Research Topics
Genomes and Genes
| Michael Harris-LoveSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
Optic atrophies in metabolic disordersMarjan Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 86:51-60. 2005..For many metabolic disorders, molecular testing is available...
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrinAmanda Helip-Wooley
Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
BMC Cell Biol 6:33. 2005..HPS type-3 (HPS-3) results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE) at residues 172-176...- Hermansky-Pudlak syndrome: vesicle formation from yeast to manMarjan Huizing
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
Pigment Cell Res 15:405-19. 2002..Pursuit of the mechanism of mammalian vesicle formation and trafficking, impaired in HPS, relies upon investigation of these mouse models as well as studies of protein complexes involved in yeast vacuole formation... 
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 100:149-54. 2010..These findings thus place the cellular metabolic defect of 3-MGCA type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology...- Disorders of lysosome-related organelle biogenesis: clinical and molecular geneticsMarjan Huizing
Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Genomics Hum Genet 9:359-86. 2008..In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders... - Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6M Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
J Med Genet 46:803-10. 2009..Of the eight human HPS subtypes, only subtypes 1 through 5 are well described... - Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndromeMarjan Huizing
National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892 1851, USA
Platelets 18:150-7. 2007..Thus, it is unlikely that the generalized bleeding diathesis of HPS is attributed to a deficiency of alpha granules... - Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5Marjan Huizing
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Traffic 5:711-22. 2004..This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype... - Allele-specific silencing of the dominant disease allele in sialuria by RNA interferenceRiko D Klootwijk
Medical Genetics Branch, NHGRI, NIH, 10 Center Dr, MSC 1851, Bethesda, MD 20892, USA
FASEB J 22:3846-52. 2008..These findings indicate that allele-specific silencing of a mutated allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria... - Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromesM Huizing
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
Curr Mol Med 2:451-67. 2002..Mouse and Drosophila models provide candidates for new genes causing HPS in humans. These genes will reveal the pathways by which specialized vesicles of lysosomal lineage arise within cells... - Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:1022-32. 2001..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS... - CTNS mutations in African American patients with cystinosisR Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
Mol Genet Metab 74:332-7. 2001..We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients... - Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Pediatr Res 47:17-23. 2000..Each of these mechanisms could result in minimally reduced lysosomal cystine transport in the kidneys... - Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 28:376-80. 2001..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation... - The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical regionC Phornphutkul
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:712-21. 2001..These findings suggest that the CTNS promoter region should be examined in patients with cystinosis who have fewer than two coding-sequence mutations... - Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCRA E Griffin
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Clin Genet 68:23-30. 2005.... 
Novel mutations in the HPS1 gene among Puerto Rican patientsC Carmona-Rivera
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Clin Genet 79:561-7. 2011..M325WfsX6). These findings indicate that, among Puerto Ricans, other HPS1 mutations apart from the 16-bp duplication should be considered in the analysis of this population...- Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locusM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, Bethesda, Maryland 20892 1830, USA
Mol Genet Metab 74:217-25. 2001..Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined... - Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33M Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA
Gene 264:241-7. 2001..This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases... - Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Marjan Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
Pediatr Res 51:150-8. 2002..Our findings expand the molecular, cellular, and clinical spectrum of HPS-2 and call for an increased index of suspicion for this diagnosis among patients with features of albinism, bleeding, and neutropenia... - Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and traffickingM Huizing
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA
Thromb Haemost 86:233-45. 2001..These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene productsinvolved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells... - AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Biol Cell 12:2075-85. 2001..Finally, our studies demonstrate that tyrosinase and TRP-1 use different mechanisms to reach their premelanosomal destination... - Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detectionM Huizing
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Genet 106:370-3. 2000..g., exons 2-5) for mutation detection might lead to false positives for mutations, if the cDNA is contaminated with gDNA. This calls for caution when employing these screening approaches... - Molecular defects that affect platelet dense granulesMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Semin Thromb Hemost 30:537-47. 2004..The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi... - Biochemical and molecular analyses of infantile free sialic acid storage disease in North American childrenRobert Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Building 10 Room 10C-103, Bethesda, MD 20892-1851, USA
