Multi‐organellar disorders of pigmentation: tied up in traffic

ENDOCYTOSIS AND MOLECULAR SORTING

1996 • 1,537 citations

Genetic variants and strains of the laboratory mouse

1990 • 1,519 citations

CLATHRIN-COATED VESICLE FORMATION AND PROTEIN SORTING: An Integrated Process

1997 • 793 citations

The Coat Colors of Mice

1979 • 646 citations

Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

1959 • 539 citations

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

1996 • 536 citations

Identification of the homologous beige and Chediak–Higashi syndrome genes

1996 • 536 citations

Novel myosin heavy chain encoded by murine dilute coat colour locus

1991 • 534 citations

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

1997 • 448 citations

Linking cargo to vesicle formation: receptor tail interactions with coat proteins

1997 • 408 citations

The Chediak-Higashi syndrome: studies in four patients and a review of the literature.

1972 • 398 citations

Mutation in AP-3 δ in the mocha Mouse Links Endosomal Transport to Storage Deficiency in Platelets, Melanosomes, and Synaptic Vesicles

1998 • 393 citations

Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome

1981 • 391 citations

AP-3: an adaptor-like protein complex with ubiquitous expression

1997 • 389 citations

A syndrome associating partial albinism and immunodeficiency

1978 • 372 citations

Characterization of the Adaptor-related Protein Complex, AP-3

1997 • 369 citations

Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

1999 • 360 citations

Direct interaction of microtubule- and actin-based transport motors

1999 • 329 citations

THE CHEDIAK-HIGASHI SYNDROME

1972 • 314 citations

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

1996 • 281 citations

A new immunodeficiency disorder in humans involving NK cells

1980 • 270 citations

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

1999 • 252 citations

The trans-Golgi network: a late secretory sorting station

1997 • 235 citations

Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor

1997 • 227 citations

Partial albinism with immunodeficiency (Griscelli syndrome)

1994 • 221 citations

Congenital Gigantism of Peroxidase Granules

1954 • 217 citations

The Mammalian AP-3 Adaptor-like Complex Mediates the Intracellular Transport of Lysosomal Membrane Glycoproteins

1998 • 213 citations

The beige mutation in the mouse. I. A stem cell predetermined impairment in natural killer cell function.

1979 • 198 citations

Further Evidence for a Deficient Storage Pool of Adenine Nucleotides in Platelets From Some Patients With Thrombocytopathia—"Storage Pool Disease"

1972 • 196 citations

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

1996 • 193 citations

Chediak-Higashi gene in humans. I. Impairment of natural - killer function

1980 • 193 citations

Mouse Models of Hermansky Pudlak Syndrome: A Review

1998 • 192 citations

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

1990 • 170 citations

Giant Granules in Leukocytes of the Beige Mouse

1967 • 170 citations

Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis.

1995 • 165 citations

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

1998 • 162 citations

The Chediak-Higashi Syndrome: A Possible Lysosomal Disease

1966 • 155 citations

Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

1997 • 154 citations

THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE

1964 • 153 citations

Hermansky-Pudlak Syndrome with Granulomatous Colitis

1980 • 152 citations

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

1984 • 141 citations

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

1997 • 137 citations

The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein

1997 • 135 citations

The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes.

1993 • 131 citations

Primary immunodeficiency diseases. A molecular and genetic approach.

1999 • 130 citations

Coats and vesicle budding

1997 • 127 citations

The Beige Mutation in the Mouse

1979 • 110 citations

Chediak-Higashi gene in humans. II. The selectivity of the defect in natural- killer and antibody-dependent cell-mediated cytotoxicity function

1980 • 110 citations

Mechanisms of protein sorting and coat assembly: insights from the clathrin-coated vesicle pathway

1998 • 107 citations

Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare 'AT-AC' Intron

1997 • 106 citations

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse

1997 • 103 citations

Studies of platelets in a variant of the Hermansky-Pudlak syndrome.

1971 • 102 citations

The Chediák-Higashi Syndrome

1962 • 99 citations

Platelet function in the Chediak-Higashi syndrome

1976 • 97 citations

DISTRIBUTION OF ANOMALOUS LYSOSOMES IN THE BEIGE MOUSE: A HOMOLOGUE OF CHEDIAK-HIGASHI SYNDROME

1973 • 97 citations

The Platelet Defect Associated with Albinism

1972 • 93 citations

The Chediak-Higashi syndrome of cats.

