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Items: 1 to 50 of 111

1.

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.

McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR.

Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC.

PMID:
30888834
2.

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

Gong J, Wang F, Xiao B, Panjwani N, Lin F, Keenan K, Avolio J, Esmaeili M, Zhang L, He G, Soave D, Mastromatteo S, Baskurt Z, Kim S, O'Neal WK, Polineni D, Blackman SM, Corvol H, Cutting GR, Drumm M, Knowles MR, Rommens JM, Sun L, Strug LJ.

PLoS Genet. 2019 Feb 26;15(2):e1008007. doi: 10.1371/journal.pgen.1008007. eCollection 2019 Feb.

3.

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ.

NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018.

4.

Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.

Strug LJ, Gonska T, He G, Keenan K, Ip W, Boëlle PY, Lin F, Panjwani N, Gong J, Li W, Soave D, Xiao B, Tullis E, Rabin H, Parkins MD, Price A, Zuberbuhler PC, Corvol H, Ratjen F, Sun L, Bear CE, Rommens JM.

Hum Mol Genet. 2016 Oct 15;25(20):4590-4600. doi: 10.1093/hmg/ddw290.

5.

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.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.

PMID:
28062395
6.

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

Collaco JM, Blackman SM, Raraigh KS, Corvol H, Rommens JM, Pace RG, Boelle PY, McGready J, Sosnay PR, Strug LJ, Knowles MR, Cutting GR.

Am J Respir Crit Care Med. 2016 Dec 1;194(11):1375-1382.

7.

Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk.

Nguyen TL, Aung YK, Evans CF, Dite GS, Stone J, MacInnis RJ, Dowty JG, Bickerstaffe A, Aujard K, Rommens JM, Song YM, Sung J, Jenkins MA, Southey MC, Giles GG, Apicella C, Hopper JL.

Int J Epidemiol. 2017 Apr 1;46(2):652-661. doi: 10.1093/ije/dyw212.

8.

Bias in CFTR screening panels.

Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR.

Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29. No abstract available.

9.

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

Corvol H, Blackman SM, Boëlle PY, Gallins PJ, Pace RG, Stonebraker JR, Accurso FJ, Clement A, Collaco JM, Dang H, Dang AT, Franca A, Gong J, Guillot L, Keenan K, Li W, Lin F, Patrone MV, Raraigh KS, Sun L, Zhou YH, O'Neal WK, Sontag MK, Levy H, Durie PR, Rommens JM, Drumm ML, Wright FA, Strug LJ, Cutting GR, Knowles MR.

Nat Commun. 2015 Sep 29;6:8382. doi: 10.1038/ncomms9382.

10.

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.

Zambetti NA, Bindels EM, Van Strien PM, Valkhof MG, Adisty MN, Hoogenboezem RM, Sanders MA, Rommens JM, Touw IP, Raaijmakers MH.

Haematologica. 2015 Oct;100(10):1285-93. doi: 10.3324/haematol.2015.131573. Epub 2015 Jul 16.

11.

A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.

Soave D, Corvol H, Panjwani N, Gong J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L.

Am J Hum Genet. 2015 Jul 2;97(1):125-38. doi: 10.1016/j.ajhg.2015.05.015.

12.

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

Dupuis A, Keenan K, Ooi CY, Dorfman R, Sontag MK, Naehrlich L, Castellani C, Strug LJ, Rommens JM, Gonska T.

Genet Med. 2016 Apr;18(4):333-40. doi: 10.1038/gim.2015.79. Epub 2015 Jun 18.

PMID:
26087176
13.

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM.

PLoS Genet. 2015 Jun 9;11(6):e1005288. doi: 10.1371/journal.pgen.1005288. eCollection 2015 Jun.

14.

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.

Miller MR, Soave D, Li W, Gong J, Pace RG, Boëlle PY, Cutting GR, Drumm ML, Knowles MR, Sun L, Rommens JM, Accurso F, Durie PR, Corvol H, Levy H, Sontag MK, Strug LJ.

J Pediatr. 2015 May;166(5):1152-1157.e6. doi: 10.1016/j.jpeds.2015.01.044. Epub 2015 Mar 11.

15.

Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.

O'Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR.

Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29.

16.

Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study.

Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ.

Diabetes. 2014 Jun;63(6):2114-9. doi: 10.2337/db13-1464. Epub 2014 Feb 18.

17.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

18.

Genetic modifiers of cystic fibrosis-related diabetes.

Blackman SM, Commander CW, Watson C, Arcara KM, Strug LJ, Stonebraker JR, Wright FA, Rommens JM, Sun L, Pace RG, Norris SA, Durie PR, Drumm ML, Knowles MR, Cutting GR.

Diabetes. 2013 Oct;62(10):3627-35. doi: 10.2337/db13-0510. Epub 2013 May 13.

19.

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM.

Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
20.

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.

Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, Busson PF, Parekh RV, Zelenika D, Blackman SM, Corey M, Doshi VK, Henderson L, Naughton KM, O'Neal WK, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Clement A, Drumm ML, Boëlle PY, Cutting GR, Knowles MR, Durie PR, Strug LJ.

Nat Genet. 2012 May;44(5):562-9. doi: 10.1038/ng.2221.

21.

