Results 81 to 90 of about 1,230,655 (143)

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. [PDF]

Mol Genet Genomic Med
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL.   +4 more
europepmc   +1 more source

Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report. [PDF]

BMC Pulm Med, 2020
Kato Y, Kato M, Ihara H, Hayakawa E, Shibayama K, Miura K, Yamada T, Mitsuishi Y, Shukuya T, Ito J, Matsunaga T, Sato T, Suzuki K, Takahashi K.   +13 more
europepmc   +1 more source

Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. [PDF]

Respir Res, 2021
Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S.   +7 more
europepmc   +1 more source

CB₁ R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome. [PDF]

Clin Transl Med, 2021
Cinar R, Park JK, Zawatsky CN, Coffey NJ, Bodine SP, Abdalla J, Yokoyama T, Jourdan T, Jay L, Zuo MXG, O'Brien KJ, Huang J, Mackie K, Alimardanov A, Iyer MR, Gahl WA, Kunos G, Gochuico BR, Malicdan MCV.   +18 more
europepmc   +1 more source

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9). [PDF]

BMC Genomics
Kahani SM, Saray AR, Kahaei MS, Dehghani A, Mohammadi P, Garshasbi M.   +5 more
europepmc   +1 more source

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. [PDF]

Respir Res, 2021
Cuevas-Mora K, Roque W, Shaghaghi H, Gochuico BR, Rosas IO, Summer R, Romero F.   +6 more
europepmc   +1 more source

Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome. [PDF]

JCI Insight
Wang JY, Michki SN, Sitaraman S, Banaschewski BJ, Jamal R, Gokey JJ, Lin SM, Katzen JB, Basil MC, Cantu E, Kropski JA, Zepp JA, Frank DB, Young LR.   +13 more
europepmc   +1 more source

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model. [PDF]

FEBS Lett
Maynard DM, Gochuico BR, Pri Chen H, Bleck CKE, Zerfas PM, Introne WJ, Gahl WA, Malicdan MCV.   +7 more
europepmc   +1 more source

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome. [PDF]

JCI Insight
Sorkhdini P, Klubock-Shukla K, Sheth S, Yang D, Yang AX, Norbrun C, Introne WJ, Gochuico BR, Zhou Y.   +8 more
europepmc   +1 more source

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome. [PDF]

Nat Commun
Yong X, Jia G, Yang Q, Zhou C, Zhang S, Deng H, Billadeau DD, Su Z, Jia D.   +8 more
europepmc   +1 more source