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Items: 1 to 20 of 44

1.

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.

Chen T, Song G, Yang H, Mao L, Cui Z, Huang K.

Genetics. 2018 Mar;208(3):1131-1146. doi: 10.1534/genetics.117.300621. Epub 2018 Jan 16.

PMID:
29339408
2.

Hematopoietic transcription factor mutations: important players in inherited platelet defects.

Songdej N, Rao AK.

Blood. 2017 May 25;129(21):2873-2881. doi: 10.1182/blood-2016-11-709881. Epub 2017 Apr 17. Review.

PMID:
28416505
3.

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. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.

4.

Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.

Mao GF, Goldfinger LE, Fan DC, Lambert MP, Jalagadugula G, Freishtat R, Rao AK.

J Thromb Haemost. 2017 Apr;15(4):792-801. doi: 10.1111/jth.13619. Epub 2017 Feb 23.

5.

Pallidin protein in neurodevelopment and its relation to the pathogenesis of schizophrenia.

Shi Q, Li C, Li K, Liu Q.

Mol Med Rep. 2017 Feb;15(2):665-672. doi: 10.3892/mmr.2016.6064. Epub 2016 Dec 21.

6.

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V, Dotta L, Giardino G, Cirillo E, Lougaris V, D'Assante R, Prandini A, Consolini R, Farrow EG, Thiffault I, Saunders CJ, Leonardi A, Plebani A, Badolato R, Pignata C.

Front Immunol. 2016 Nov 7;7:466. eCollection 2016.

7.

Platelet secretion in inflammatory and infectious diseases.

Manne BK, Xiang SC, Rondina MT.

Platelets. 2017 Mar;28(2):155-164. doi: 10.1080/09537104.2016.1240766. Epub 2016 Nov 16. Review.

8.

Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome.

Young LR, Gulleman PM, Short CW, Tanjore H, Sherrill T, Qi A, McBride AP, Zaynagetdinov R, Benjamin JT, Lawson WE, Novitskiy SV, Blackwell TS.

JCI Insight. 2016 Oct 20;1(17):e88947.

9.

Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Dolinska MB, Kus NJ, Farney SK, Wingfield PT, Brooks BP, Sergeev YV.

Pigment Cell Melanoma Res. 2017 Jan;30(1):41-52. doi: 10.1111/pcmr.12546.

10.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR.

Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.

11.

Hermansky-Pudlak Syndrome.

El-Chemaly S, Young LR.

Clin Chest Med. 2016 Sep;37(3):505-11. doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30. Review.

12.

BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.

Dennis MK, Delevoye C, Acosta-Ruiz A, Hurbain I, Romao M, Hesketh GG, Goff PS, Sviderskaya EV, Bennett DC, Luzio JP, Galli T, Owen DJ, Raposo G, Marks MS.

J Cell Biol. 2016 Aug 1;214(3):293-308. doi: 10.1083/jcb.201605090.

13.

Inherited platelet dysfunction and hematopoietic transcription factor mutations.

Songdej N, Rao AK.

Platelets. 2017 Jan;28(1):20-26. doi: 10.1080/09537104.2016.1203400. Epub 2016 Jul 27. Review.

14.

Inherited platelet disorders: toward DNA-based diagnosis.

Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGE-BPD Consortium and the ThromboGenomics Consortium.

Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19. Review.

15.

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.

Greene D; NIHR BioResource, Richardson S, Turro E.

Am J Hum Genet. 2016 Mar 3;98(3):490-499. doi: 10.1016/j.ajhg.2016.01.008. Epub 2016 Feb 25.

16.

BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes.

Delevoye C, Heiligenstein X, Ripoll L, Gilles-Marsens F, Dennis MK, Linares RA, Derman L, Gokhale A, Morel E, Faundez V, Marks MS, Raposo G.

Curr Biol. 2016 Jan 11;26(1):1-13. doi: 10.1016/j.cub.2015.11.020. Epub 2015 Dec 24.

17.

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Yousaf S, Shahzad M, Kausar T, Sheikh SA, Tariq N, Shabbir AS; University of Washington Center for Mendelian Genomics, Ali M, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM.

Pigment Cell Melanoma Res. 2016 Mar;29(2):231-5. doi: 10.1111/pcmr.12438. Epub 2015 Dec 18. No abstract available.

18.

Hermansky-Pudlak syndrome type 4 with interstitial pneumonia.

Sakata Y, Kawamura K, Ichikado K, Suga M, Yoshioka M.

Respir Med Case Rep. 2013 Jun 3;9:38-41. doi: 10.1016/j.rmcr.2013.04.002. eCollection 2013.

19.

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

Dennis MK, Mantegazza AR, Snir OL, Tenza D, Acosta-Ruiz A, Delevoye C, Zorger R, Sitaram A, de Jesus-Rojas W, Ravichandran K, Rux J, Sviderskaya EV, Bennett DC, Raposo G, Marks MS, Setty SR.

J Cell Biol. 2015 May 25;209(4):563-77. doi: 10.1083/jcb.201410026.

20.

Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.

Meng R, Wu J, Harper DC, Wang Y, Kowalska MA, Abrams CS, Brass LF, Poncz M, Stalker TJ, Marks MS.

Blood. 2015 Mar 5;125(10):1623-32. doi: 10.1182/blood-2014-07-586727. Epub 2014 Dec 4.

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