Am J Med Genet A 120:28-33. 2003..These observations emphasize the importance of considering free sialic acid disorders in infants with developmental delays and growth retardation, regardless of whether they are of Finnish ancestry... - A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Development 137:2587-96. 2010..In summary, this paper introduces a faithful Costeff Syndrome model and demonstrates a requirement for mitochondrial OPA3 to limit HMG-CoA-derived MGC and protect the electron transport chain against inhibitory compounds... - Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican casesChristina R Hermos
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892 1851, USA
Hum Mutat 20:482. 2002..These complications are common among Puerto Rican HPS-1 patients but have not appeared in HPS-2 or HPS-3 patients. The diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications... - Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristicsPaul D Anderson
Medical Genetics Branch, MSC 1851, Building 10, Room 10C 103, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892 1851, USA
Hum Genet 113:10-7. 2003.... - Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B-203, Bethesda, MD 20892-3717, USA
J Med Genet 43:496-500. 2006..Based on our data, microdeletion testing should be considered as part of an evaluation of holoprosencephaly, especially in severe HPE cases... - Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Blood 116:4990-5001. 2010..This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421... - Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano
Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 208921851, USA
J Clin Invest 117:1585-94. 2007..The results also support evaluation of ManNAc as a treatment not only for HIBM but also for renal disorders involving proteinuria and hematuria due to podocytopathy and/or segmental splitting of the glomerular basement membrane... - Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5Amanda Helip-Wooley
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 1851, USA
J Invest Dermatol 127:1471-8. 2007..We conclude that early stage melanosome formation and Pmel17 trafficking are preserved in HPS5-deficient cells. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes... - Analysis of ocular hypopigmentation in Rab38cht/cht miceBrian P Brooks
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 48:3905-13. 2007..To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome... - Hermansky-Pudlak syndrome in two African-American brothersMelissa A Merideth
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Am J Med Genet A 149:987-92. 2009..A history of easy bruising or evidence of a bleeding disorder, combined with some degree of hypopigmentation, should prompt investigation into the diagnosis of HPS... - Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1Ekaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 111:1599-603. 2004..To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3)... - Hermansky-Pudlak syndrome type 1 in patients of Indian descentLisa M Vincent
Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bldg 10, Rm 10C107, MSC1851, Bethesda, MD 20892 1851, USA
Mol Genet Metab 97:227-33. 2009..398+5G>A and c.980-1G>T, to ensure that patients can be monitored and treated for clinical complications unique to HPS... - MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
J Pediatr 155:386-92.e1. 2009..To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)... - Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutationsMarjan Huizing
Medical Genetics Branch, National Human Genome Research Institute NIH, Bethesda, MD, USA
Mol Genet Metab 81:196-202. 2004..These findings resemble those found for other congenital muscular dystrophies, suggesting that HIBM may be a "dystroglycanopathy," and providing an explanation for the muscle weakness of patients with GNE mutations... - Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
Hum Mutat 30:1611-9. 2009..This study provides valuable resources for molecular analysis of alkaptonuria and expands our knowledge of the molecular basis of this disease... - PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisMeral Gunay-Aygun
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Mol Genet Metab 99:160-73. 2010..In the meantime, use of PKHD1 sequencing data for clinical decisions requires caution, especially when only novel or rare missense variants are identified... - Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
Am J Med Genet A 152:1474-83. 2010..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient... - Eye movement abnormalities in hermansky-pudlak syndromeLibe Gradstein
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
J AAPOS 9:369-78. 2005..Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied... - Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)Y Anikster
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Genet Metab 66:111-6. 1999..The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion... - Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathySusan E Sparks
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Glycobiology 15:1102-10. 2005..This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes... - Hereditary inclusion body myopathy: a decade of progressMarjan Huizing
Cell Biology of Metabolic Disorders Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Biochim Biophys Acta 1792:881-7. 2009..Recent advances in therapeutic approaches for HIBM, including administration of N-acetyl-mannosamine (ManNAc), a precursor of Neu5Ac will be discussed... - Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathyEmily Gottlieb
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA
Mol Genet Metab 86:244-9. 2005..These data are valuable for future studies on the role of DAG1 in HIBM and other muscular dystrophies, especially those dystrophies that involve abnormal glycosylation of dystroglycan... - Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndromeTehila Hyman
Laboratory of Cellular Carcinogenesis and Tumor Promotion, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Br J Haematol 122:142-9. 2003.... - Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotypeNadeem Hussain
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Clin Gastroenterol Hepatol 4:73-80. 2006..This study aimed to document the occurrence of colitis among HPS patients, characterize gastrointestinal tract involvement in HPS, and analyze the distribution of colitis among HPS genotypes... - Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Neurol 7:3. 2007..Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM... - Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5AYair Anikster
