Literature DB >> 12452176

Griscelli syndrome types 1 and 2.

Gaël Ménasché, Alain Fischer, Geneviève de Saint Basile.   

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Year:  2002        PMID： 12452176      PMCID： PMC385107          DOI： 10.1086/344140

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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3.  An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

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4.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

5.  Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

Authors:  E Pastural; F Ersoy; N Yalman; N Wulffraat; E Grillo; F Ozkinay; I Tezcan; G Gediköglu; N Philippe; A Fischer; G de Saint Basile
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6.  Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.

Authors:  E Pastural; F J Barrat; R Dufourcq-Lagelouse; S Certain; O Sanal; N Jabado; R Seger; C Griscelli; A Fischer; G de Saint Basile
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7.  The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes.

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9.  Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes.

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10.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

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4.  MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

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5.  New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits.

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