| 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 2 Cases and the Profile of HPS6 Variants.
Zhou B, Yang J, Bai Y, Li Y, Chen S, Chen X, Zhang N, Cao Z, Zhu Y, Xu Y. | 02/13/2024 |
| Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. | Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R, Kong X. | 08/7/2021 |
| we report a novel homozygous c.383 T > C missense variant in HPS6 associated with low cellular levels of HPS6 mRNA and protein in an individual with subclinical oculocutaneous albinism and a history of severe bleeding | Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR., Free PMC Article | 11/2/2019 |
| Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6 | Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR., Free PMC Article | 11/26/2017 |
| the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. | A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Andres O, Wiegering V, König EM, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H. | 07/1/2017 |
| Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. | The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT. | 05/20/2017 |
| we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES. | Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N. | 04/8/2017 |
| HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes | HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Li K, Yang L, Zhang C, Niu Y, Li W, Liu JJ. | 09/5/2015 |
| Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment. | Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
Huang ZM, Chinen M, Chang PJ, Xie T, Zhong L, Demetriou S, Patel MP, Scherzer R, Sviderskaya EV, Bennett DC, Millhauser GL, Oh DH, Cleaver JE, Wei ML., Free PMC Article | 03/17/2012 |
| Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region. | Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA., Free PMC Article | 03/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A., Free PMC Article | 12/2/2009 |
| Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. | Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC. | 01/21/2010 |