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Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish.
Iwanami N, Ozaki Y, Sakaguchi H, Watanabe Y, Meng Q, Matsumoto K, Suzuki T, Hitomi K, Matsuda M. Iwanami N, et al. G3 (Bethesda). 2022 Sep 30;12(10):jkac204. doi: 10.1093/g3journal/jkac204. G3 (Bethesda). 2022. PMID: 35944207 Free PMC article.
However, the function of hps1 in other species remains poorly understood. In this study, we discovered albino medaka fish during the maintenance of a wild-derived population and identified hps1 as the responsible gene using positional cloning. In addition to the spe …
However, the function of hps1 in other species remains poorly understood. In this study, we discovered albino medaka fish during the …
The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
We propose the following retinal pigmentation pathway, with increasingly specific genetic and cellular defects causing an increasingly specific ocular phenotype: (HPS1-11/CHS: syndromic forms of albinism)-(OCA1-8: OCA)-(GPR143: OA1)-(SLC38A8: FHONDA). Beyond disease …
We propose the following retinal pigmentation pathway, with increasingly specific genetic and cellular defects causing an increasingly speci …
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.
O'Brien KJ, Parisi X, Shelman NR, Merideth MA, Introne WJ, Heller T, Gahl WA, Malicdan MCV, Gochuico BR. O'Brien KJ, et al. J Intern Med. 2021 Jul;290(1):129-140. doi: 10.1111/joim.13224. Epub 2021 Jan 10. J Intern Med. 2021. PMID: 33423334 Free article.
BACKGROUND: Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, could provide insights into IBD in general. ...Genotypin …
BACKGROUND: Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky-Pudlak syndrome (HPS), a rare autosomal reces …
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA. Bobreshova AM, et al. Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260. Int J Mol Sci. 2024. PMID: 39457042 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. ...Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described gen …
Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. …
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S. Suezawa T, et al. Respir Res. 2021 Nov 4;22(1):284. doi: 10.1186/s12931-021-01877-8. Respir Res. 2021. PMID: 34736469 Free PMC article.
Proteomic analysis of AOs involving iPSC-derived AT2 cells and primary lung fibroblasts revealed mitochondrial dysfunction in HPS1 patient-specific alveolar epithelial cells. Further, giant lamellar bodies were recapitulated in patient-specific AT2 cells. CONCLUSIONS: The …
Proteomic analysis of AOs involving iPSC-derived AT2 cells and primary lung fibroblasts revealed mitochondrial dysfunction in HPS1 pa …
A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G. Lansdon LA, et al. Cold Spring Harb Mol Case Stud. 2021 Oct 19;7(5):a006110. doi: 10.1101/mcs.a006110. Print 2021 Oct. Cold Spring Harb Mol Case Stud. 2021. PMID: 34362826 Free PMC article.
(Met325HisfsTer128), and a variant of uncertain significance, c.1846G>A p.(Glu616Lys), in HPS1 To determine whether his phenotype was consistent with HPS, follow-up studies of whole blood lumiaggregometry and platelet transmission electron microscopy were performed that …
(Met325HisfsTer128), and a variant of uncertain significance, c.1846G>A p.(Glu616Lys), in HPS1 To determine whether his phenotype …
Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.
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. Wang JY, et al. JCI Insight. 2024 Dec 19;10(3):e183483. doi: 10.1172/jci.insight.183483. JCI Insight. 2024. PMID: 39699958 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a genetic disorder of endosomal protein trafficking associated with pulmonary fibrosis in specific subtypes, including HPS-1 and HPS-2. Single-mutant HPS1 and HPS2 mice display increased fibrotic sensitivity while double-mutant HPS1 …
Hermansky-Pudlak syndrome (HPS) is a genetic disorder of endosomal protein trafficking associated with pulmonary fibrosis in specific subtyp …
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.
Dobhal V, Kumar A, Garg I, Kumar A, Goel F. Dobhal V, et al. Neurogenetics. 2025 Jun 18;26(1):50. doi: 10.1007/s10048-025-00830-x. Neurogenetics. 2025. PMID: 40531243 Review.
Genes that are majorly involved in different types of oculocutaneous albinism (OCA) are the TYR, MATP, SLC24A5, TYRP1, and SLCA5A2. Also, gene sequences LYST and HPS1 account for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome, respectively, which have clinical symp …
Genes that are majorly involved in different types of oculocutaneous albinism (OCA) are the TYR, MATP, SLC24A5, TYRP1, and SLCA5A2. Also, ge …
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. Wang C, et al. Eur J Med Genet. 2021 Jun;64(6):104228. doi: 10.1016/j.ejmg.2021.104228. Epub 2021 Apr 18. Eur J Med Genet. 2021. PMID: 33878481
(Asp427Glyfs*27) and c.875_878delACAG p.(Asp292Alafs*38) in HPS1 and c.1999C>T p.(Arg667*), c.335G>A p.(W112*), and c.1732C>T p.(R578*) in HPS6] were identified by next-generation sequencing. ...
(Asp427Glyfs*27) and c.875_878delACAG p.(Asp292Alafs*38) in HPS1 and c.1999C>T p.(Arg667*), c.335G>A p.(W112*), and c.1732C> …
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL. Serrano-González J, et al. Mol Genet Genomic Med. 2024 Jul;12(7):e2493. doi: 10.1002/mgg3.2493. Mol Genet Genomic Med. 2024. PMID: 38994739 Free PMC article.
Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. ...CONCLUSION: Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especi …
Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the t …
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