• A case of Hermansky-Pudlak with dyspnea
• A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
• A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption
• A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome
• A Novel Likely Pathogenic Variant in the <em>BLOC1S5</em> Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
• A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
• A Role of Phosphatidylserine in the Function of Recycling Endosomes
• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• Albinism
• Albinism
• Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome
• Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
• AP-3 adaptor complex-mediated vesicle trafficking
• AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)
• AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells
• Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease
• Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens
• Biogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex
• Case series on Silvery Hair Syndromes: Single Center Experience
• CB(1) R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome
• CB₁ R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome
• Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
• Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series
• Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome
• Clinical phenocopies of albinism
• Depigmented Fundus and Fovea Plana in Hermansky-Pudlak Syndrome
• Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3
• Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review
• Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population
• Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses
• Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome pulmonary fibrosis
• Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility
• Early ophthalmic findings in Hermansky-Pudlak syndrome type 9
• Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs
• Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish
• Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
• Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1
• Generation of translucent Xenopus tropicalis through triple knockout of pigmentation genes
• Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
• Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
• Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse
• Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study
• GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome presenting with paranoid delusion
• Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism
• Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder
• Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study
• Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
• Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report
• Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression
• Hermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding
• Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease
• Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6
• Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
• Hermansky-Pudlak Syndrome: Identification of <em>Novel</em> Variants in the Genes <em>HPS3</em>, <em>HPS5,</em> and <em>DTNBP1</em> (HPS-7)
• Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
• Hermansky-Pudlak Syndrome: Spectrum in Oman
• High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis
• HPS6 Deficiency Leads to Reduced V-ATPase and Impaired Biogenesis of Lamellar Bodies in Alveolar Type II Cells
• HPS6 Regulates the Biogenesis of Weibel-Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane
• Human platelets contain a pool of free zinc in dense granules
• In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis
• Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
• ISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function disorders
• Long-term nintedanib treatment for progressive pulmonary fibrosis associated with Hermansky-Pudlak syndrome type 1 followed by lung transplantation
• Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience
• Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs
• Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
• New insights into the pathogenesis of Hermansky-Pudlak syndrome
• Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease
• Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants
• Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants
• Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
• Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the <em>HPS3</em> gene
• Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders
• Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age
• Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
• Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome
• Pulmonary phenotypes of inborn errors of metabolism
• Recurrent Perianal Abscess in a Patient With Hermansky-Pudlak Syndrome Associated Granulomatous Colitis: A Case Report
• Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome-associated granulomatous colitis: a case report
• Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
• Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes
• Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
• State-of-the-art in respiratory disease research using respiratory organoids
• Successful treatment of pulmonary hypertension with macitentan in a patient with Hermansky-Pudlak syndrome
• Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
• The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis
• The Microscopy-Based Assay to Study and Analyze the Recycling Endosomes using SNARE Trafficking
• The retinal pigmentation pathway in human albinism: Not so black and white
• The unprecedented intersection: Hermansky-Pudlak syndrome and rheumatic mitral stenosis
• Thromboxane-Prostanoid Receptor Signaling Drives Persistent Fibroblast Activation in Pulmonary Fibrosis
• Two Novel Homozygous <em>HPS6</em> Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism
• Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of <em>DTNBP1</em> variants
• Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants
• Vtc5 Is Localized to the Vacuole Membrane by the Conserved AP-3 Complex to Regulate Polyphosphate Synthesis in Budding Yeast
• Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <em>HPS3</em> in a Consanguineous Family with Hermansky-Pudlak Syndrome
• Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
• Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans