171 related articles for article (PubMed ID: 22709368)
41. Hermansky-Pudlak Syndrome.
De Jesus Rojas W; Young LR
Semin Respir Crit Care Med; 2020 Apr; 41(2):238-246. PubMed ID: 32279294
[TBL] [Abstract][Full Text] [Related]
42. Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
Sánchez-Guiu I; Torregrosa JM; Velasco F; Antón AI; Lozano ML; Vicente V; Rivera J
Hamostaseologie; 2014; 34(4):301-9. PubMed ID: 25117010
[TBL] [Abstract][Full Text] [Related]
43. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S; Suzuki T; Inagaki K; Suzuki N; Takamori K; Yamada T; Nakazawa M; Hatano M; Takiwaki H; Kakuta Y; Spritz RA; Tomita Y
J Invest Dermatol; 2005 Oct; 125(4):715-20. PubMed ID: 16185271
[TBL] [Abstract][Full Text] [Related]
44. 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
Traffic; 2004 Apr; 5(4):276-83. PubMed ID: 15030569
[TBL] [Abstract][Full Text] [Related]
45. Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
Meng R; Wu J; Harper DC; Wang Y; Kowalska MA; Abrams CS; Brass LF; Poncz M; Stalker TJ; Marks MS
Blood; 2015 Mar; 125(10):1623-32. PubMed ID: 25477496
[TBL] [Abstract][Full Text] [Related]
46. The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.
Liu T; Yuan Y; Bai D; Yao X; Zhang T; Huang Q; Qi Z; Yang L; Yang X; Li W; Wei A
J Dermatol; 2021 May; 48(5):676-680. PubMed ID: 33543539
[TBL] [Abstract][Full Text] [Related]
47. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
Falcón-Pérez JM; Romero-Calderón R; Brooks ES; Krantz DE; Dell'Angelica EC
Traffic; 2007 Feb; 8(2):154-68. PubMed ID: 17156100
[TBL] [Abstract][Full Text] [Related]
48. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Rachel RA; Nagashima K; O'Sullivan TN; Frost LS; Stefano FP; Marigo V; Boesze-Battaglia K
PLoS One; 2012; 7(9):e42446. PubMed ID: 22984402
[TBL] [Abstract][Full Text] [Related]
49. Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
Gautam R; Novak EK; Tan J; Wakamatsu K; Ito S; Swank RT
Traffic; 2006 Jul; 7(7):779-92. PubMed ID: 16787394
[TBL] [Abstract][Full Text] [Related]
50. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
Doubková M; Trizuljak J; Vrzalová Z; Hrazdirová A; Blaháková I; Radová L; Pospíšilová Š; Doubek M
BMC Pulm Med; 2019 Oct; 19(1):178. PubMed ID: 31619213
[TBL] [Abstract][Full Text] [Related]
51. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Loredana Asztalos M; Schafernak KT; Gray J; Berry A; Paller AS; Mancini AJ
Pediatr Dermatol; 2017 Nov; 34(6):638-646. PubMed ID: 29044644
[TBL] [Abstract][Full Text] [Related]
52. 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
Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
[TBL] [Abstract][Full Text] [Related]
53. Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.
Zhou Y; He CH; Herzog EL; Peng X; Lee CM; Nguyen TH; Gulati M; Gochuico BR; Gahl WA; Slade ML; Lee CG; Elias JA
J Clin Invest; 2015 Aug; 125(8):3178-92. PubMed ID: 26121745
[TBL] [Abstract][Full Text] [Related]
54. Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.
Okamura K; Abe Y; Araki Y; Wakamatsu K; Seishima M; Umetsu T; Kato A; Kawaguchi M; Hayashi M; Hozumi Y; Suzuki T
Pigment Cell Melanoma Res; 2018 Mar; 31(2):267-276. PubMed ID: 29054114
[TBL] [Abstract][Full Text] [Related]
55. 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
Eur J Med Genet; 2021 Jun; 64(6):104228. PubMed ID: 33878481
[TBL] [Abstract][Full Text] [Related]
56. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
Huizing M; Gahl WA
Curr Mol Med; 2002 Aug; 2(5):451-67. PubMed ID: 12125811
[TBL] [Abstract][Full Text] [Related]
57. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
Sandrock K; Bartsch I; Rombach N; Schmidt K; Nakamura L; Hainmann I; Busse A; Zieger B
Klin Padiatr; 2010 May; 222(3):168-74. PubMed ID: 20514622
[TBL] [Abstract][Full Text] [Related]
58. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
Gerondopoulos A; Langemeyer L; Liang JR; Linford A; Barr FA
Curr Biol; 2012 Nov; 22(22):2135-9. PubMed ID: 23084991
[TBL] [Abstract][Full Text] [Related]
59. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Anikster Y; Huizing M; White J; Shevchenko YO; Fitzpatrick DL; Touchman JW; Compton JG; Bale SJ; Swank RT; Gahl WA; Toro JR
Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388
[TBL] [Abstract][Full Text] [Related]
60. Hypopigmentation in Hermansky-Pudlak syndrome.
Wei AH; He X; Li W
J Dermatol; 2013 May; 40(5):325-9. PubMed ID: 23668540
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
