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Items: 1 to 50 of 54

1.

Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

Moore C, Blumhagen RZ, Yang IV, Walts A, Powers J, Walker T, Bishop M, Russell P, Vestal B, Cardwell J, Markin CR, Mathai SK, Schwarz MI, Steele MP, Lee J, Brown KK, Loyd JE, Crapo JD, Silverman EK, Cho MH, James JA, Guthridge JM, Cogan JD, Kropski JA, Swigris JJ, Bair C, Kim DS, Ji W, Kim H, Song JW, Maier LA, Pacheco KA, Hirani N, Poon AS, Li F, Jenkins RG, Braybrooke R, Saini G, Maher TM, Molyneaux PL, Saunders P, Zhang Y, Gibson KF, Kass DJ, Rojas M, Sembrat J, Wolters PJ, Collard HR, Sundy JS, O'Riordan T, Strek ME, Noth I, Ma SF, Porteous MK, Kreider ME, Patel NB, Inoue Y, Hirose M, Arai T, Akagawa S, Eickelberg O, Fernandez IE, Behr J, Mogulkoc N, Corte TJ, Glaspole I, Tomassetti S, Ravaglia C, Poletti V, Crestani B, Borie R, Kannengiesser C, Parfrey H, Fiddler C, Rassl D, Molina-Molina M, Machahua C, Worboys AM, Gudmundsson G, Isaksson HJ, Lederer DJ, Podolanczuk AJ, Montesi SB, Bendstrup E, Danchel V, Selman M, Pardo A, Henry MT, Keane MP, Doran P, Vašáková M, Sterclova M, Ryerson CJ, Wilcox PG, Okamoto T, Furusawa H, Miyazaki Y, Laurent G, Baltic S, Prele C, Moodley Y, Shea BS, Ohta K, Suzukawa M, Narumoto O, Nathan SD, Venuto DC, Woldehanna ML, Kokturk N, de Andrade JA, Luckhardt T, Kulkarni T, Bonella F, Donnelly SC, McElroy A, Armstong ME, Aranda A, Carbone RG, Puppo F, Beckman KB, Nickerson DA, Fingerlin TE, Schwartz DA.

Am J Respir Crit Care Med. 2019 Jul 15;200(2):199-208. doi: 10.1164/rccm.201810-1891OC.

2.

Low-grade albuminuria in pulmonary arterial hypertension.

Nickel NP, de Jesus Perez VA, Zamanian RT, Fessel JP, Cogan JD, Hamid R, West JD, de Caestecker MP, Yang H, Austin ED.

Pulm Circ. 2019 Apr-Jun;9(2):2045894018824564. doi: 10.1177/2045894018824564.

3.

The Y Chromosome Regulates BMPR2 Expression via SRY: A Possible Reason "Why" Fewer Males Develop Pulmonary Arterial Hypertension.

Yan L, Cogan JD, Hedges LK, Nunley B, Hamid R, Austin ED.

Am J Respir Crit Care Med. 2018 Dec 15;198(12):1581-1583. doi: 10.1164/rccm.201802-0308LE. No abstract available.

PMID:
30252494
4.

HACER: an atlas of human active enhancers to interpret regulatory variants.

Wang J, Dai X, Berry LD, Cogan JD, Liu Q, Shyr Y.

Nucleic Acids Res. 2019 Jan 8;47(D1):D106-D112. doi: 10.1093/nar/gky864.

5.

Phenotypic heterogeneity of ZMPSTE24 deficiency.

Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network.

Am J Med Genet A. 2018 May;176(5):1175-1179. doi: 10.1002/ajmg.a.38493. Epub 2018 Jan 17.

6.

Genome-Wide Association Study of 58 Individuals with Fibrosing Mediastinitis Reveals Possible Underlying Genetic Susceptibility.

Richmond BW, Guo Y, Yu C, Kendall PL, Mason WR, Cogan JD, Loyd JE.

Am J Respir Crit Care Med. 2018 May 1;197(9):1219-1220. doi: 10.1164/rccm.201708-1765LE. No abstract available.

7.

Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.

Kropski JA, Reiss S, Markin C, Brown KK, Schwartz DA, Schwarz MI, Loyd JE, Phillips JA 3rd, Blackwell TS, Cogan JD.

