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Items: 1 to 50 of 72

1.

A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.

Gochuico BR, Ziegler SG, Ten NS, Balanda NJ, Mason CE, Zumbo P, Evans CA, Van Waes C, Gahl WA, Malicdan MCV.

Transl Res. 2019 Aug 28. pii: S1931-5244(19)30171-9. doi: 10.1016/j.trsl.2019.08.008. [Epub ahead of print]

PMID:
31520587
2.

Bleomycin Induces Drug Efflux in Lungs: A pitfall for Pharmacological Studies of Pulmonary Fibrosis.

Park JK, Coffey NJ, Bodine SP, Zawatsky CN, Jay L, Gahl WA, Kunos G, Gochuico BR, Malicdan MCV, Cinar R.

Am J Respir Cell Mol Biol. 2019 Aug 16. doi: 10.1165/rcmb.2018-0147OC. [Epub ahead of print]

PMID:
31419911
3.

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.

Summer R, Krishna R, Schriner D, Cuevas-Mora K, Sales D, Para R, Roman J, Nieweld C, Gochuico BR, Romero F.

Orphanet J Rare Dis. 2019 Jul 4;14(1):162. doi: 10.1186/s13023-019-1143-0.

4.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.

5.

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

Taveira-DaSilva AM, Markello TC, Kleiner DE, Jones AM, Groden C, Macnamara E, Yokoyama T, Gahl WA, Gochuico BR, Moss J.

J Med Genet. 2018 Nov 1. pii: jmedgenet-2018-105560. doi: 10.1136/jmedgenet-2018-105560. [Epub ahead of print]

6.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR.

Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.

PMID:
30369044
7.

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease.

Haroutunian SG, O'Brien KJ, Estrada-Veras JI, Yao J, Boyd LC, Mathur K, Gahl WA, Mirmomen SM, Malayeri AA, Kleiner DE, Jaffe ES, Gochuico BR.

J Clin Med. 2018 Aug 28;7(9). pii: E243. doi: 10.3390/jcm7090243.

8.

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR.

Mol Genet Metab. 2018 Sep;125(1-2):168-173. doi: 10.1016/j.ymgme.2018.07.012. Epub 2018 Jul 23.

PMID:
30055995
9.

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR.

PLoS One. 2018 Mar 16;13(3):e0194193. doi: 10.1371/journal.pone.0194193. eCollection 2018.

10.

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR.

Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018.

11.

Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.

Zhou Y, He CH, Yang DS, Nguyen T, Cao Y, Kamle S, Lee CM, Gochuico BR, Gahl WA, Shea BS, Lee CG, Elias JA.

J Immunol. 2018 Mar 15;200(6):2140-2153. doi: 10.4049/jimmunol.1701442. Epub 2018 Feb 2.

12.

The curse of idiopathic.

O'Brien KJ, Gahl WA, Gochuico BR.

J Inherit Metab Dis. 2018 Jan;41(1):3-4. doi: 10.1007/s10545-017-0101-z. Epub 2017 Oct 27. No abstract available.

13.

Hermansky-Pudlak Syndrome.

Huizing M, Malicdan MCV, Gochuico BR, Gahl WA.

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.
2000 Jul 24 [updated 2017 Oct 26].

14.

CA-125 in Disease Progression and Treatment of Lymphangioleiomyomatosis.

Glasgow CG, Pacheco-Rodriguez G, Steagall WK, Haughey ME, Julien-Williams PA, Stylianou MP, Gochuico BR, Moss J.

Chest. 2018 Feb;153(2):339-348. doi: 10.1016/j.chest.2017.05.018. Epub 2017 May 30.

15.

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

Estrada-Veras JI, O'Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, Malayeri AA, Chen MY, Gardner PJ, Alvarado-Enriquez JR, Shah N, Abdel-Wahab O, Gochuico BR, Raffeld M, Jaffe ES, Gahl WA.

