(Q36560640)

14 August 2017

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

1 reference

Hermansky-Pudlak syndrome

14 August 2017

1 reference

J M Gardner

1

1 reference

14 August 2017

S C Wildenberg

2

1 reference

14 August 2017

N M Keiper

3

1 reference

14 August 2017

E K Novak

4

1 reference

14 August 2017

M E Rusiniak

5

1 reference

14 August 2017

R T Swank

6

1 reference

14 August 2017

N Puri

7

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14 August 2017

J N Finger

8

1 reference

14 August 2017

N Hagiwara

9

1 reference

14 August 2017

A L Lehman

10

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14 August 2017

T L Gales

11

1 reference

14 August 2017

M E Bayer

12

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14 August 2017

R A King

13

1 reference

14 August 2017

M H Brilliant

14

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14 August 2017

language of work or name

English

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publication date

1 August 1997

1 reference

Proceedings of the National Academy of Sciences of the United States of America

14 August 2017

1 reference

14 August 2017

94

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14 August 2017

9238-9243

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14 August 2017

17

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Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Molecular basis of the pleiotropic phenotype of mice carrying the hypervariable yellow (Ahvy) mutation at the agouti locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Identification of the homologous beige and Chediak-Higashi syndrome genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Mouse Fgf7 (fibroblast growth factor 7) and Fgf8 (fibroblast growth factor 8) genes map to chromosomes 2 and 19 respectively

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

A role for acidic residues in di-leucine motif-based targeting to the endocytic pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Melanosomes are specialized members of the lysosomal lineage of organelles.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Hermansky-Pudlak syndrome with granulomatous colitis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Selective proliferation of normal human melanocytes in vitro in the presence of phorbol ester and cholera toxin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

A new method for predicting signal sequence cleavage sites

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

The intracisternal A-particle gene family: structure and functional aspects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Sexual differentiation and regulation of cytochrome P-450 CYP2C7

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Lysosomal dysfunctions associated with mutations at mouse pigment genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Identification of the murine beige gene by YAC complementation and positional cloning.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Intracellular distribution of lysosomal enzymes in the mouse pigment mutants pale ear and pallid

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23134

Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII

21 September 2018

1 reference

12 December 2020

Pigmentation and lysosome function in mice homozygous for both pale ear and beige-J pigment genes

1 reference

12 December 2020

Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon

1 reference

12 December 2020

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

1 reference

12 December 2020

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome

1 reference

12 December 2020

Hermansky-Pudlak syndrome: a clinicopathologic study

1 reference

12 December 2020

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm

1 reference

12 December 2020

Sandy: a new mouse model for platelet storage pool deficiency

1 reference

12 December 2020

Encyclopedia of the mouse genome V. Mouse chromosome 19

1 reference

12 December 2020

Normal murine melanocytes in culture

1 reference

12 December 2020

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

12 December 2020

Hermansky-Pudlak syndrome. Ophthalmic findings

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.94.17.9238

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14 August 2017

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14 August 2017

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