Am J Respir Crit Care Med. 2017 Dec 1;196(11):1481-1484. doi: 10.1164/rccm.201703-0635LE. No abstract available.

8.

Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.

Kropski JA, Young LR, Cogan JD, Mitchell DB, Lancaster LH, Worrell JA, Markin C, Liu N, Mason WR, Fingerlin TE, Schwartz DA, Lawson WE, Blackwell TS, Phillips JA 3rd, Loyd JE.

Am J Respir Crit Care Med. 2017 Jun 1;195(11):1423-1428. doi: 10.1164/rccm.201609-1820PP. No abstract available.

9.

Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism.

Chen X, Talati M, Fessel JP, Hemnes AR, Gladson S, French J, Shay S, Trammell A, Phillips JA, Hamid R, Cogan JD, Dawson EP, Womble KE, Hedges LK, Martinez EG, Wheeler LA, Loyd JE, Majka SJ, West J, Austin ED.

Circulation. 2016 Jan 5;133(1):82-97. doi: 10.1161/CIRCULATIONAHA.115.016133. Epub 2015 Oct 20.

10.

Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension.

Newman JH, Holt TN, Cogan JD, Womack B, Phillips JA 3rd, Li C, Kendall Z, Stenmark KR, Thomas MG, Brown RD, Riddle SR, West JD, Hamid R.

Nat Commun. 2015 Apr 15;6:6863. doi: 10.1038/ncomms7863.

11.

Rare variants in RTEL1 are associated with familial interstitial pneumonia.

Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS.

Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC.

12.

Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease.

Kropski JA, Pritchett JM, Zoz DF, Crossno PF, Markin C, Garnett ET, Degryse AL, Mitchell DB, Polosukhin VV, Rickman OB, Choi L, Cheng DS, McConaha ME, Jones BR, Gleaves LA, McMahon FB, Worrell JA, Solus JF, Ware LB, Lee JW, Massion PP, Zaynagetdinov R, White ES, Kurtis JD, Johnson JE, Groshong SD, Lancaster LH, Young LR, Steele MP, Phillips Iii JA, Cogan JD, Loyd JE, Lawson WE, Blackwell TS.

Am J Respir Crit Care Med. 2015 Feb 15;191(4):417-26. doi: 10.1164/rccm.201406-1162OC.

13.

Functional prostacyclin synthase promoter polymorphisms. Impact in pulmonary arterial hypertension.

Stearman RS, Cornelius AR, Lu X, Conklin DS, Del Rosario MJ, Lowe AM, Elos MT, Fettig LM, Wong RE, Hara N, Cogan JD, Phillips JA 3rd, Taylor MR, Graham BB, Tuder RM, Loyd JE, Geraci MW.

Am J Respir Crit Care Med. 2014 May 1;189(9):1110-20. doi: 10.1164/rccm.201309-1697OC.

14.

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Kropski JA, Mitchell DB, Markin C, Polosukhin VV, Choi L, Johnson JE, Lawson WE, Phillips JA 3rd, Cogan JD, Blackwell TS, Loyd JE.

Chest. 2014 Jul;146(1):e1-e7. doi: 10.1378/chest.13-2224.

15.

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

Fingerlin TE, Murphy E, Zhang W, Peljto AL, Brown KK, Steele MP, Loyd JE, Cosgrove GP, Lynch D, Groshong S, Collard HR, Wolters PJ, Bradford WZ, Kossen K, Seiwert SD, du Bois RM, Garcia CK, Devine MS, Gudmundsson G, Isaksson HJ, Kaminski N, Zhang Y, Gibson KF, Lancaster LH, Cogan JD, Mason WR, Maher TM, Molyneaux PL, Wells AU, Moffatt MF, Selman M, Pardo A, Kim DS, Crapo JD, Make BJ, Regan EA, Walek DS, Daniel JJ, Kamatani Y, Zelenika D, Smith K, McKean D, Pedersen BS, Talbert J, Kidd RN, Markin CR, Beckman KB, Lathrop M, Schwarz MI, Schwartz DA.

Nat Genet. 2013 Jun;45(6):613-20. doi: 10.1038/ng.2609. Epub 2013 Apr 14. Erratum in: Nat Genet. 2013 Nov;45(11):1409.

16.

Telomerase deficiency does not alter bleomycin-induced fibrosis in mice.

