The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking (Q24609096)

GOA release 2020-03-11

gene trafficking

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Hermansky-Pudlak syndrome

inferred from title

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Stephen F Kingsmore

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Qing Zhang

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Wei Li

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Edward K Novak

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Amna Karim

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Vishnu S Mishra

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Bruce A Roe

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Tamio Suzuki

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Richard T Swank

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

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language of work or name

English

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publication date

15 March 2002

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published in

Human Molecular Genetics

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volume

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issue

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page(s)

697-706

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Coping with the inevitable: how cells repair a torn surface 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=2847475

Hermansky-Pudlak syndrome and related disorders of organelle formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Regulated secretion of conventional lysosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Regulated secretion from hemopoietic cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Multi-organellar disorders of pigmentation: tied up in traffic

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino loci

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Genomic structure of the mouse Ap3b1 gene in normal and pearl mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Transcriptional Repression and Differential Splicing of Fas m-RNA by Early Transposon (ETn) Insertion in Autoimmune LPR Mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847475

Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome

28 November 2018

1 reference

12 December 2020

Retrotransposons as epigenetic mediators of phenotypic variation in mammals

1 reference

12 December 2020

Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV

1 reference

12 December 2020

Trace metals and otolith defects in mocha mice

1 reference

12 December 2020

Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha

1 reference

12 December 2020

Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD)

1 reference

12 December 2020

The process of otoconia formation in guinea pig utricular supporting cells

1 reference

12 December 2020

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

12 December 2020

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/11.6.697

1 reference

release_nqxl5xxqvvh5pcqk63xu4enlda

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nqxl5xxqvvh5pcqk63xu4enlda

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

11912185

1 reference