Blood Adv. 2017 Feb 14;1(6):357-366. doi: 10.1182/bloodadvances.2016001784.

16.

Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis.

Cinar R, Gochuico BR, Iyer MR, Jourdan T, Yokoyama T, Park JK, Coffey NJ, Pri-Chen H, Szanda G, Liu Z, Mackie K, Gahl WA, Kunos G.

JCI Insight. 2017 Apr 20;2(8). pii: 92281. doi: 10.1172/jci.insight.92281. eCollection 2017 Apr 20.

17.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC.

PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017.

18.

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.

Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.

19.

High attenuation areas on chest computed tomography in community-dwelling adults: the MESA study.

Podolanczuk AJ, Oelsner EC, Barr RG, Hoffman EA, Armstrong HF, Austin JH, Basner RC, Bartels MN, Christie JD, Enright PL, Gochuico BR, Hinckley Stukovsky K, Kaufman JD, Hrudaya Nath P, Newell JD Jr, Palmer SM, Rabinowitz D, Raghu G, Sell JL, Sieren J, Sonavane SK, Tracy RP, Watts JR, Williams K, Kawut SM, Lederer DJ.

Eur Respir J. 2016 Nov;48(5):1442-1452. doi: 10.1183/13993003.00129-2016. Epub 2016 Jul 28.

20.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR.

Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.

21.

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Gil-Krzewska A, Murakami Y, Peruzzi G, O'Brien KJ, Merideth MA, Cullinane AR, Gahl WA, Coligan JE, Gochuico BR, Krzewski K.

Br J Haematol. 2017 Jan;176(1):118-123. doi: 10.1111/bjh.14390. Epub 2016 Oct 21.

22.

Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.

Kirshenbaum AS, Cruse G, Desai A, Bandara G, Leerkes M, Lee CC, Fischer ER, O'Brien KJ, Gochuico BR, Stone K, Gahl WA, Metcalfe DD.

PLoS One. 2016 Jul 26;11(7):e0159177. doi: 10.1371/journal.pone.0159177. eCollection 2016.

23.

Extensive Citrullination Promotes Immunogenicity of HSP90 through Protein Unfolding and Exposure of Cryptic Epitopes.

Travers TS, Harlow L, Rosas IO, Gochuico BR, Mikuls TR, Bhattacharya SK, Camacho CJ, Ascherman DP.

J Immunol. 2016 Sep 1;197(5):1926-36. doi: 10.4049/jimmunol.1600162. Epub 2016 Jul 22.

24.

Danazol Treatment for Telomere Diseases.

Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, Hardy N, Mihalek AD, Lingala S, Kim YJ, Yao J, Jones E, Gochuico BR, Heller T, Wu CO, Calado RT, Scheinberg P, Young NS.

N Engl J Med. 2016 May 19;374(20):1922-31. doi: 10.1056/NEJMoa1515319.

25.

MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.

Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, Gochuico BR, Bellusci S, Seeger W, Ochs M, Guenther A, Mahavadi P.

Am J Physiol Lung Cell Mol Physiol. 2016 Mar 15;310(6):L519-31. doi: 10.1152/ajplung.00213.2015. Epub 2015 Dec 30.

26.

A YAP/TAZ-miR-130/301 molecular circuit exerts systems-level control of fibrosis in a network of human diseases and physiologic conditions.

Bertero T, Cottrill KA, Annis S, Bhat B, Gochuico BR, Osorio JC, Rosas I, Haley KJ, Corey KE, Chung RT, Nelson Chau B, Chan SY.

Sci Rep. 2015 Dec 15;5:18277. doi: 10.1038/srep18277.

27.

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA.

J Clin Invest. 2015 Aug 3;125(8):3178-92. doi: 10.1172/JCI79792. Epub 2015 Jun 29.

28.

Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.

