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Items: 1 to 20 of 263

1.

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER.

Am J Hum Genet. 2006 Jan;78(1):160-6. Epub 2005 Nov 28.

2.

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.

3.

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. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.

4.

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.

5.

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.

Andres O, Wiegering V, König EM, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H.

Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26320. Epub 2016 Dec 4.

PMID:
27917594
6.

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. doi: 10.1055/s-0030-1249628. Epub 2010 May 31.

PMID:
20514622
7.

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA.

J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20.

9.

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.

10.

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).

Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL.

Blood. 2003 Jun 1;101(11):4402-7. Epub 2003 Feb 6.

11.

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.

12.

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.

PMID:
11455388
13.

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Dec;131(12):2394-400. doi: 10.1038/jid.2011.228. Epub 2011 Aug 11.

14.

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009. Retraction in: Am J Hum Genet. 2017 May 4;100(5):837.

15.

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
16.

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.

17.

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.

18.
19.

Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.

Corral J, González-Conejero R, Pujol-Moix N, Domenech P, Vicente V.

Haematologica. 2004 Mar;89(3):325-9.

20.

A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.

Korswagen LA, Huizing M, Simsek S, Janssen JJ, Zweegman S.

Eur J Haematol. 2008 Apr;80(4):356-60. doi: 10.1111/j.1600-0609.2007.01024.x. Epub 2007 Dec 21.

PMID:
18182080

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