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Page 1
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR. Stonebraker JR, et al. Among authors: durie pr. Hepatology. 2024 Mar 27. doi: 10.1097/HEP.0000000000000863. Online ahead of print. Hepatology. 2024. PMID: 38536042
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. Bartlett JR, et al. Among authors: durie pr. JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295. JAMA. 2009. PMID: 19738092 Free PMC article.
Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
Ooi CY, Sutherland R, Castellani C, Keenan K, Boland M, Reisman J, Bjornson C, Chilvers MA, van Wylick R, Kent S, Price A, Mateos-Corral D, Hughes D, Solomon M, Zuberbuhler P, Brusky J, Durie PR, Ratjen F, Gonska T. Ooi CY, et al. Among authors: durie pr. BMC Pediatr. 2019 Oct 22;19(1):369. doi: 10.1186/s12887-019-1756-4. BMC Pediatr. 2019. PMID: 31640630 Free PMC article.
Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.
Polineni D, Piccorelli AV, Hannah WB, Dalrymple SN, Pace RG, Durie PR, Ling SC, Knowles MR, Stonebraker JR. Polineni D, et al. Among authors: durie pr. PLoS One. 2018 Oct 11;13(10):e0205257. doi: 10.1371/journal.pone.0205257. eCollection 2018. PLoS One. 2018. PMID: 30307979 Free PMC article.
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. Polineni D, et al. Among authors: durie pr. Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC. Am J Respir Crit Care Med. 2018. PMID: 28853905 Free PMC article.
Therapeutic Endoscopic Retrograde Cholangiopancreatography in Pediatric Patients With Acute Recurrent and Chronic Pancreatitis: Data From the INSPPIRE (INternational Study group of Pediatric Pancreatitis: In search for a cuRE) Study.
Troendle DM, Fishman DS, Barth BA, Giefer MJ, Lin TK, Liu QY, Abu-El-Haija M, Bellin MD, Durie PR, Freedman SD, Gariepy C, Gonska T, Heyman MB, Himes R, Husain SZ, Kumar S, Lowe ME, Morinville VD, Ooi CY, Palermo J, Pohl JF, Schwarzenberg SJ, Werlin S, Wilschanski M, Zimmerman MB, Uc A. Troendle DM, et al. Among authors: durie pr. Pancreas. 2017 Jul;46(6):764-769. doi: 10.1097/MPA.0000000000000848. Pancreas. 2017. PMID: 28609364 Free PMC article.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Dhanraj S, et al. Among authors: durie pr. Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. Blood. 2017. PMID: 28062395 Free article. Clinical Trial. No abstract available.
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group; Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA. Ji SG, et al. Among authors: durie pr. Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992413 Free PMC article.
Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis: Lessons From INSPPIRE.
Kumar S, Ooi CY, Werlin S, Abu-El-Haija M, Barth B, Bellin MD, Durie PR, Fishman DS, Freedman SD, Gariepy C, Giefer MJ, Gonska T, Heyman MB, Himes R, Husain SZ, Lin TK, Lowe ME, Morinville V, Palermo JJ, Pohl JF, Schwarzenberg SJ, Troendle D, Wilschanski M, Zimmerman MB, Uc A. Kumar S, et al. Among authors: durie pr. JAMA Pediatr. 2016 Jun 1;170(6):562-9. doi: 10.1001/jamapediatrics.2015.4955. JAMA Pediatr. 2016. PMID: 27064572 Free PMC article.
161 results