Two genes are responsible for Griscelli syndrome at the same 15q21 locus. - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q33892373

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Rab27a: A key to melanosome transport in human melanocytes MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3 Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene Rab and Arf proteins in genetic diseases Regulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectors Structural Insights into the Globular Tails of the Human Type V Myosins Myo5a, Myo5b, and Myo5c Vici syndrome: a review From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome Current Strategies in Diagnosis of Inherited Storage Pool Defects An Indian boy with griscelli syndrome type 2: case report and review of literature Long intergenic non-coding RNAs (LincRNAs) identified by RNA-seq in breast cancer.Hermansky-Pudlak syndrome and related disorders of organelle formation.Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.Normal and abnormal secretion by haemopoietic cells.Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review.Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation.Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre 'Should I stay or should I go?': myosin V function in organelle trafficking.Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Myosin Va is developmentally regulated and expressed in the human cerebellum from birth to old age.The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.Interplay between Rab27a effectors in pancreatic β-cells.Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.Identifying signatures of positive selection in pigmentation genes in two South Asian populations.Griscelli syndrome: a case report.Griscelli syndrome types 1 and 2.Rab27a is required for regulated secretion in cytotoxic T lymphocytes.Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.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.A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.Further evidence for genotype-phenotype disparity in Griscelli syndrome.Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

P2860

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P2860

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

http://www.wikidata.org/entity/Q33892373

description

2000 nî lūn-bûn

@nan

2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

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

@ast

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

@en

type

label

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

@ast

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

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prefLabel

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

@ast

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

@en

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

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P2093

Ersoy F

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Fischer A

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Gediköglu G

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Ozkinay F

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Yalman N

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299-306

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scholarly article

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10.1006/GENO.1999.6081

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3

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63

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Geneviève de Saint Basile

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2000-02-01T00:00:00Z

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10704277

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