Breast cancer in a case of Shwachman Diamond syndrome.

Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM.

Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
22.

A genome-wide linkage study of mammographic density, a risk factor for breast cancer.

Greenwood CM, Paterson AD, Linton L, Andrulis IL, Apicella C, Dimitromanolakis A, Kriukov V, Martin LJ, Salleh A, Samiltchuk E, Parekh RV, Southey MC, John EM, Hopper JL, Boyd NF, Rommens JM.

Breast Cancer Res. 2011;13(6):R132. doi: 10.1186/bcr3078. Epub 2011 Dec 21.

23.

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, Corey M, Dorfman R, Goddard K, Green D, Kent JW Jr, Lange EM, Lee S, Li W, Luo J, Mayhew GM, Naughton KM, Pace RG, Paré P, Rommens JM, Sandford A, Stonebraker JR, Sun W, Taylor C, Vanscoy LL, Zou F, Blangero J, Zielenski J, O'Neal WK, Drumm ML, Durie PR, Knowles MR, Cutting GR.

Nat Genet. 2011 Jun;43(6):539-46. doi: 10.1038/ng.838. Epub 2011 May 22.

24.

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR.

J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):8-13. doi: 10.1097/MPG.0b013e3181d67e78.

PMID:
20512054
25.

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.

Raaijmakers MH, Mukherjee S, Guo S, Zhang S, Kobayashi T, Schoonmaker JA, Ebert BL, Al-Shahrour F, Hasserjian RP, Scadden EO, Aung Z, Matza M, Merkenschlager M, Lin C, Rommens JM, Scadden DT.

Nature. 2010 Apr 8;464(7290):852-7. doi: 10.1038/nature08851. Epub 2010 Mar 21.

26.

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.

Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CP.

Blood. 2010 Feb 11;115(6):1264-6. doi: 10.1182/blood-2009-07-233965. Epub 2009 Dec 9.

PMID:
20007542
27.

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.

Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR.

J Pediatr. 2010 Mar;156(3):433-8. doi: 10.1016/j.jpeds.2009.09.026. Epub 2009 Nov 10.

PMID:
19906387
28.

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS.

Hum Mol Genet. 2009 Oct 1;18(19):3684-95. doi: 10.1093/hmg/ddp316. Epub 2009 Jul 14.

29.

Mammographic density: a heritable risk factor for breast cancer.

Boyd NF, Martin LJ, Rommens JM, Paterson AD, Minkin S, Yaffe MJ, Stone J, Hopper JL.

Methods Mol Biol. 2009;472:343-60. doi: 10.1007/978-1-60327-492-0_15. Review.

PMID:
19107441
30.

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.

Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP.

Blood. 2009 Feb 12;113(7):1543-6. doi: 10.1182/blood-2008-08-175216. Epub 2008 Nov 6.

31.

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 LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ.

Genome Res. 2008 Aug;18(8):1247-58. doi: 10.1101/gr.073155.107. Epub 2008 May 2.

32.
33.
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35.

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.

Boocock GR, Marit MR, Rommens JM.

Genomics. 2006 Jun;87(6):758-71. Epub 2006 Mar 10.

36.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.

Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27. Erratum in: Nat Genet. 2006 Aug;38(8):957.

PMID:
16311595
37.

Mammographic breast density as an intermediate phenotype for breast cancer.

Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ, Paterson AD.

Lancet Oncol. 2005 Oct;6(10):798-808. Review. Erratum in: Lancet Oncol. 2005 Nov;6(11):826.

PMID:
16198986
38.

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.

Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sánchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM.

J Biol Chem. 2005 May 13;280(19):19213-20. Epub 2005 Feb 8.

39.

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ.

J Biol Chem. 2005 May 13;280(19):19221-9. Epub 2005 Feb 8.

40.

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG.

Clin Genet. 2004 Feb;65(2):101-12.

PMID:
14984468
41.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

42.

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.

Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.

PMID:
12496757
43.

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.

Ip WF, Dupuis A, Ellis L, Beharry S, Morrison J, Stormon MO, Corey M, Rommens JM, Durie PR.

J Pediatr. 2002 Aug;141(2):259-65.

PMID:
12183724
44.

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.

Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM.

Eur J Hum Genet. 2002 Apr;10(4):250-8.

45.

Non-CFTR chloride channels likely contribute to secretion in the murine small intestine.

Gyömörey K, Garami E, Galley K, Rommens JM, Bear CE.

Pflugers Arch. 2001;443 Suppl 1:S103-6. Epub 2001 Jul 6.

PMID:
11845313
46.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM.

Am J Hum Genet. 2001 Apr;68(4):1048-54. Epub 2001 Mar 15.

47.

Determinants of the nuclear localization of the heterodimeric DNA fragmentation factor (ICAD/CAD).

Lechardeur D, Drzymala L, Sharma M, Zylka D, Kinach R, Pacia J, Hicks C, Usmani N, Rommens JM, Lukacs GL.

J Cell Biol. 2000 Jul 24;150(2):321-34.

49.

Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM.

Am J Hum Genet. 2000 Apr;66(4):1413-6. Epub 2000 Mar 14.

50.

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM.

Am J Med Genet. 1999 Jul 16;85(2):171-4.

PMID:
10406671

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