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Items: 1 to 20 of 28

1.

Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux.

Woodley FW, Moore-Clingenpeel M, Machado RS, Nemastil CJ, Jadcherla SR, Hayes D Jr, Kopp BT, Kaul A, Di Lorenzo C, Mousa H.

Pediatr Gastroenterol Hepatol Nutr. 2017 Sep;20(3):153-159. doi: 10.5223/pghn.2017.20.3.153. Epub 2017 Sep 26.

2.

Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.

Polineni D, Dang H, Gallins PJ, Jones LC, Pace RG, Stonebraker JR, Commander LA, Krenicky JE, Zhou YH, Corvol H, Cutting GR, Drumm ML, Strug LJ, Boyle MP, Durie PR, Chmiel JF, Zou F, Wright FA, O'Neal WK, Knowles MR.

Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC.

PMID:
28853905
3.

Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severity.

Kormann MSD, Dewerth A, Eichner F, Baskaran P, Hector A, Regamey N, Hartl D, Handgretinger R, Antony JS.

PLoS One. 2017 Aug 28;12(8):e0183526. doi: 10.1371/journal.pone.0183526. eCollection 2017.

4.

In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.

Trouvé P, Génin E, Férec C.

PLoS One. 2017 Mar 24;12(3):e0173822. doi: 10.1371/journal.pone.0173822. eCollection 2017.

5.
6.

Cystic fibrosis genetics: from molecular understanding to clinical application.

Cutting GR.

Nat Rev Genet. 2015 Jan;16(1):45-56. doi: 10.1038/nrg3849. Epub 2014 Nov 18. Review.

7.

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

Gallati S.

Appl Clin Genet. 2014 Jul 10;7:133-46. doi: 10.2147/TACG.S18675. eCollection 2014. Review.

8.

Genetic influences on cystic fibrosis lung disease severity.

Weiler CA, Drumm ML.

Front Pharmacol. 2013 Apr 23;4:40. doi: 10.3389/fphar.2013.00040. eCollection 2013.

9.

The influence of genetics on cystic fibrosis phenotypes.

Knowles MR, Drumm M.

Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a009548. doi: 10.1101/cshperspect.a009548.

10.

Assessing the Disease-Liability of Mutations in CFTR.

Ferec C, Cutting GR.

Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a009480. doi: 10.1101/cshperspect.a009480.

11.

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation.

Labenski H, Hedtfeld S, Becker T, Tümmler B, Stanke F.

Eur J Hum Genet. 2011 Dec;19(12):1281-8. doi: 10.1038/ejhg.2011.129. Epub 2011 Jul 6.

12.

Understanding protein kinase CK2 mis-regulation upon F508del CFTR expression.

Venerando A, Pagano MA, Tosoni K, Meggio F, Cassidy D, Stobbart M, Pinna LA, Mehta A.

Naunyn Schmiedebergs Arch Pharmacol. 2011 Oct;384(4-5):473-88. doi: 10.1007/s00210-011-0650-x. Epub 2011 May 24. Review.

14.

Modifier genes in Mendelian disorders: the example of cystic fibrosis.

Cutting GR.

Ann N Y Acad Sci. 2010 Dec;1214:57-69. doi: 10.1111/j.1749-6632.2010.05879.x. Review.

15.

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M Jr, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B.

J Med Genet. 2011 Jan;48(1):24-31. doi: 10.1136/jmg.2010.080937. Epub 2010 Sep 12.

16.

Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function.

Collaco JM, Blackman SM, McGready J, Naughton KM, Cutting GR.

J Pediatr. 2010 Nov;157(5):802-7.e1-3. doi: 10.1016/j.jpeds.2010.05.018. Epub 2010 Jun 30.

17.

Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.

Stanke F, Davenport C, Hedtfeld S, Tümmler B.

Eur J Hum Genet. 2010 May;18(5):553-9. doi: 10.1038/ejhg.2009.229. Epub 2010 Jan 6.

18.

EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity.

Darrah R, McKone E, O'Connor C, Rodgers C, Genatossio A, McNamara S, Gibson R, Stuart Elborn J, Ennis M, Gallagher CG, Kalsheker N, Aitken M, Wiese D, Dunn J, Smith P, Pace R, Londono D, Goddard KA, Knowles MR, Drumm ML.

Physiol Genomics. 2010 Mar 3;41(1):71-7. doi: 10.1152/physiolgenomics.00185.2009. Epub 2009 Dec 22.

19.

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemková D, Hannah WB, Phillips MJ, Corey M, Zielenski J, Dorfman R, Wang Y, Zou F, Silverman LM, Drumm ML, Wright FA, Lange EM, Durie PR, Knowles MR; Gene Modifier Study Group.

JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295.

20.

Update on gene modifiers in cystic fibrosis.

Collaco JM, Cutting GR.

Curr Opin Pulm Med. 2008 Nov;14(6):559-66. doi: 10.1097/MCP.0b013e3283121cdc. Review.

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