White K, Lu Y, Annis S, Hale AE, Chau BN, Dahlman JE, Hemann C, Opotowsky AR, Vargas SO, Rosas I, Perrella MA, Osorio JC, Haley KJ, Graham BB, Kumar R, Saggar R, Saggar R, Wallace WD, Ross DJ, Khan OF, Bader A, Gochuico BR, Matar M, Polach K, Johannessen NM, Prosser HM, Anderson DG, Langer R, Zweier JL, Bindoff LA, Systrom D, Waxman AB, Jin RC, Chan SY.

EMBO Mol Med. 2015 Jun;7(6):695-713. doi: 10.15252/emmm.201404511.

29.

Identification of Helicobacter pylori VacA in human lung and its effects on lung cells.

Nakashima S, Kakugawa T, Yura H, Tomonaga M, Harada T, Hara A, Hara S, Nakano M, Yamasaki E, Sakamoto N, Ishimatsu Y, Isomoto H, Gochuico BR, Suffredini AF, Mukae H, Kurazono H, Hirayama T, Moss J, Kohno S.

Biochem Biophys Res Commun. 2015 May 8;460(3):721-726. doi: 10.1016/j.bbrc.2015.03.096. Epub 2015 Mar 25.

30.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F.

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.

31.

Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.

Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B.

Am J Respir Crit Care Med. 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC.

32.

Anti-citrullinated heat shock protein 90 antibodies identified in bronchoalveolar lavage fluid are a marker of lung-specific immune responses.

Harlow L, Gochuico BR, Rosas IO, Doyle TJ, Osorio JC, Travers TS, Camacho CC, Oddis CV, Ascherman DP.

Clin Immunol. 2014 Nov;155(1):60-70. doi: 10.1016/j.clim.2014.08.004. Epub 2014 Aug 19.

33.

Mononuclear phagocytes and airway epithelial cells: novel sources of matrix metalloproteinase-8 (MMP-8) in patients with idiopathic pulmonary fibrosis.

Craig VJ, Polverino F, Laucho-Contreras ME, Shi Y, Liu Y, Osorio JC, Tesfaigzi Y, Pinto-Plata V, Gochuico BR, Rosas IO, Owen CA.

PLoS One. 2014 May 14;9(5):e97485. doi: 10.1371/journal.pone.0097485. eCollection 2014.

34.

Transforming growth factor-β1 downregulates vascular endothelial growth factor-D expression in human lung fibroblasts via the Jun NH2-terminal kinase signaling pathway.

Cui Y, Osorio JC, Risquez C, Wang H, Shi Y, Gochuico BR, Morse D, Rosas IO, El-Chemaly S.

Mol Med. 2014 Mar 20;20:120-34. doi: 10.2119/molmed.2013.00123.

35.

Nuclear localization of vascular endothelial growth factor-D and regulation of c-Myc-dependent transcripts in human lung fibroblasts.

El-Chemaly S, Pacheco-Rodriguez G, Malide D, Meza-Carmen V, Kato J, Cui Y, Padilla PI, Samidurai A, Gochuico BR, Moss J.

Am J Respir Cell Mol Biol. 2014 Jul;51(1):34-42. doi: 10.1165/rcmb.2013-0417OC.

36.

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR.

Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC.

37.

Syndecan-2 exerts antifibrotic effects by promoting caveolin-1-mediated transforming growth factor-β receptor I internalization and inhibiting transforming growth factor-β1 signaling.

Shi Y, Gochuico BR, Yu G, Tang X, Osorio JC, Fernandez IE, Risquez CF, Patel AS, Shi Y, Wathelet MG, Goodwin AJ, Haspel JA, Ryter SW, Billings EM, Kaminski N, Morse D, Rosas IO.

Am J Respir Crit Care Med. 2013 Oct 1;188(7):831-41. doi: 10.1164/rccm.201303-0434OC.

38.

Glucose transporter-1 distribution in fibrotic lung disease: association with [¹⁸F]-2-fluoro-2-deoxyglucose-PET scan uptake, inflammation, and neovascularization.

