(Q24304339)

GOA release 2020-03-11

keratinocyte development

1 reference

GOA release 2020-03-11

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9

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Michael Simpson

object named as

Michael A Simpson

4

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author name string

John A McGrath

1

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Kristina L Stone

2

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Rumena Begum

3

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Patricia J Dopping-Hepenstal

5

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Lu Liu

6

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James R McMillan

7

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Andrew P South

8

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W H Irwin McLean

10

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Anna E Martinez

11

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Jemima E Mellerio

American Journal of Human Genetics

12

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language of work or name

English

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publication date

7 December 2012

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published in

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volume

91

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issue

6

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page(s)

1115-21

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cites work

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

1 reference

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Rab27a and Rab27b control different steps of the exosome secretion pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Rab GTPases as coordinators of vesicle traffic

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Melanophilin and myosin Va track the microtubule plus end on EB1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

BEDTools: a flexible suite of utilities for comparing genomic features

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Exosomes: immune properties and potential clinical implementations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Griscelli syndrome: a model system to study vesicular trafficking

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Regulation of secretory vesicle traffic by Rab small GTPases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Itinerant exosomes: emerging roles in cell and tissue polarity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Tumour-released exosomes and their implications in cancer immunity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Rab27b is expressed in a wide range of exocytic cells and involved in the delivery of secretory granules near the plasma membrane

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Rab27b regulates number and secretion of platelet dense granules

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Alzheimer's disease beta-amyloid peptides are released in association with exosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Immature dendritic cell-derived exosomes can mediate HIV-1 trans infection

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Cellular integrity plus: organelle-related and protein-targeting functions of intermediate filaments.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Cells release prions in association with exosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Tumor-derived exosomes are a source of shared tumor rejection antigens for CTL cross-priming

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516608

Profile of exosomes related proteins released by differentiated and undifferentiated human keratinocytes

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176819