Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (Q54541514)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

Griscelli syndrome type 2

1 reference

Mohammad Hossein Modarressi

inferred from title

author

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Soheila Alyasin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Mohammad Reza Fazlollahi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Mahmood Reza Ashrafi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

author name string

Setareh Mamishi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Babak Pourakbari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Banafshe Tamizifar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Fatemeh Mahjoub

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Alireza Fahimzad

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Mohamad Hassan Bemanian

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Amir Ali Hamidiyeh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Anna Isaeian

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Ghamartaj Khotaei

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Mehdi Yeganeh

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Nima Parvaneh

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

publication date

19 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Immunology

4 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

384-389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350256%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10875-008-9192-5

4 January 2020

exact match

0 references

cites work

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets

1 reference

12 December 2020

561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning, mapping and characterization of the human RAB27A gene.

1 reference

12 December 2020

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

1 reference

12 December 2020

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

1 reference

12 December 2020

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

1 reference

12 December 2020

Partial albinism with immunodeficiency (Griscelli syndrome)

1 reference

12 December 2020

Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl

1 reference

12 December 2020

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

1 reference

12 December 2020

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

1 reference

12 December 2020

Rab GTPases, intracellular traffic and disease.

1 reference

12 December 2020

Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients

1 reference

12 December 2020

Severe combined immunodeficiency: a cohort of 40 patients.

1 reference

12 December 2020

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

1 reference

12 December 2020

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum ofRab27Amutations in humans

1 reference

12 December 2020

Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

1 reference

12 December 2020

A syndrome associating partial albinism and immunodeficiency

1 reference

12 December 2020

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.

1 reference

12 December 2020

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1 reference

12 December 2020

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

1 reference

12 December 2020

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

1 reference

12 December 2020

Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency Registry

1 reference

12 December 2020

Genetic defects affecting lymphocyte cytotoxicity

1 reference

12 December 2020

The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily.

1 reference

12 December 2020

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

1 reference

12 December 2020

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

12 December 2020