Degryse AL, Xu XC, Newman JL, Mitchell DB, Tanjore H, Polosukhin VV, Jones BR, McMahon FB, Gleaves LA, Phillips JA 3rd, Cogan JD, Blackwell TS, Lawson WE.

Exp Lung Res. 2012 Apr;38(3):124-34. doi: 10.3109/01902148.2012.658148.

17.

Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension.

Maloney JP, Stearman RS, Bull TM, Calabrese DW, Tripp-Addison ML, Wick MJ, Broeckel U, Robbins IM, Wheeler LA, Cogan JD, Loyd JE.

Am J Physiol Lung Cell Mol Physiol. 2012 Mar 15;302(6):L541-54. doi: 10.1152/ajplung.00282.2011. Epub 2011 Dec 23.

18.

Idiopathic and heritable PAH perturb common molecular pathways, correlated with increased MSX1 expression.

Austin ED, Menon S, Hemnes AR, Robinson LR, Talati M, Fox KL, Cogan JD, Hamid R, Hedges LK, Robbins I, Lane K, Newman JH, Loyd JE, West J.

Pulm Circ. 2011 Jul-Sep;1(3):389-98. doi: 10.4103/2045-8932.87308.

19.

Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.

Poling JS, Phillips JA 3rd, Cogan JD, Hamid R.

Clin Transl Sci. 2011 Jun;4(3):175-9. doi: 10.1111/j.1752-8062.2011.00290.x.

20.

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

Alder JK, Cogan JD, Brown AF, Anderson CJ, Lawson WE, Lansdorp PM, Phillips JA 3rd, Loyd JE, Chen JJ, Armanios M.

PLoS Genet. 2011 Mar;7(3):e1001352. doi: 10.1371/journal.pgen.1001352. Epub 2011 Mar 31.

21.

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, Worrell JA, Stahlman MT, Phillips JA 3rd, Loyd JE, Cogan JD, Lawson WE.

Chest. 2010 Apr;137(4):969-73. doi: 10.1378/chest.09-0790.

22.

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.

Hamid R, Hedges LK, Austin E, Phillips JA 3rd, Loyd JE, Cogan JD.

Clin Genet. 2010 Mar;77(3):280-6. doi: 10.1111/j.1399-0004.2009.01311.x. Epub 2010 Jan 20.

23.

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG.

J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746. Epub 2009 Oct 16.

24.

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

Austin ED, Phillips JA, Cogan JD, Hamid R, Yu C, Stanton KC, Phillips CA, Wheeler LA, Robbins IM, Newman JH, Loyd JE.

Respir Res. 2009 Sep 28;10:87. doi: 10.1186/1465-9921-10-87.

25.

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension.

Johnson JA, Vnencak-Jones CL, Cogan JD, Loyd JE, West J.

BMC Med Genet. 2009 Jun 16;10:58. doi: 10.1186/1471-2350-10-58.

26.

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

Austin ED, Cogan JD, West JD, Hedges LK, Hamid R, Dawson EP, Wheeler LA, Parl FF, Loyd JE, Phillips JA 3rd.

Eur Respir J. 2009 Nov;34(5):1093-9. doi: 10.1183/09031936.00010409. Epub 2009 Apr 8.

27.

The enteropathy of prostaglandin deficiency.

Adler DH, Phillips JA 3rd, Cogan JD, Iverson TM, Schnetz-Boutaud N, Stein JA, Brenner DA, Milne GL, Morrow JD, Boutaud O, Oates JA.

J Gastroenterol. 2009;44 Suppl 19:1-7. doi: 10.1007/s00535-008-2253-y. Epub 2009 Jan 16.

28.

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA 3rd, Newman JH, Loyd JE.

Hum Mutat. 2009 Apr;30(4):649-54. doi: 10.1002/humu.20922.

29.

Short telomeres are a risk factor for idiopathic pulmonary fibrosis.

Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, Vulto I, Xie M, Qi X, Tuder RM, Phillips JA 3rd, Lansdorp PM, Loyd JE, Armanios MY.

Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13051-6. doi: 10.1073/pnas.0804280105. Epub 2008 Aug 27.

30.

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.

Phillips JA 3rd, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE.

Genet Med. 2008 May;10(5):359-65. doi: 10.1097/GIM.0b013e318172dcdf.