El-Chemaly S, Malide D, Yao J, Nathan SD, Rosas IO, Gahl WA, Moss J, Gochuico BR.

Chest. 2013 Jun;143(6):1685-1691. doi: 10.1378/chest.12-1359.

39.

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.

Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

40.

Identification of citrullinated hsp90 isoforms as novel autoantigens in rheumatoid arthritis-associated interstitial lung disease.

Harlow L, Rosas IO, Gochuico BR, Mikuls TR, Dellaripa PF, Oddis CV, Ascherman DP.

Arthritis Rheum. 2013 Apr;65(4):869-79. doi: 10.1002/art.37881.

41.

Hermansky-Pudlak syndrome interstitial pneumonia: it's the epithelium, stupid!

Mahavadi P, Guenther A, Gochuico BR.

Am J Respir Crit Care Med. 2012 Nov 15;186(10):939-40. doi: 10.1164/rccm.201210-1771ED. No abstract available.

42.

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Gochuico BR, Huizing M, Golas GA, Scher CD, Tsokos M, Denver SD, Frei-Jones MJ, Gahl WA.

Mol Med. 2012 Feb 10;18:56-64. doi: 10.2119/molmed.2011.00198.

43.

Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.

Taveira-Dasilva AM, Rabel A, Gochuico BR, Avila NA, Moss J.

Fertil Steril. 2011 Sep;96(3):711-714.e1. doi: 10.1016/j.fertnstert.2011.06.038.

44.

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Dec;131(12):2394-400. doi: 10.1038/jid.2011.228. Epub 2011 Aug 11.

45.

Circulating markers of interstitial lung disease and subsequent risk of lung cancer.

Shiels MS, Chaturvedi AK, Katki HA, Gochuico BR, Caporaso NE, Engels EA.

Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2262-72. doi: 10.1158/1055-9965.EPI-11-0326. Epub 2011 Aug 9.

46.

Automated quantification of high-resolution CT scan findings in individuals at risk for pulmonary fibrosis.

Rosas IO, Yao J, Avila NA, Chow CK, Gahl WA, Gochuico BR.

Chest. 2011 Dec;140(6):1590-1597. doi: 10.1378/chest.10-2545. Epub 2011 May 26.

47.

Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome.

Atochina-Vasserman EN, Bates SR, Zhang P, Abramova H, Zhang Z, Gonzales L, Tao JQ, Gochuico BR, Gahl W, Guo CJ, Gow AJ, Beers MF, Guttentag S.

Am J Respir Crit Care Med. 2011 Aug 15;184(4):449-58. doi: 10.1164/rccm.201011-1882OC.

48.

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA.

Mol Genet Metab. 2011 Jun;103(2):128-34. doi: 10.1016/j.ymgme.2011.02.003. Epub 2011 Mar 21.

49.

The HLA class II Allele DRB1*1501 is over-represented in patients with idiopathic pulmonary fibrosis.

Xue J, Gochuico BR, Alawad AS, Feghali-Bostwick CA, Noth I, Nathan SD, Rosen GD, Rosas IO, Dacic S, Ocak I, Fuhrman CR, Cuenco KT, Smith MA, Jacobs SS, Zeevi A, Morel PA, Pilewski JM, Valentine VG, Gibson KF, Kaminski N, Sciurba FC, Zhang Y, Duncan SR.

PLoS One. 2011 Feb 23;6(2):e14715. doi: 10.1371/journal.pone.0014715.

50.

Erythropoietin-driven proliferation of cells with mutations in the tumor suppressor gene TSC2.

Ikeda Y, Taveira-DaSilva AM, Pacheco-Rodriguez G, Steagall WK, El-Chemaly S, Gochuico BR, May RM, Hathaway OM, Li S, Wang JA, Darling TN, Stylianou M, Moss J.

Am J Physiol Lung Cell Mol Physiol. 2011 Jan;300(1):L64-72. doi: 10.1152/ajplung.00095.2010. Epub 2010 Oct 29.

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