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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Nature genetics, 1998-10, Vol.20 (2), p.157-162

1998

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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Nature genetics, 2003-09, Vol.35 (1), p.84-89

2003

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Abnormal Expression and Subcellular Distribution of Subunit Proteins of the AP-3 Adaptor Complex Lead to Platelet Storage Pool Deficiency in the Pearl Mouse

Blood, 1999-07, Vol.94 (1), p.146-155

1999

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A Mutation in Rab27a Causes the Vesicle Transport Defects Observed in ashen Mice

Proceedings of the National Academy of Sciences - PNAS, 2000-07, Vol.97 (14), p.7933-7938

2000

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Kidney and Retinal Defects ( Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus

Genomics (San Diego, Calif.), 1994-09, Vol.23 (2), p.309-320

1994

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

Nature genetics, 2001-08, Vol.28 (4), p.376-380

2001

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The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 Proteins Are Components of Two Complexes, BLOC-3 and BLOC-4, Involved in the Biogenesis of Lysosome-related Organelles

The Journal of biological chemistry, 2003-05, Vol.278 (22), p.20332-20337

2003

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Hermansky-Pudlak syndrome is caused by mutations in HPS4 , the human homolog of the mouse light-ear gene

Nature genetics, 2002-03, Vol.30 (3), p.321-324

2002

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The Hermansky-Pudlak Syndrome 3 (Cocoa) Protein Is a Component of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2)

The Journal of biological chemistry, 2004-03, Vol.279 (13), p.12935-12942

2004

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The beta 3A 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

Human molecular genetics, 1999-02, Vol.8 (2), p.323-330

1999

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A simple and high yield method for recovering DNA from agarose gels

BioTechniques, 1993-06, Vol.14 (6), p.894

1993

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Rab Geranylgeranyl Transferase α Mutation in the Gunmetal Mouse Reduces Rab Prenylation and Platelet Synthesis

Proceedings of the National Academy of Sciences - PNAS, 2000-04, Vol.97 (8), p.4144-4149

2000

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Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation

Blood, 1995-04, Vol.85 (7), p.1781-1789

1995

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Inherited Abnormalities in Platelet Organelles and Platelet Formation and Associated Altered Expression of Low Molecular Weight Guanosine Triphosphate-Binding Proteins in the Mouse Pigment Mutant Gunmetal

Blood, 1993-05, Vol.81 (10), p.2626-2635

1993

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

Human molecular genetics, 2002-03, Vol.11 (6), p.697-706

2002

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Platelet Storage Pool Deficiency in Mouse Pigment Mutations Associated With Seven Distinct Genetic Loci

Blood, 1984-03, Vol.63 (3), p.536-544

1984

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Deconjugation of bilirubin-IX alpha glucuronides: a physiologic role of hepatic microsomal beta-glucuronidase

The Journal of biological chemistry, 1993-11, Vol.268 (31), p.23197-23201

1993

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The Gene Mutated in Cocoa Mice, Carrying a Defect of Organelle Biogenesis, Is a Homologue of the Human Hermansky–Pudlak Syndrome-3 Gene

Genomics (San Diego, Calif.), 2001-11, Vol.78 (1-2), p.30-37

2001

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Cigarette sales to African-American and white minors in low-income areas of Baltimore

American journal of public health (1971), 1997-04, Vol.87 (4), p.652-654

1997

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Egasyn, a protein which determines the subcellular distribution of beta-glucuronidase, has esterase activity

The Journal of biological chemistry, 1985-12, Vol.260 (29), p.15802-15808

1985

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Cocoa: a new mouse model for platelet storage pool deficiency

British journal of haematology, 1988-07, Vol.69 (3), p.371-378

1988

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An accessory protein identical to mouse egasyn is complexed with rat microsomal beta-glucuronidase and is identical to rat esterase-3

The Journal of biological chemistry, 1987-05, Vol.262 (15), p.7248-7253

1987

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

Mammalian genome, 1996-02, Vol.7 (2), p.98-102

1996

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Characterization and functional expression of a cDNA encoding egasyn (esterase-22): the endoplasmic reticulum-targeting protein of β-glucuronidase

Genomics (San Diego, Calif.), 1991-12, Vol.11 (4), p.956-967

1991

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

Mammalian genome, 1994-06, Vol.5 (6), p.356-360

1994

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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Abnormal Expression and Subcellular Distribution of Subunit Proteins of the AP-3 Adaptor Complex Lead to Platelet Storage Pool Deficiency in the Pearl Mouse

A Mutation in Rab27a Causes the Vesicle Transport Defects Observed in ashen Mice

Kidney and Retinal Defects ( Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus

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

The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 Proteins Are Components of Two Complexes, BLOC-3 and BLOC-4, Involved in the Biogenesis of Lysosome-related Organelles

Hermansky-Pudlak syndrome is caused by mutations in HPS4 , the human homolog of the mouse light-ear gene

The Hermansky-Pudlak Syndrome 3 (Cocoa) Protein Is a Component of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2)

The beta 3A 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

A simple and high yield method for recovering DNA from agarose gels

Rab Geranylgeranyl Transferase α Mutation in the Gunmetal Mouse Reduces Rab Prenylation and Platelet Synthesis

Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation

Inherited Abnormalities in Platelet Organelles and Platelet Formation and Associated Altered Expression of Low Molecular Weight Guanosine Triphosphate-Binding Proteins in the Mouse Pigment Mutant Gunmetal

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

Platelet Storage Pool Deficiency in Mouse Pigment Mutations Associated With Seven Distinct Genetic Loci

Deconjugation of bilirubin-IX alpha glucuronides: a physiologic role of hepatic microsomal beta-glucuronidase

The Gene Mutated in Cocoa Mice, Carrying a Defect of Organelle Biogenesis, Is a Homologue of the Human Hermansky–Pudlak Syndrome-3 Gene

Cigarette sales to African-American and white minors in low-income areas of Baltimore

Egasyn, a protein which determines the subcellular distribution of beta-glucuronidase, has esterase activity

Cocoa: a new mouse model for platelet storage pool deficiency

An accessory protein identical to mouse egasyn is complexed with rat microsomal beta-glucuronidase and is identical to rat esterase-3

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

Characterization and functional expression of a cDNA encoding egasyn (esterase-22): the endoplasmic reticulum-targeting protein of β-glucuronidase

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

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