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Items: 1 to 20 of 37

1.

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.

Li W, He M, Zhou H, Bourne JW, Liang P.

Hum Mutat. 2006 May;27(5):402-7.

PMID:
16550546
2.

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML.

Pigment Cell Res. 2006 Feb;19(1):19-42. Review.

PMID:
16420244
3.

Polyphosphate modulates blood coagulation and fibrinolysis.

Smith SA, Mutch NJ, Baskar D, Rohloff P, Docampo R, Morrissey JH.

Proc Natl Acad Sci U S A. 2006 Jan 24;103(4):903-8. Epub 2006 Jan 12.

4.

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.

5.

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.

Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT.

Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. Epub 2005 Jul 21.

6.

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

Di Pietro SM, Dell'Angelica EC.

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

7.
8.

Acidocalcisomes - conserved from bacteria to man.

Docampo R, de Souza W, Miranda K, Rohloff P, Moreno SN.

Nat Rev Microbiol. 2005 Mar;3(3):251-61. Review.

PMID:
15738951
9.
10.

Molecular defects that affect platelet dense granules.

Gunay-Aygun M, Huizing M, Gahl WA.

Semin Thromb Hemost. 2004 Oct;30(5):537-47. Review.

PMID:
15497096
11.

Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.

Westbroek W, Lambert J, De Schepper S, Kleta R, Van Den Bossche K, Seabra MC, Huizing M, Mommaas M, Naeyaert JM.

Pigment Cell Res. 2004 Oct;17(5):498-505.

PMID:
15357836
12.

Human platelet dense granules contain polyphosphate and are similar to acidocalcisomes of bacteria and unicellular eukaryotes.

Ruiz FA, Lea CR, Oldfield E, Docampo R.

J Biol Chem. 2004 Oct 22;279(43):44250-7. Epub 2004 Aug 11.

13.

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.

Traffic. 2004 Sep;5(9):711-22.

14.

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
16.

Lytic granules, secretory lysosomes and disease.

Clark R, Griffiths GM.

Curr Opin Immunol. 2003 Oct;15(5):516-21. Review.

PMID:
14499259
17.

An easy method to determine the serotonin content of human platelets.

CROSTI PF, LUCCHELLI PE.

J Clin Pathol. 1962 Mar;15:191-3. No abstract available.

18.

Human and mouse disorders of pigmentation.

Spritz RA, Chiang PW, Oiso N, Alkhateeb A.

Curr Opin Genet Dev. 2003 Jun;13(3):284-9. Review.

PMID:
12787791
19.

Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.

Lyerla TA, Rusiniak ME, Borchers M, Jahreis G, Tan J, Ohtake P, Novak EK, Swank RT.

Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L643-53. Epub 2003 May 30.

20.

Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35).

Ishida N, Kawakita M.

Pflugers Arch. 2004 Feb;447(5):768-75. Epub 2003 May 21. Review.

PMID:
12759756

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