These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 33362801)

  • 1. Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
    Ohishi Y; Ammann S; Ziaee V; Strege K; Groß M; Amos CV; Shahrooei M; Ashournia P; Razaghian A; Griffiths GM; Ehl S; Fukuda M; Parvaneh N
    Front Immunol; 2020; 11():612977. PubMed ID: 33362801
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 25312756
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
    Netter P; Chan SK; Banerjee PP; Monaco-Shawver L; Noroski LM; Hanson IC; Forbes LR; Mace EM; Chinen J; Gaspar HB; Sleiman P; Hakonarson H; Klein C; Ehlayel MS; Orange JS
    J Allergy Clin Immunol; 2016 Aug; 138(2):599-601.e3. PubMed ID: 27016801
    [No Abstract]   [Full Text] [Related]  

  • 4. The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.
    Ishida M; Arai SP; Ohbayashi N; Fukuda M
    J Biol Chem; 2014 Apr; 289(16):11059-11067. PubMed ID: 24584932
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
    Al-Sulaiman R; Othman A; El-Akouri K; Fareed S; AlMulla H; Sukik A; Al-Mureikhi M; Shahbeck N; Ali R; Al-Mesaifri F; Musa S; Al-Mulla M; Ibrahim K; Mohamed K; Al-Nesef MA; Ehlayel M; Ben-Omran T
    Am J Med Genet A; 2020 Nov; 182(11):2570-2580. PubMed ID: 32856792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 20370853
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.
    Russ A; Mack J; Green-Murphy A; Occidental M; Mian A
    J Pediatr Hematol Oncol; 2019 Aug; 41(6):473-477. PubMed ID: 31233462
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
    Krzewski K; Cullinane AR
    Exp Cell Res; 2013 Sep; 319(15):2360-7. PubMed ID: 23810987
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
    Zhang Q; Zhao YZ; Ma HH; Wang D; Zhang N; Li ZG; Zhang R
    BMC Pediatr; 2021 May; 21(1):253. PubMed ID: 34058999
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 20591709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 101(7):2736-42. PubMed ID: 12446441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.
    Woodward KE; Shah RM; Benseler S; Wei XC; Ng D; Grossman J; Hahn C; Thomas MA; Wright NAM; Appendino JP
    Pediatr Blood Cancer; 2020 Aug; 67(8):e28312. PubMed ID: 32459386
    [No Abstract]   [Full Text] [Related]  

  • 13. 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. PubMed ID: 19953648
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.
    Yeetong P; Suphapeetiporn K; Shotelersuk V
    World J Pediatr; 2017 Aug; 13(4):392-394. PubMed ID: 28484936
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
    Zondag TCE; Torralba-Raga L; Van Laar JAM; Hermans MAW; Bouman A; Hollink IHIM; Van Hagen PM; Briggs DA; Hume AN; Bryceson YT
    J Clin Immunol; 2022 Nov; 42(8):1685-1695. PubMed ID: 35870028
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 19030707
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 22983416
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.
    Gupta D; Thakral D; Bakhshi S; Kabra SK; Mitra DK
    Indian J Pathol Microbiol; 2019; 62(2):279-282. PubMed ID: 30971555
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 278(13):11386-92. PubMed ID: 12531900
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.
    Elstak ED; Neeft M; Nehme NT; Voortman J; Cheung M; Goodarzifard M; Gerritsen HC; van Bergen En Henegouwen PM; Callebaut I; de Saint Basile G; van der Sluijs P
    Blood; 2011 Aug; 118(6):1570-8. PubMed ID: 21693760
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.