Results 61 to 70 of about 291 (129)

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

Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies. [PDF]

IUBMB Life
Tondi F, Cirsmaru RA, Conti C, Follenzi A, Gresele P, Olgasi C, Bury L.   +6 more
europepmc   +1 more source

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. [PDF]

Hum Genet, 2023
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T.   +16 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

Genetic variants associated with Hermansky-Pudlak syndrome. [PDF]

Platelets, 2020
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR.   +5 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

Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis. [PDF]

Commun Biol
Banaschewski BJH, Michki SN, Sitaraman S, Pan R, Wang JY, Stewart D, Goldy MK, Lin SM, Cantu E, Katzen JB, Basil MC, Emtiazjoo AM, Todd JL, Gokey JJ, Kropski JA, Frank DB, Zepp JA, Young LR.   +17 more
europepmc   +1 more source

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]

BMC Ophthalmol
Khan J, Asif S, Ghani S, Khan H, Arshad MW, Khan SA, Lin S, Baple EL, Salter C, Crosby AH, Rawlins L, Shabbir MI.   +11 more
europepmc   +1 more source