1977 • 93 citations

Studies of Abnormal Leukocyte Bodies in the Mink

1963 • 92 citations

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

1996 • 91 citations

Genetic defects in Chediak-Higashi syndrome and the beige mouse.

1998 • 91 citations

Genetics, Development, and Malignancy of Melanocytes

1993 • 89 citations

The Chediak-Higashi Syndrome: Formation of Giant Melanosomes and the Basis of Hypopigmentation**From the Division of Dermatology and the Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota 55455.

1967 • 86 citations

Chediak-Higashi Syndrome: Hereditary Gigantism of Cytoplasmic Organelles

1966 • 86 citations

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

1995 • 82 citations

Platelet function in the Chediak-Higashi syndrome

1976 • 81 citations

The Chediak-Higashi Syndrome and the Homologous Trait in Animals

1973 • 72 citations

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

1995 • 72 citations

A Human Pigmentary Dilution Based on a Heritable Subcellular Structural Defect—The Chediak-Higashi Syndrome**From the Departments of Pediatrics and Dermatology, University of Minnesota, Minneapolis.

1968 • 70 citations

Abnormal Platelet Function in Chediak‐Higashi Syndrome

1977 • 70 citations

A kindred with Griscelli disease: Spectrum of neurological involvement

1993 • 68 citations

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein

1997 • 67 citations

Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy.

1957 • 65 citations

Evidence that abnormal platelet functions in human Chédiak-Higashi syndrome are the result of a lack of dense bodies.

1983 • 65 citations

Chédiak and Higashi's Disease. Probable Identity of “A New Leucocytal Anomaly (Chédiak)” and “Congenital Gigantism of Peroxidase Granules (Higashi)”

1955 • 61 citations

Deficiency of active natural killer cells in the Chediak-Higashi syndrome. Localization of the defect using a single cell cytotoxicity assay.

1982 • 60 citations

Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome.

1994 • 60 citations

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia

2009 • 59 citations

Hermansky-Pudlak Syndrome in a Swiss Population

1993 • 57 citations

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

1996 • 57 citations

Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.

1998 • 54 citations

The Chediak-Higashi syndrome: Electrophysiological and electron microscopic observations on the peripheral neuropathy

1967 • 51 citations

Peripheral neuropathy in the Chediak-Higashi syndrome

1991 • 51 citations

Organization and Nucleotide Sequence of the Human Hermansky-Pudlak Syndrome (HPS) Gene

1997 • 51 citations

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

1998 • 50 citations

Hermansky-Pudlak syndrome (HPS): An epidemiologic study

1990 • 50 citations

Beige rat: a new animal model of Chediak-Higashi syndrome

1989 • 48 citations

The storage pool deficiency in platelets from humans with the Chédiak‐Higashi syndrome: study of six patients

1985 • 48 citations

A platelet abnormality in the Chediak-Higashi syndrome of man

1976 • 47 citations

Hermansky-Pudlak syndrome: A clinicopathologic study

1985 • 46 citations

Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

1996 • 45 citations

Griscelli disease with cerebral involvement

1991 • 44 citations

The Melanin Pigmentary Disorder in a Family with Hermansky-Pudlak Syndrome

1982 • 42 citations

Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

1988 • 40 citations

The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages.

1973 • 39 citations

Chediak-Higashi lymphoblastoid cell lines: Granule characteristics and expression of lysosome-associated membrane proteins

1992 • 32 citations

Griscelli syndrome: Report of Three Cases

1995 • 32 citations

Giant platelet granules in a child with the chediak‐higashi syndrome

1979 • 32 citations

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?

1994 • 32 citations

Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor γ chain in mouse and man

1987 • 30 citations

Partial Albinism, Immunodeficiency, and Progressive White Matter Disease: A New Primary Immunodefiency

1992 • 30 citations

Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes

1998 • 26 citations

PIGMENTARY CHANGES IN CHEDIAK-HIGASHI SYNDROME

2006 • 24 citations

Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes

1991 • 23 citations

PET studies of patients with partial epilepsy: visual interpretation vs. semi-quantification/quantification

1994 • 23 citations

Chediak-Higashi syndrome in rats: Light and electron microscopical characterization of abnormal granules in beige rats

1994 • 17 citations

Syndrome d'Hermansky-Pudlak dans un village valaisan

1983 • 13 citations

The Familial Histiocytoses

1985 • 13 citations

Linkage of loci associated with two pigment mutations on mouse chromosome 13

1991 • 12 citations