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892 1830, USA
Am J Hum Genet 71:407-14. 2002.... - Clinical features of spinal and bulbar muscular atrophyLindsay E Rhodes
Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA
Brain 132:3242-51. 2009.... - Defining Clinical Improvement in Adult and Juvenile MyositisLisa G Rider
Enviromental Autoimmunity Group, National Institute of Enviromental Health Sciences, National Institutes of Health, Bethesda, MD 20892, USA
J Rheumatol 30:603-17. 2003..This workshop is the first of several planned to develop multidisciplinary, international consensus on the conduct and reporting of IIM clinical trials... - Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani
Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Am J Respir Crit Care Med 180:1114-21. 2009..The etiology of pulmonary fibrosis associated with HPS-1 is unknown... - Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Ann Hum Genet 73:422-8. 2009..These findings illustrate the power of phylogenetic footprinting for identifying potential regulatory regions in non-coding sequences and define the first putative promoter elements for any HPS genes... - Natural history of alkaptonuriaChanika Phornphutkul
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892-1851, USA
N Engl J Med 347:2111-21. 2002..Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation... - Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studiesNilo A Avila
Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center, National Institutes of Health, Bldg. 10, Rm. 1C-660, 10 Center Dr, MSC 1182, Bethesda, MD 20892-1182, USA
AJR Am J Roentgenol 179:887-92. 2002..CONCLUSION: High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings... - Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin
Division of Medical Genetics, Department of Pediatrics, St Louis Children s Hospital, Washington University, St Louis, MO 63110, USA
Am J Med Genet A 120:23-7. 2003..Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease... - Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)Steven L Ciciotte
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Blood 101:4402-7. 2003.... - Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosisEsther B Bachli
Department of Medicine, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland
Am J Med Genet A 127:201-7. 2004..We conclude that pulmonary fibrosis occurs as part of HPS-4 and that HPS should be considered in all ethnic groups... - An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeRamin Nazarian
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Mol Genet Metab 93:134-44. 2008.... - Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complexBabette Gwynn
The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA
Blood 104:3181-9. 2004..Defects in all the 5 known components of BLOC-1, including RP, cause severe HPS in mice, suggesting that the subunits are nonredundant and that BLOC-1 plays a key role in organelle biogenesis... - A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir
Department of Ophthalmology, Hadassah--Hebrew University Hospital, Jerusalem, Israel
Hum Mutat 27:1158. 2006..Two major genetic isolates of HPS-1 and HPS-3 patients were previously diagnosed in Puerto Rico. The extended Bedouin family is the largest isolate of non-Puerto Rican HPS patients... - The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granulesSreenivasulu Chintala
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
Blood 109:1533-40. 2007..Unlike HPS or CHS genes, it has no apparent effect on other lysosome-related organelles such as melanosomes or lysosomes. The ash-Roswell mouse mutant is an appropriate model for human congenital-isolated delta-storage pool deficiency... - Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotypeWendy Westbroek
J Invest Dermatol 127:2674-7. 2007 - Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cellsSreenivasulu Chintala
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Proc Natl Acad Sci U S A 102:10964-9. 2005..Thus, we have found that the Slc7a11 gene controls the production of pheomelanin pigment directly. Cells from sut mice provide a model for oxidative stress-related diseases and their therapies... - Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo traffickingBonnie Richmond
Department of Dermatology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
J Invest Dermatol 124:420-7. 2005..These data demonstrate that the three initially identified subtypes of human HPS exhibit distinct defects in the trafficking of various melanocyte-specific proteins... - Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3Raymond E Boissy
Department of Dermatology, University of Cincinnati College of Medicine, 231 Albert Sabin Way, ML 0592, Cincinnati, OH 45267 0592, USA
Am J Pathol 166:231-40. 2005..These results suggest that a specific subset of melanocyte proteins are aberrantly trafficked throughout the HPS-3 melanocyte and may be responsible for the reduction in melanin synthesis... - Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsWendy Westbroek
Department of Dermatology, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
Pigment Cell Res 17:498-505. 2004..Our data suggest that up-regulated Rab27b in melanocytes of the Griscelli patient can partially take over the function of Rab27a, which could explain the fact that this patient had an evenly pigmented skin and was able to tan... - A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5Lindy Anne Korswagen
Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands
Eur J Haematol 80:356-60. 2008..In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here... - Rab7 and Rab27a control two motor protein activities involved in melanosomal transportIngrid Jordens
Department of Tumour Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
Pigment Cell Res 19:412-23. 2006.... - Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathyPaul J M Savelkoul
Mol Genet Metab 88:389-90. 2006 - Ileal Crohn's disease in a woman with Hermansky-Pudlak syndromeAntoine De Leusse
, , Paris
Gastroenterol Clin Biol 30:621-4. 2006..Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative. Symptoms and ileal ulcerations which recurred after surgery were successfully treated with azathioprine and infliximab...