.C., Zielenski J., Durie P. Clin. Genet. 77:464-473(2010) · Mapped (45) |
| Genetic modifiers of liver disease in cystic fibrosis. Bartlett J.R., Friedman K.J., Ling S.C., Pace R.G., Bell S.C., Bourke B., Castaldo G., Castellani C., Cipolli M., Colombo C. et al. JAMA 302:1076-1083(2009) · Mapped (23) |
| Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Dorfman R., Li W., Sun L., Lin F., Wang Y., Sandford A., Pare P.D., McKay K., Kayserova H., Piskackova T. et al. Hum. Genet. 126:763-778(2009) · Mapped (5) |
| Normalization of obesity-associated insulin resistance through immunotherapy. Winer S., Chan Y., Paltser G., Truong D., Tsui H., Bahrami J., Dorfman R., Wang Y., Zielenski J., Mastronardi F. et al. Nat. Med. 15:921-929(2009) · Mapped (15) |
| A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. Aznarez I., Barash Y., Shai O., He D., Zielenski J., Tsui L.C., Parkinson J., Frey B.J., Rommens J.M., Blencowe B.J. Genome Res. 18:1247-1258(2008) · Mapped (11) |
| Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening. Madore A.M., Prevost C., Dorfman R., Taylor C., Durie P., Zielenski J., Laprise C. Genet. Med. 10:201-206(2008) · Mapped (45) |
| Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Dorfman R., Sandford A., Taylor C., Huang B., Frangolias D., Wang Y., Sang R., Pereira L., Sun L., Berthiaume Y. et al. J. Clin. Invest. 118:1040-1049(2008) · Mapped (12) |
| Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function. Pall H., Zielenski J., Jonas M.M., DaSilva D.A., Potvin K.M., Yuan X.W., Huang Q., Freedman S.D. J. Pediatr. 151:255-259(2007) · Mapped (45) |
| Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. Aznarez I., Zielenski J., Rommens J.M., Blencowe B.J., Tsui L.C. J. Med. Genet. 44:341-346(2007) · Mapped (45) |
| Genetic modifiers of lung disease in cystic fibrosis. Drumm M.L., Konstan M.W., Schluchter M.D., Handler A., Pace R., Zou F., Zariwala M., Fargo D., Xu A., Dunn J.M. et al. N. Engl. J. Med. 353:1443-1453(2005) · Mapped (54) |
| The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Bishop M.D., Freedman S.D., Zielenski J., Ahmed N., Dupuis A., Martin S., Ellis L., Shea J., Hopper I., Corey M. et al. Hum. Genet. 118:372-381(2005) · Mapped (45) |
| Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Gilljam M., Ellis L., Corey M., Zielenski J., Durie P., Tullis D.E. Chest 126:1215-1224(2004) · Mapped (45) |
| Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Aznarez I., Chan E.M., Zielenski J., Blencowe B.J., Tsui L.-C. Hum. Mol. Genet. 12:2031-2040(2003) · UniProtKB (1) |
| Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas. Ahmed N., Corey M., Forstner G., Zielenski J., Tsui L.C., Ellis L., Tullis E., Durie P. Gut 52:1159-1164(2003) · Mapped (45) |
| Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Sheth S., Shea J.C., Bishop M.D., Chopra S., Regan M.M., Malmberg E., Walker C., Ricci R., Tsui L.C., Durie P.R. et al. Hum. Genet. 113:286-292(2003) · Mapped (45) |
| Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease. Frangolias D.D., Ruan J., Wilcox P.J., Davidson A.G., Wong L.T., Berthiaume Y., Hennessey R., Freitag A., Pedder L., Corey M. et al. Am. J. Respir. Cell Mol. Biol. 29:390-396(2003) · Mapped (52) |
| Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Durno C., Corey M., Zielenski J., Tullis E., Tsui L.C., Durie P. Gastroenterology 123:1857-1864(2002) · Mapped (45) |
| Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations. Strandvik B., Bjorck E., Fallstrom M., Gronowitz E., Thountzouris J., Lindblad A., Markiewicz D., Wahlstrom J., Tsui L.C., Zielenski J. Genet. Test. 5:235-242(2001) · Mapped (45) |
| An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis. Nicol C.J., Zielenski J., Tsui L.C., Wells P.G. FASEB J. 14:111-127(2000) · Mapped (4) |