Associated Papers
Molecular genetics of idiopathic pulmonary fibrosis.
Mustafin RN
Vavilovskii Zhurnal Genetiki I Selektsii, 2022
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Chen J et al.
Frontiers in Pediatrics, 2022
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M et al.
Human Mutation, 2017
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B et al.
Blood, 2013
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.
Gochuico BR et al.
Molecular Medicine (cambridge, Mass.), 2012
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A et al.
Blood, 2006
Innate immunity defects in Hermansky-Pudlak type 2 syndrome.
Fontana S et al.
Blood, 2006
Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals.
Ohno H
Journal of Biochemistry, 2006
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.
Richmond B et al.
The Journal of Investigative Dermatology, 2005
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.
Clark RH et al.
Nature Immunology, 2003
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M et al.
Traffic (copenhagen, Denmark), 2000
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
Dell'Angelica EC et al.
Molecular Cell, 1999
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