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Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA. Introne WJ, et al. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301464 Free Books & Documents. Review.
Identification of biallelic pathogenic variants in AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, or HPS6 confirms the diagnosis if clinical features are inconclusive. ...Agents/circumstances to avoid: Over-the-counter nonsteroidal anti-inf …
Identification of biallelic pathogenic variants in AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, or HPS …
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. Di Pietro SM, et al. Traffic. 2004 Apr;5(4):276-83. doi: 10.1111/j.1600-0854.2004.0171.x. Traffic. 2004. PMID: 15030569 Free article.
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding due to defects in the lysosome-related organelles, melanosomes and platelet-dense granules, respectively. Most HPS genes, including HPS …
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged blee …
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K, Suzuki T. Okamura K, et al. Pigment Cell Melanoma Res. 2021 Mar;34(2):190-203. doi: 10.1111/pcmr.12927. Epub 2020 Oct 7. Pigment Cell Melanoma Res. 2021. PMID: 32969595 Review.
Further, rare OCA subtypes, including OCA3, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9, have also been identified in Japanese patients. ...
Further, rare OCA subtypes, including OCA3, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9, have also been identified in Japanese pati …
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Stephen J, et al. PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PLoS One. 2017. PMID: 28296950 Free PMC article.
Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the p …
Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins th …
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.
Daly CM, Willer J, Gregg R, Gross JM. Daly CM, et al. Genetics. 2013 Oct;195(2):481-94. doi: 10.1534/genetics.113.154898. Epub 2013 Jul 26. Genetics. 2013. PMID: 23893484 Free PMC article.
Here, we characterize ocular defects in the zebrafish (Danio rerio) mutant snow white (snw), which possesses a recessive, missense mutation in hps5 (hps5I76N). Melanosome biogenesis is disrupted in snw/hps5 mutants, resulting in hypopigmentation, a significant decre …
Here, we characterize ocular defects in the zebrafish (Danio rerio) mutant snow white (snw), which possesses a recessive, missense mutation …
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT. Gautam R, et al. J Biol Chem. 2004 Mar 26;279(13):12935-42. doi: 10.1074/jbc.M311311200. Epub 2004 Jan 12. J Biol Chem. 2004. PMID: 14718540 Free article.
These three genes encode novel proteins of unknown function. The phenotypes of Hps5/Hps5,Hps6/Hps6 and Hps3/Hps3,Hps6/Hps6 double mutant mice mimic, in coat and eye colors, in melanosome ultrastructure, and in levels of platelet dense gra …
These three genes encode novel proteins of unknown function. The phenotypes of Hps5/Hps5,Hps6/Hps6 and Hps3/Hps3 …
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y, Zhou C, Xie H, Huang S, Wang J, Liu S. Xiao Y, et al. BMC Genomics. 2022 Apr 29;23(1):332. doi: 10.1186/s12864-022-08597-3. BMC Genomics. 2022. PMID: 35488210 Free PMC article.
RESULTS: We used a skin disease-targeted panel to sequence more than 400 genes, including 23 genes (TYR, OCA2, AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MITF, MLPH, MYO5A, RAB27A, SLC24A5, SLC45A2, TYRP1) ass …
RESULTS: We used a skin disease-targeted panel to sequence more than 400 genes, including 23 genes (TYR, OCA2, AP3B1, BLOC1S3, BLOC1S6, C10o …
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.
Hirobe T, Yoshihara C, Takeuchi S, Wakamatsu K, Ito S, Abe H, Kawa Y, Soma Y. Hirobe T, et al. Zoolog Sci. 2011 Nov;28(11):790-801. doi: 10.2108/zsj.28.790. Zoolog Sci. 2011. PMID: 22035301
In our laboratory, a single autosomal recessive mutation in a phenotype similar to ruby-eye (ru/Hps6(ru)) or ruby-eye 2 (ru2/Hps5(ru2)) spontaneously occurred in siblings of C57BL/10JHir (+/+, black) mice in 2006. RT-PCR analysis revealed that this novel mutation, n …
In our laboratory, a single autosomal recessive mutation in a phenotype similar to ruby-eye (ru/Hps6(ru)) or ruby-eye 2 (ru2/Hps5 …
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.
Westmoreland D, Shaw M, Grimes W, Metcalf DJ, Burden JJ, Gomez K, Knight AE, Cutler DF. Westmoreland D, et al. J Thromb Haemost. 2016 Apr;14(4):839-49. doi: 10.1111/jth.13269. Epub 2016 Mar 17. J Thromb Haemost. 2016. PMID: 26806224 Free PMC article.
METHODS: Blood samples were taken from three patients with Hermansky-Pudlak syndrome and seven controls. Patients 1-3 have gene defects in HPS1, HPS6 and HPS5, respectively; all controls were healthy volunteers. ...
METHODS: Blood samples were taken from three patients with Hermansky-Pudlak syndrome and seven controls. Patients 1-3 have gene defects in H …
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A. Stanescu H, et al. Ann Hum Genet. 2009 Jul;73(Pt 4):422-8. doi: 10.1111/j.1469-1809.2009.00525.x. Ann Hum Genet. 2009. PMID: 19523149 Free PMC article.
Certain HPS proteins combine to form Biogenesis of Lysosome-related Organelles Complexes (BLOCs), thought to function in the formation of intracellular vesicles such as melanosomes, platelet dense bodies, and lytic granules. Specifically, BLOC-2 contains the HPS3, HPS5 and …
Certain HPS proteins combine to form Biogenesis of Lysosome-related Organelles Complexes (BLOCs), thought to function in the formation of in …
23 results