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Items: 1 to 20 of 98

1.

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM.

J Clin Immunol. 2004 Jul;24(4):397-410.

PMID:
15163896
2.

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, Beutel K, Hasle H, Heilmann C, Hultenby K, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI.

Pediatr Blood Cancer. 2010 Apr;54(4):563-72. doi: 10.1002/pbc.22357.

PMID:
19953648
3.

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M.

Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015.

4.

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G.

Nat Genet. 2000 Jun;25(2):173-6.

PMID:
10835631
5.

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Meschede IP, Santos TO, Izidoro-Toledo TC, Gurgel-Gianetti J, Espreafico EM.

Braz J Med Biol Res. 2008 Oct;41(10):839-48.

6.

The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes.

Hume AN, Collinson LM, Hopkins CR, Strom M, Barral DC, Bossi G, Griffiths GM, Seabra MC.

Traffic. 2002 Mar;3(3):193-202.

7.

Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.

Bahadoran P, Busca R, Chiaverini C, Westbroek W, Lambert J, Bille K, Valony G, Fukuda M, Naeyaert JM, Ortonne JP, Ballotti R.

J Biol Chem. 2003 Mar 28;278(13):11386-92.

8.

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR.

Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Review.

9.

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Panigrahi I, Suthar R, Rawat A, Behera B.

Pediatr Neurol. 2015 May;52(5):535-8. doi: 10.1016/j.pediatrneurol.2015.01.010.

PMID:
25801174
10.

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G.

J Clin Invest. 2003 Aug;112(3):450-6. Erratum in: J Clin Invest. 2005 Apr;115(4):1100.

11.

Molecular analysis and clinical findings of Griscelli syndrome patients.

Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, Peker E, Atmaca M, Genel F, Bozabali S, Akin H, Ozkinay C.

J Pediatr Hematol Oncol. 2012 Oct;34(7):541-4.

PMID:
22983416
12.

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

Rajyalakshmi R, Chakrapani RN.

Indian J Pathol Microbiol. 2016 Jan-Mar;59(1):113-6. doi: 10.4103/0377-4929.178230.

13.

Griscelli syndrome: a model system to study vesicular trafficking.

Van Gele M, Dynoodt P, Lambert J.

Pigment Cell Melanoma Res. 2009 Jun;22(3):268-82. doi: 10.1111/j.1755-148X.2009.00558.x. Review.

PMID:
19243575
14.

NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome.

Gazit R, Aker M, Elboim M, Achdout H, Katz G, Wolf DG, Katzav S, Mandelboim O.

Blood. 2007 May 15;109(10):4306-12.

15.

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.

Shamsian BS, Norbakhsh K, Rezaei N, Safari A, Gharib A, Pourpak Z, Alavi S, Parvaneh N, Arzanian MT.

J Investig Allergol Clin Immunol. 2010;20(7):612-5.

16.

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT.

Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, Haas RJ, Belohradsky BH.

Bone Marrow Transplant. 2001 Aug;28(4):409-12.

17.

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G.

Blood. 2003 Apr 1;101(7):2736-42.

18.

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, Pende D, Gilmour K, Romagnoli P, Griffiths GM, Aricò M.

J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039.

19.

Rab27a negatively regulates phagocytosis by prolongation of the actin-coating stage around phagosomes.

Yokoyama K, Kaji H, He J, Tanaka C, Hazama R, Kamigaki T, Ku Y, Tohyama K, Tohyama Y.

J Biol Chem. 2011 Feb 18;286(7):5375-82. doi: 10.1074/jbc.M110.171702.

20.

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.

Ohbayashi N, Mamishi S, Ishibashi K, Maruta Y, Pourakbari B, Tamizifar B, Mohammadpour M, Fukuda M, Parvaneh N.

Pigment Cell Melanoma Res. 2010 Jun;23(3):365-74. doi: 10.1111/j.1755-148X.2010.00705.x.

PMID:
20370853
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