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Results: 1 to 20 of 122

Related Citations for PubMed (Select 12445206)

1.

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT, Wei ML.

J Invest Dermatol. 2002 Nov;119(5):1156-64.

2.
3.

Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.

Nguyen T, Wei ML.

J Invest Dermatol. 2007 Feb;127(2):421-8. Epub 2006 Oct 19.

4.

Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.

Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL.

Blood. 2000 Dec 15;96(13):4227-35.

5.

The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome.

Bahadori R, Rinner O, Schonthaler HB, Biehlmaier O, Makhankov YV, Rao P, Jagadeeswaran P, Neuhauss SC.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4523-31.

6.

snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.

Daly CM, Willer J, Gregg R, Gross JM.

Genetics. 2013 Oct;195(2):481-94. doi: 10.1534/genetics.113.154898. Epub 2013 Jul 26.

7.

Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.

Jing R, Dong X, Li K, Zhang J, Yan J, Feng L.

Exp Eye Res. 2014 Feb;119:35-43. doi: 10.1016/j.exer.2013.12.007. Epub 2013 Dec 17.

PMID:
24361037
8.

Hypopigmentation in Hermansky-Pudlak syndrome.

Wei AH, He X, Li W.

J Dermatol. 2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025. Review.

PMID:
23668540
9.

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.

Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL.

Blood. 2004 Nov 15;104(10):3181-9. Epub 2004 Jul 20.

10.

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
11.

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. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.

12.

Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.

Swank RT, Novak EK, McGarry MP, Zhang Y, Li W, Zhang Q, Feng L.

Pigment Cell Res. 2000;13 Suppl 8:59-67.

PMID:
11041359
13.

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.

Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT.

Bioessays. 2004 Jun;26(6):616-28. Review.

PMID:
15170859
14.

The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.

Jing R, Dong X, Li K, Yan J, Chen X, Feng L.

Exp Eye Res. 2014 Nov;128:57-66. doi: 10.1016/j.exer.2014.08.010. Epub 2014 Aug 24.

PMID:
25160823
15.

The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.

Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT.

Hum Mol Genet. 2002 Mar 15;11(6):697-706.

16.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W.

J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.

17.

The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.

Starcevic M, Nazarian R, Dell'Angelica EC.

Semin Cell Dev Biol. 2002 Aug;13(4):271-8. Review.

PMID:
12243726
18.

Hermansky-Pudlak syndrome.

Krisp A, Hoffman R, Happle R, K├Ânig A, Freyschmidt-Paul P.

Eur J Dermatol. 2001 Jul-Aug;11(4):372-3.

PMID:
11399548
19.

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.

20.

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA.

Genomics. 2001 Nov;78(1-2):30-7.

PMID:
11707070
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