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Quoted phrase not found in phrase index: "Hermansky-Pudlak syndrome 9"
Page 1
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. ...We provide pathogenicity predictions for missense and splice site variants and list variants with high min …
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficie …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 c …
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. P …
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Power B, et al. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. Orphanet J Rare Dis. 2019. PMID: 30791930 Free PMC article.
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1). ...Whole mount transmiss …
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), on …
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K, Teng CH, Hui G, Lin DL. Arcot Sadagopan K, et al. Ophthalmic Genet. 2023 Feb;44(1):54-69. doi: 10.1080/13816810.2022.2135109. Epub 2022 Oct 31. Ophthalmic Genet. 2023. PMID: 36316991
There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA. MATERIALS AND METHODS: In a prospective consecutive case series, 63 patients (less than 18 years old) with a molecular genet …
There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non …
Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI. Shen MW, et al. Nature. 2018 Nov;563(7733):646-651. doi: 10.1038/s41586-018-0686-x. Epub 2018 Nov 7. Nature. 2018. PMID: 30405244 Free PMC article.
Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene disruption. Here, we show that template-free Cas9 editing is predictable and capable of precise repair to a predicted genotype, …
Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene d …
Change in visual acuity in albinism in the early school years.
Dijkstal JM, Cooley SS, Holleschau AM, King RA, Summers CG. Dijkstal JM, et al. J Pediatr Ophthalmol Strabismus. 2012 Mar-Apr;49(2):81-6; quiz 87. doi: 10.3928/01913913-20110628-02. Epub 2011 Jul 6. J Pediatr Ophthalmol Strabismus. 2012. PMID: 21732575
PURPOSE: To determine whether binocular best-corrected visual acuity (B-BCVA) improves in the early school years in patients with albinism and whether this is related to type of albinism, ocular pigment, or appearance of the macula. METHODS: Patients with albinism seen between 5. …
PURPOSE: To determine whether binocular best-corrected visual acuity (B-BCVA) improves in the early school years in patients with albinism a …
Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.
Moriyama K, Bonifacino JS. Moriyama K, et al. Traffic. 2002 Sep;3(9):666-77. doi: 10.1034/j.1600-0854.2002.30908.x. Traffic. 2002. PMID: 12191018 Free article.
The Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defective lysosome-related organelles such as melanosomes and platelet dense bodies. Hermansky-Pudlak syndrome can be caused by mutations of at least four …
The Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defective lysosome-related organell …
Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.
Mao GF, Goldfinger LE, Fan DC, Lambert MP, Jalagadugula G, Freishtat R, Rao AK. Mao GF, et al. J Thromb Haemost. 2017 Apr;15(4):792-801. doi: 10.1111/jth.13619. Epub 2017 Feb 23. J Thromb Haemost. 2017. PMID: 28075530 Free PMC article.
Platelet mRNA expression profiling in a patient previously reported by us with a RUNX1 mutation and platelet dysfunction showed decreased expression of PLDN (BLOC1S6), which encodes pallidin, a subunit of biogenesis of lysosome-related organelles complex-1 (BLOC-1) involved in DG …
Platelet mRNA expression profiling in a patient previously reported by us with a RUNX1 mutation and platelet dysfunction showed decreased ex …
rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.
Sagai T, Koide T, Endo M, Tanoue K, Kikkawa Y, Yonekawa H, Ishiguro S, Tamai M, Matsuda Y, Wakana S, Shiroishi T. Sagai T, et al. Mamm Genome. 1998 Jan;9(1):2-7. doi: 10.1007/s003359900670. Mamm Genome. 1998. PMID: 9434937
The pearl mutant is known to have abnormalities similar to Hermansky-Pudlak syndrome (HPS), a human hemorrhagic disorder, characterized by albinism and storage pool deficiency (SPD) of dense granules in platelets. A mating cross of C57BL10/Slc-rim2/rim2 and C …
The pearl mutant is known to have abnormalities similar to Hermansky-Pudlak syndrome (HPS), a human hemorrhagic disorde …
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
Boissy RE, Zhao Y, Gahl WA. Boissy RE, et al. Lab Invest. 1998 Sep;78(9):1037-48. Lab Invest. 1998. PMID: 9759648
Patients with Hermansky-Pudlak syndrome (HPS) exhibit moderate to mild hypopigmentation of the skin, hair, and eyes. ...For both proteins, HPS melanocytes exhibited a large granular pattern of expression throughout the cell, which seems to correlate with the …
Patients with Hermansky-Pudlak syndrome (HPS) exhibit moderate to mild hypopigmentation of the skin, hair, and eyes. .. …
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