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Results: 1 to 20 of 243

1.

The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.

Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA.

Mamm Genome. 2004 Apr;15(4):307-14.

PMID:
15112108
[PubMed - indexed for MEDLINE]
2.

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.

Feng GH, Bailin T, Oh J, Spritz RA.

Hum Mol Genet. 1997 May;6(5):793-7.

PMID:
9158155
[PubMed - indexed for MEDLINE]
Free Article
3.

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA.

Nat Genet. 2002 Mar;30(3):321-4. Epub 2002 Feb 11.

PMID:
11836498
[PubMed - indexed for MEDLINE]
4.

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA.

Am J Hum Genet. 2001 Nov;69(5):1022-32. Epub 2001 Oct 3.

PMID:
11590544
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Analysis and expression of Rab38 in oculocutaneous lung disease.

Osanai K, Voelker DR.

Methods Enzymol. 2008;438:203-15. doi: 10.1016/S0076-6879(07)38014-2.

PMID:
18413250
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
12442288
[PubMed - indexed for MEDLINE]
7.

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Anderson PD, Huizing M, Claassen DA, White J, Gahl WA.

Hum Genet. 2003 Jul;113(1):10-7. Epub 2003 Mar 27.

PMID:
12664304
[PubMed - indexed for MEDLINE]
8.

Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

Huizing M, Boissy RE, Gahl WA.

Pigment Cell Res. 2002 Dec;15(6):405-19. Review.

PMID:
12453182
[PubMed - indexed for MEDLINE]
9.

Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome.

Osanai K, Higuchi J, Oikawa R, Kobayashi M, Tsuchihara K, Iguchi M, Huang J, Voelker DR, Toga H.

Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L243-51. doi: 10.1152/ajplung.00242.2009. Epub 2009 Nov 6.

PMID:
19897744
[PubMed - indexed for MEDLINE]
Free Article
10.

Analysis of ocular hypopigmentation in Rab38cht/cht mice.

Brooks BP, Larson DM, Chan CC, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik JF, Maminishkis A, John SW, Bush R, Pavan WJ.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13.

PMID:
17724166
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background.

Novak EK, Gautam R, Reddington M, Collinson LM, Copeland NG, Jenkins NA, McGarry MP, Swank RT.

Blood. 2002 Jul 1;100(1):128-35.

PMID:
12070017
[PubMed - indexed for MEDLINE]
Free Article
12.

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

Shotelersuk V, Gahl WA.

Mol Genet Metab. 1998 Oct;65(2):85-96. Review.

PMID:
9787100
[PubMed - indexed for MEDLINE]
13.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT.

Nat Genet. 2003 Sep;35(1):84-9. Epub 2003 Aug 17.

PMID:
12923531
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Huizing M, Gahl WA.

Curr Mol Med. 2002 Aug;2(5):451-67. Review.

PMID:
12125811
[PubMed - indexed for MEDLINE]
15.

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Starcevic M, Dell'Angelica EC.

J Biol Chem. 2004 Jul 2;279(27):28393-401. Epub 2004 Apr 21.

PMID:
15102850
[PubMed - indexed for MEDLINE]
Free Article
16.

The cell biology of Hermansky-Pudlak syndrome: recent advances.

Di Pietro SM, Dell'Angelica EC.

Traffic. 2005 Jul;6(7):525-33. Review.

PMID:
15941404
[PubMed - indexed for MEDLINE]
17.

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. Epub 2006 Dec 7.

PMID:
17156100
[PubMed - indexed for MEDLINE]
18.

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.

Bachli EB, Brack T, Eppler E, Stallmach T, Trüeb RM, Huizing M, Gahl WA.

Am J Med Genet A. 2004 Jun 1;127A(2):201-7.

PMID:
15108212
[PubMed - indexed for MEDLINE]
19.

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.

Hum Mutat. 2006 Nov;27(11):1158.

PMID:
17041891
[PubMed - indexed for MEDLINE]
20.

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA.

Thromb Haemost. 2001 Jul;86(1):233-45. Review.

PMID:
11487012
[PubMed - indexed for MEDLINE]

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