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Items: 1 to 50 of 200

1.

Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins.

Na CH, Sharma N, Madugundu AK, Chen R, Aksit MA, Rosson GD, Cutting GR, Pandey A.

Mol Cell Proteomics. 2019 Jul;18(7):1382-1395. doi: 10.1074/mcp.RA118.001101. Epub 2019 Apr 12.

PMID:
30979791
2.

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
3.

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.

4.

Decreased mRNA and protein stability of W1282X limits response to modulator therapy.

Aksit MA, Bowling AD, Evans TA, Joynt AT, Osorio D, Patel S, West N, Merlo C, Sosnay PR, Cutting GR, Sharma N.

J Cyst Fibros. 2019 Feb 22. pii: S1569-1993(19)30027-X. doi: 10.1016/j.jcf.2019.02.009. [Epub ahead of print]

PMID:
30803905
5.

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR.

PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov.

6.

Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study.

Teerapuncharoen K, Wells JM, Raju SV, Raraigh KS, Atalar Aksit M, Cutting GR, Rasmussen L, Nath PH, Bhatt SP, Solomon GM, Dransfield MT, Rowe SM.

Ann Am Thorac Soc. 2019 Jan;16(1):150-153. doi: 10.1513/AnnalsATS.201805-325RL. No abstract available.

PMID:
30230364
7.

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Han ST, Rab A, Pellicore MJ, Davis EF, McCague AF, Evans TA, Joynt AT, Lu Z, Cai Z, Raraigh KS, Hong JS, Sheppard DN, Sorscher EJ, Cutting GR.

JCI Insight. 2018 Jul 26;3(14). pii: 121159. doi: 10.1172/jci.insight.121159. eCollection 2018 Jul 26.

8.

AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.

Darrah RJ, Jacono FJ, Joshi N, Mitchell AL, Sattar A, Campanaro CK, Litman P, Frey J, Nethery DE, Barbato ES, Hodges CA, Corvol H, Cutting GR, Knowles MR, Strug LJ, Drumm ML.

J Cyst Fibros. 2019 Jan;18(1):127-134. doi: 10.1016/j.jcf.2018.05.013. Epub 2018 Jun 22.

9.

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR.

Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24.

10.

Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test.

Choi DH, Thaxton A, Jeong IC, Kim K, Sosnay PR, Cutting GR, Searson PC.

J Cyst Fibros. 2018 Jul;17(4):e35-e38. doi: 10.1016/j.jcf.2018.03.005. Epub 2018 Mar 23.

PMID:
29580829
11.

The relationship of lung function with ambient temperature.

Collaco JM, Appel LJ, McGready J, Cutting GR.

PLoS One. 2018 Jan 18;13(1):e0191409. doi: 10.1371/journal.pone.0191409. eCollection 2018.

12.

Treating Specific Variants Causing Cystic Fibrosis.

Cutting GR.

JAMA. 2017 Dec 5;318(21):2130-2131. doi: 10.1001/jama.2017.16823. No abstract available.

PMID:
29209709
13.

Transformative therapies for rare CFTR missense alleles.

Oliver KE, Han ST, Sorscher EJ, Cutting GR.

Curr Opin Pharmacol. 2017 Jun;34:76-82. doi: 10.1016/j.coph.2017.09.018. Epub 2017 Oct 13. Review.

14.

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.

15.

Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK.

Hum Genome Var. 2017 May 25;4:17016. doi: 10.1038/hgv.2017.16. eCollection 2017.

16.

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R, Króliczewski J, Piotrowski A, Jasiecka AJ, Bartoszewska S, Vecchio-Pagan B, Fu L, Sobolewska A, Matalon S, Cutting GR, Rowe SM, Collawn JF.

Cell Mol Biol Lett. 2016 Oct 19;21:23. doi: 10.1186/s11658-016-0025-x. eCollection 2016. Review.

17.

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Lee M, Roos P, Sharma N, Atalar M, Evans TA, Pellicore MJ, Davis E, Lam AN, Stanley SE, Khalil SE, Solomon GM, Walker D, Raraigh KS, Vecchio-Pagan B, Armanios M, Cutting GR.

Am J Hum Genet. 2017 May 4;100(5):751-765. doi: 10.1016/j.ajhg.2017.04.001.

18.

Lessons from the CAGI-4 Hopkins clinical panel challenge.

Chandonia JM, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, Lam HYK, Leonardi E, Moult J, Pal LR, Searls DB, Shah S, Sunyaev S, Tosatto SCE, Yin Y, Buckley BA.

Hum Mutat. 2017 Sep;38(9):1155-1168. doi: 10.1002/humu.23225. Epub 2017 Jun 12.

19.

Wearable Potentiometric Chloride Sweat Sensor: The Critical Role of the Salt Bridge.

Choi DH, Kim JS, Cutting GR, Searson PC.

Anal Chem. 2016 Dec 20;88(24):12241-12247. doi: 10.1021/acs.analchem.6b03391. Epub 2016 Nov 29.

PMID:
28193033
20.

Cystic Fibrosis and Congenital Absence of the Vas Deferens.

Ong T, Marshall SG, Karczeski BA, Sternen DL, Cheng E, Cutting GR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Mar 26 [updated 2017 Feb 2].

21.

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Vecchio-Pagán B, Blackman SM, Lee M, Atalar M, Pellicore MJ, Pace RG, Franca AL, Raraigh KS, Sharma N, Knowles MR, Cutting GR.