PMID:
18496036
31.

Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.

Adler DH, Cogan JD, Phillips JA 3rd, Schnetz-Boutaud N, Milne GL, Iverson T, Stein JA, Brenner DA, Morrow JD, Boutaud O, Oates JA.

J Clin Invest. 2008 Jun;118(6):2121-31. doi: 10.1172/JCI30473. Erratum in: J Clin Invest. 2009 Sep;119(9):2844.

32.

GH1 gene deletions and IGHD type 1A.

Cogan JD, Phillips JA 3rd.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:480-8. Review. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551470
33.

Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension.

Meyrick BO, Friedman DB, Billheimer DD, Cogan JD, Prince MA, Phillips JA 3rd, Loyd JE.

Am J Respir Crit Care Med. 2008 Jan 1;177(1):99-107. Epub 2007 Oct 11.

34.

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

Stewart DR, Cogan JD, Kramer MR, Miller WT Jr, Christiansen LE, Pauciulo MW, Messiaen LM, Tu GS, Thompson WH, Pyeritz RE, Ryu JH, Nichols WC, Kodama M, Meyrick BO, Ross DJ.

Chest. 2007 Sep;132(3):798-808. Epub 2007 Jun 15.

PMID:
17573495
35.

New methods in genetic diagnosis including prenatal diagnosis.

Cogan JD, Phillips JA 3rd.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:424-33; discussion 434-6. Review.

PMID:
17551462
36.

Telomerase mutations in families with idiopathic pulmonary fibrosis.

Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE.

N Engl J Med. 2007 Mar 29;356(13):1317-26.

37.

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. Epub 2006 May 25.

38.

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE.

Genet Med. 2005 Mar;7(3):169-74.

PMID:
15775752
39.

Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism.

Park JK, Ozata M, Chorich LP, Cheng L, Bick DP, Sherins RJ, Ozdemir IC, Bolu E, Cogan JD, Phillips JA, Layman LC.

Clin Endocrinol (Oxf). 2004 Jan;60(1):147-9. No abstract available.

PMID:
14678304
40.

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Lourenço DM Jr, Mellon PL.

J Clin Endocrinol Metab. 2000 Jan;85(1):390-7.

PMID:
10634415
41.

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

Cogan JD, Wu W, Phillips JA 3rd, Arnhold IJ, Agapito A, Fofanova OV, Osorio MG, Bircan I, Moreno A, Mendonca BB.

J Clin Endocrinol Metab. 1998 Sep;83(9):3346-9.

PMID:
9745452
42.

Growth disorders caused by genetic defects in the growth hormone pathway.

Cogan JD, Phillips JA 3rd.

Adv Pediatr. 1998;45:337-61. Review.

PMID:
9742308
43.

Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions.

Arnhold IJ, Osorio MG, Oliveira SB, Estefan V, Kamijo T, Krishnamani MR, Cogan JD, Phillips JA 3rd, Mendonca BB.

Braz J Med Biol Res. 1998 Apr;31(4):491-7.

PMID:
9698799
44.

Mutations in PROP1 cause familial combined pituitary hormone deficiency.

Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG.

Nat Genet. 1998 Feb;18(2):147-9.

PMID:
9462743
45.

Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controls.

Wagner JK, Eblé A, Cogan JD, Prince MA, Phillips JA 3rd, Mullis PE.

Eur J Endocrinol. 1997 Nov;137(5):474-81.

PMID:
9405026
46.

A novel mechanism of aberrant pre-mRNA splicing in humans.

Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EM, Phillips JA 3rd.

Hum Mol Genet. 1997 Jun;6(6):909-12.

PMID:
9175738
47.

Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).

Miyata I, Cogan JD, Prince MA, Kamijo T, Ogawa M, Phillips JA 3rd.

Endocr J. 1997 Feb;44(1):149-54.

48.

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.

Raskin S, Cogan JD, Summar ML, Moreno A, Krishnamani MR, Phillips JA 3rd.

Hum Genet. 1996 Dec;98(6):703-5.

PMID:
8931705
49.

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.

Cogan JD, Ramel B, Lehto M, Phillips J 3rd, Prince M, Blizzard RM, de Ravel TJ, Brammert M, Groop L.

J Clin Endocrinol Metab. 1995 Dec;80(12):3591-5.

PMID:
8530604
50.

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