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Similar articles for PubMed (Select 21765412)

1.

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA.

Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883.

2.

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J.

Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884.

PMID:
21765413
3.

Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.

Kahr WH, Lo RW, Li L, Pluthero FG, Christensen H, Ni R, Vaezzadeh N, Hawkins CE, Weyrich AS, Di Paola J, Landolt-Marticorena C, Gross PL.

Blood. 2013 Nov 7;122(19):3349-58. doi: 10.1182/blood-2013-04-499491. Epub 2013 Jul 16.

4.

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH.

Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885.

5.

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.

Guerrero JA, Bennett C, van der Weyden L, McKinney H, Chin M, Nurden P, McIntyre Z, Cambridge EL, Estabel J, Wardle-Jones H, Speak AO, Erber WN, Rendon A, Ouwehand WH, Ghevaert C.

Blood. 2014 Dec 4;124(24):3624-35. doi: 10.1182/blood-2014-04-566760. Epub 2014 Sep 25.

PMID:
25258341
6.

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.

Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A.

Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25.

7.

The Nbeal2(-/-) mouse as a model for the gray platelet syndrome.

Deppermann C, Nurden P, Nurden AT, Nieswandt B, Stegner D.

Rare Dis. 2013 Sep 26;1:e26561. doi: 10.4161/rdis.26561. eCollection 2013.

8.

The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome.

Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M.

J Thromb Haemost. 2010 Aug;8(8):1786-96. doi: 10.1111/j.1538-7836.2010.03932.x. Epub 2010 May 27.

9.

The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.

Urban D, Li L, Christensen H, Pluthero FG, Chen SZ, Puhacz M, Garg PM, Lanka KK, Cummings JJ, Kramer H, Wasmuth JD, Parkinson J, Kahr WH.

Blood. 2012 Dec 13;120(25):5032-40. doi: 10.1182/blood-2012-05-431205. Epub 2012 Sep 21.

10.

A dominant-negative GFI1B mutation in the gray platelet syndrome.

Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA.

N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10.

11.

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.

Deppermann C, Cherpokova D, Nurden P, Schulz JN, Thielmann I, Kraft P, Vögtle T, Kleinschnitz C, Dütting S, Krohne G, Eming SA, Nurden AT, Eckes B, Stoll G, Stegner D, Nieswandt B.

J Clin Invest. 2013 Jul 1. pii: 69210. doi: 10.1172/JCI69210. [Epub ahead of print]

12.

α-Granules at the BEACH.

Whiteheart SW.

Blood. 2013 Nov 7;122(19):3247-8. doi: 10.1182/blood-2013-07-516880. No abstract available.

13.

Alpha-granule pool of glycoprotein IIb-IIIa in normal and pathologic platelets and megakaryocytes.

Cramer EM, Savidge GF, Vainchenker W, Berndt MC, Pidard D, Caen JP, Massé JM, Breton-Gorius J.

Blood. 1990 Mar 15;75(6):1220-7.

14.

The gray platelet syndrome: clinical spectrum of the disease.

Nurden AT, Nurden P.

Blood Rev. 2007 Jan;21(1):21-36. Epub 2006 Jan 25. Review.

PMID:
16442192
15.

SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.

Meng R, Wang Y, Yao Y, Zhang Z, Harper DC, Heijnen HF, Sitaram A, Li W, Raposo G, Weiss MJ, Poncz M, Marks MS.

Blood. 2012 Jul 12;120(2):404-14. doi: 10.1182/blood-2011-11-389551. Epub 2012 May 18.

16.
18.

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.

Lo B, Li L, Gissen P, Christensen H, McKiernan PJ, Ye C, Abdelhaleem M, Hayes JA, Williams MD, Chitayat D, Kahr WH.

Blood. 2005 Dec 15;106(13):4159-66. Epub 2005 Aug 25.

19.

Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction.

Wang Y, Meng R, Hayes V, Fuentes R, Yu X, Abrams CS, Heijnen HF, Blobel GA, Marks MS, Poncz M.

Blood. 2011 Dec 1;118(23):6183-91. doi: 10.1182/blood-2011-06-363580. Epub 2011 Oct 11.

20.

Kistrin, an integrin antagonist, blocks endocytosis of fibrinogen into guinea pig megakaryocyte and platelet alpha-granules.

Handagama P, Bainton DF, Jacques Y, Conn MT, Lazarus RA, Shuman MA.

J Clin Invest. 1993 Jan;91(1):193-200.

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