217 related articles for article (PubMed ID: 29190429)
41. 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]
42. Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
Gil-Krzewska A; Murakami Y; Peruzzi G; O'Brien KJ; Merideth MA; Cullinane AR; Gahl WA; Coligan JE; Gochuico BR; Krzewski K
Br J Haematol; 2017 Jan; 176(1):118-123. PubMed ID: 27766632
[TBL] [Abstract][Full Text] [Related]
43. A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR/Cas9.
Sui T; Lau YS; Liu D; Liu T; Xu L; Gao Y; Lai L; Li Z; Han R
Dis Model Mech; 2018 Jun; 11(6):. PubMed ID: 29871865
[TBL] [Abstract][Full Text] [Related]
44. Fgf10-CRISPR mosaic mutants demonstrate the gene dose-related loss of the accessory lobe and decrease in the number of alveolar type 2 epithelial cells in mouse lung.
Habuta M; Yasue A; Suzuki KT; Fujita H; Sato K; Kono H; Takayama A; Bando T; Miyaishi S; Oyadomari S; Tanaka E; Ohuchi H
PLoS One; 2020; 15(10):e0240333. PubMed ID: 33057360
[TBL] [Abstract][Full Text] [Related]
45. Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
Aguilar A; Weber J; Boscher J; Freund M; Ziessel C; Eckly A; Magnenat S; Bourdon C; Hechler B; Mangin PH; Gachet C; Lanza F; Léon C
Blood Adv; 2019 Aug; 3(15):2368-2380. PubMed ID: 31399401
[TBL] [Abstract][Full Text] [Related]
46. Off- and on-target effects of genome editing in mouse embryos.
Ayabe S; Nakashima K; Yoshiki A
J Reprod Dev; 2019 Feb; 65(1):1-5. PubMed ID: 30518723
[TBL] [Abstract][Full Text] [Related]
47. Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells.
Zhang L; Yu K; Robert KW; DeBolt KM; Hong N; Tao JQ; Fukuda M; Fisher AB; Huang S
Am J Physiol Lung Cell Mol Physiol; 2011 Oct; 301(4):L461-77. PubMed ID: 21764986
[TBL] [Abstract][Full Text] [Related]
48. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Bryan MM; Tolman NJ; Simon KL; Huizing M; Hufnagel RB; Brooks BP; Speransky V; Mullikin JC; Gahl WA; Malicdan MCV; Gochuico BR
Mol Genet Metab; 2017 Apr; 120(4):378-383. PubMed ID: 28259707
[TBL] [Abstract][Full Text] [Related]
49. Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus?
Mitsui H; Komine M; Watanabe T; Kikuchi K; Okochi H; Tamaki K
Br J Dermatol; 2002 May; 146(5):908-11. PubMed ID: 12000395
[TBL] [Abstract][Full Text] [Related]
50. Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
Maguire JA; Lu L; Mills JA; Sullivan LM; Gagne A; Gadue P; French DL
Stem Cell Res; 2016 Mar; 16(2):233-5. PubMed ID: 27345974
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. Hermansky-Pudlak syndrome with a novel mutation.
Iwakawa J; Matsuyama W; Watanabe M; Yamamoto M; Oonakahara K; Machida K; Higashimoto I; Niiyama T; Osame M; Arimura K
Intern Med; 2005 Jul; 44(7):733-8. PubMed ID: 16093596
[TBL] [Abstract][Full Text] [Related]
53. Hermansky-Pudlak syndrome with a novel genetic variant in
McElvaney OJ; Huizing M; Gahl WA; O'Donovan P; Horan D; Logan PM; Reeves EP; McElvaney NG
Thorax; 2018 Nov; 73(11):1085-1088. PubMed ID: 29941477
[TBL] [Abstract][Full Text] [Related]
54. Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.
Summer R; Krishna R; Schriner D; Cuevas-Mora K; Sales D; Para R; Roman J; Nieweld C; Gochuico BR; Romero F
Orphanet J Rare Dis; 2019 Jul; 14(1):162. PubMed ID: 31272455
[TBL] [Abstract][Full Text] [Related]
55. 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]
56. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
Botero JP; Chen D; Majerus JA; Coon LM; He R; Warad DM; Pruthi RK; Nichols WL
Platelets; 2018 Jan; 29(1):91-94. PubMed ID: 29090612
[TBL] [Abstract][Full Text] [Related]
57. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Hermos CR; Huizing M; Kaiser-Kupfer MI; Gahl WA
Hum Mutat; 2002 Dec; 20(6):482. PubMed ID: 12442288
[TBL] [Abstract][Full Text] [Related]
58. Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice.
Yoshioka Y; Kumasaka T; Ishidoh K; Kominami E; Mitani K; Hosokawa Y; Fukuchi Y
Pathol Int; 2004 May; 54(5):322-31. PubMed ID: 15086836
[TBL] [Abstract][Full Text] [Related]
59. Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.
Zhou Y; He CH; Yang DS; Nguyen T; Cao Y; Kamle S; Lee CM; Gochuico BR; Gahl WA; Shea BS; Lee CG; Elias JA
J Immunol; 2018 Mar; 200(6):2140-2153. PubMed ID: 29427412
[TBL] [Abstract][Full Text] [Related]
60. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Cullinane AR; Curry JA; Golas G; Pan J; Carmona-Rivera C; Hess RA; White JG; Huizing M; Gahl WA
Pigment Cell Melanoma Res; 2012 Sep; 25(5):584-91. PubMed ID: 22709368
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
