HPS6 Regulates the Biogenesis of Weibel-Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane. PMID: 35252216
Hermansky-Pudlak Syndrome. PMID: 20301464
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. PMID: 25189619
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. PMID: 27225848
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism. PMID: 35054407
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. PMID: 27889498
Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. PMID: 33878481
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. PMID: 27641950
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism. PMID: 33808351
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. PMID: 15030569
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. PMID: 30369044
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). PMID: 14718540
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. PMID: 27917594
Current landscape of Oculocutaneous Albinism in Japan. PMID: 32969595
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. PMID: 19843503
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. PMID: 26823395
Hermansky-Pudlak Syndrome: Spectrum in Oman. PMID: 36162005
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. PMID: 25593336
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. PMID: 16420244
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. PMID: 19523149
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. PMID: 23893484
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. PMID: 32725903
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. PMID: 27595926
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. PMID: 33423334
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. PMID: 35488210
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PMID: 28296950
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. PMID: 28976636
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. PMID: 30387913
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. PMID: 26008744
Targeting protein-trafficking pathways alters melanoma treatment sensitivity. PMID: 22203954
Exosomal RNA Expression Profiles and Their Prediction Performance in Patients With Gestational Diabetes Mellitus and Macrosomia. PMID: 35547007
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. PMID: 33513603
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. PMID: 30990103
VWF maturation and release are controlled by 2 regulators of Weibel-Palade body biogenesis: exocyst and BLOC-2. PMID: 32614949
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. PMID: 26806224
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. PMID: 27593200
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. PMID: 17041891
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. PMID: 23364476
Three studies on self-report scales to detect bipolar disorder. PMID: 20696479
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. PMID: 28640947
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. PMID: 20378731
MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac. PMID: 35847575
Gene expression analysis using DNA microarray in HK-2 human proximal tubular cells treated with cadmium. PMID: 24284285
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. PMID: 31141302
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. PMID: 30710063
Differentially expressed genes strongly correlated with femur strength in rats. PMID: 19482074
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. PMID: 29054114
Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PMID: 22984402
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. PMID: 21045126
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. PMID: 31249973
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. PMID: 30947698
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. PMID: 12756248
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. PMID: 31619213
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. PMID: 22035301
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. PMID: 21665000
Hypoxic transcription gene profiles under the modulation of nitric oxide in nuclear run on-microarray and proteomics. PMID: 19725949
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. PMID: 21392365
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. PMID: 15108212
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. PMID: 15265785
1,5-Lactamized sialyl acceptors for various disialoside syntheses: novel method for the synthesis of glycan portions of Hp-s6 and HLG-2 gangliosides. PMID: 16187391
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome., PMID:39457042
HPS6 Deficiency Leads to Reduced Vacuolar-Type H+-ATPase and Impaired Biogenesis of Lamellar Bodies in Alveolar Type II Cells., PMID:38864759
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants., PMID:38091959
Generation of translucent Xenopus tropicalis through triple knockout of pigmentation genes., PMID:37750430
MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac., PMID:35847575
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism., PMID:35488210
HPS6 Regulates the Biogenesis of Weibel-Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane., PMID:35252216
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism., PMID:35054407
Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6., PMID:33878481
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules., PMID:33513603
Current landscape of Oculocutaneous Albinism in Japan., PMID:32969595
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients., PMID:32725903
VWF maturation and release are controlled by 2 regulators of Weibel-Palade body biogenesis: exocyst and BLOC-2., PMID:32614949
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report., PMID:31619213
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families., PMID:30947698
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids., PMID:30710063
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome., PMID:30387913
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant., PMID:30369044
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS., PMID:28640947
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5., PMID:28296950
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome., PMID:27917594
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells., PMID:27889498
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism., PMID:27641950
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients., PMID:27593200
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development., PMID:27595926
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism., PMID:27225848
The ophthalmic presentation of Hermansky-Pudlak syndrome 6., PMID:26823395
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders., PMID:26806224
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery., PMID:26008744
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome., PMID:25593336
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes., PMID:25189619
Gene expression analysis using DNA microarray in HK-2 human proximal tubular cells treated with cadmium., PMID:24284285
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5., PMID:23893484
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism., PMID:23364476
Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis., PMID:22984402
Targeting protein-trafficking pathways alters melanoma treatment sensitivity., PMID:22203954
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine., PMID:22035301
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9., PMID:21665000
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation., PMID:21392365
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells., PMID:21045126
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia., PMID:20378731
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6., PMID:19843503
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting., PMID:19523149
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics., PMID:17041891
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function., PMID:16420244
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex., PMID:15265785
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis., PMID:15108212
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6., PMID:15030569
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)., PMID:14718540
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4., PMID:12756248
For research use only. Not for human or drug use.