Hum Genome Var. 2016 Nov 24;3:16038. eCollection 2016.

22.

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.

Sharma N, LaRusch J, Sosnay PR, Gottschalk LB, Lopez AP, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR.

Am J Physiol Lung Cell Mol Physiol. 2016 Dec 1;311(6):L1170-L1182. doi: 10.1152/ajplung.00363.2016. Epub 2016 Oct 28.

23.

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK.

Hum Genome Var. 2016 Jul 7;3:16020. doi: 10.1038/hgv.2016.20. eCollection 2016. Erratum in: Hum Genome Var. 2017 May 25;4:17016.

24.

Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis.

Collaco JM, Raraigh KS, Appel LJ, Cutting GR.

J Cyst Fibros. 2016 Nov;15(6):794-801. doi: 10.1016/j.jcf.2016.05.012. Epub 2016 Jun 11.

25.

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.

26.

25 Years of Human Mutation.

Cutting GR, Kazazian HH Jr.

Hum Mutat. 2016 Jun;37(6):503-4. doi: 10.1002/humu.22988. No abstract available.

PMID:
26990436
27.

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR.

Hum Mol Genet. 2016 May 15;25(10):1923-1933. Epub 2016 Feb 23.

28.

From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Veit G, Avramescu RG, Chiang AN, Houck SA, Cai Z, Peters KW, Hong JS, Pollard HB, Guggino WB, Balch WE, Skach WR, Cutting GR, Frizzell RA, Sheppard DN, Cyr DM, Sorscher EJ, Brodsky JL, Lukacs GL.

Mol Biol Cell. 2016 Feb 1;27(3):424-33. doi: 10.1091/mbc.E14-04-0935.

29.

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.

Gottschalk LB, Vecchio-Pagan B, Sharma N, Han ST, Franca A, Wohler ES, Batista DA, Goff LA, Cutting GR.

J Cyst Fibros. 2016 May;15(3):285-94. doi: 10.1016/j.jcf.2015.11.010. Epub 2015 Dec 13.

30.

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.

31.

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.

32.

In Memoriam: Richard G.H. Cotton (1940-2015).

Kazazian HH Jr, Paalman MH, Cutting GR.

Hum Mutat. 2015 Aug;36(8):741-2. doi: 10.1002/humu.22826. Epub 2015 Jul 3. No abstract available.

PMID:
26148136
33.

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.

34.

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.

35.

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R.

Hum Mol Genet. 2015 Apr 1;24(7):1908-17. doi: 10.1093/hmg/ddu607. Epub 2014 Dec 8.

36.

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.

37.

Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.

Collaco JM, Blackman SM, Raraigh KS, Morrow CB, Cutting GR, Paranjape SM.

BMC Pulm Med. 2014 Oct 6;14:159. doi: 10.1186/1471-2466-14-159.

38.

The microbiome in pediatric cystic fibrosis patients: the role of shared environment suggests a window of intervention.

Hampton TH, Green DM, Cutting GR, Morrison HG, Sogin ML, Gifford AH, Stanton BA, O'Toole GA.

Microbiome. 2014 Apr 28;2:14. doi: 10.1186/2049-2618-2-14. eCollection 2014.

39.

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Raraigh KS, Amaral MD, Karchin R, Cutting GR.

Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10.

40.

Melanocortin 3 receptor has a 5' exon that directs translation of apically localized protein from the second in-frame ATG.

Park J, Sharma N, Cutting GR.

Mol Endocrinol. 2014 Sep;28(9):1547-57. doi: 10.1210/me.2014-1105. Epub 2014 Jul 22.

41.

Cat and dog exposure and respiratory morbidities in cystic fibrosis.

Morrow CB, Raraigh KS, Green DM, Blackman SM, Cutting GR, Collaco JM.

J Pediatr. 2014 Oct;165(4):830-5.e2. doi: 10.1016/j.jpeds.2014.05.046. Epub 2014 Jul 12.

42.

Annotating DNA variants is the next major goal for human genetics.

Cutting GR.

Am J Hum Genet. 2014 Jan 2;94(1):5-10. doi: 10.1016/j.ajhg.2013.12.008.

43.

Interpretation of genetic variants.

Sosnay PR, Cutting GR.

Thorax. 2014 Mar;69(3):295-7. doi: 10.1136/thoraxjnl-2013-204903. Epub 2013 Dec 16.

44.

Thanatophoric Dysplasia.

Karczeski B, Cutting GR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 May 21 [updated 2013 Sep 12].

45.

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.

46.

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.

47.

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.

48.

Environmental allergies and respiratory morbidities in cystic fibrosis.

Collaco JM, Morrow CB, Green DM, Cutting GR, Mogayzel PJ Jr.

Pediatr Pulmonol. 2013 Sep;48(9):857-64. doi: 10.1002/ppul.22700. Epub 2012 Nov 9.

49.

Genetic modifiers of nutritional status in cystic fibrosis.

Bradley GM, Blackman SM, Watson CP, Doshi VK, Cutting GR.

Am J Clin Nutr. 2012 Dec;96(6):1299-308. doi: 10.3945/ajcn.112.043406. Epub 2012 Nov 7.

50.

Human Variome Project country nodes: documenting genetic information within a country.

Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council.

Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18.

PMID:
22753370

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