681 results match your criteria Hermansky-Pudlak Syndrome


Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 Feb 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability.

Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Read More

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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
February 2019

Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.

Reprod Fertil Dev 2019 Feb 21. Epub 2019 Feb 21.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder in humans and mice. Pale ear (ep) and pearl (pe) mice, bearing mutations in the biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes respectively, are mouse models of human HPS Type 1 (HPS1) and Type 2 (HPS2) respectively. In the present study we investigated and compared the reduced fertilities of ep and pe male mice. Read More

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http://dx.doi.org/10.1071/RD18339DOI Listing
February 2019

In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids.

Stem Cell Reports 2019 Jan 30. Epub 2019 Jan 30.

Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan.

It has been challenging to generate in vitro models of alveolar lung diseases, as the stable culture of alveolar type 2 (AT2) cells has been difficult. Methods of generating and expanding AT2 cells derived from induced pluripotent stem cells (iPSCs) have been established and are expected to be applicable to disease modeling. Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by dysfunction of lysosome-related organelles, such as lamellar bodies (LBs), in AT2 cells. Read More

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http://dx.doi.org/10.1016/j.stemcr.2019.01.014DOI Listing
January 2019

Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome.

Ophthalmic Genet 2019 Feb 4:1-3. Epub 2019 Feb 4.

b Hamilton Eye Institute, Department of Ophthalmology , University of Tennessee , Memphis , TN , USA.

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http://dx.doi.org/10.1080/13816810.2019.1571618DOI Listing
February 2019

Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.

Biosci Rep 2019 Feb 19;39(2). Epub 2019 Feb 19.

Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Genetics and Birth Defects Control Center, National Center for Children's Health; MOE Key Laboratory of Major Diseases in Children; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China

Atherosclerosis is characterized by the accumulation of lipid-rich plaques in the arterial wall. Its pathogenesis is very complicated and has not yet been fully elucidated. It is known that dyslipidemia is a major factor in atherosclerosis. Read More

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http://dx.doi.org/10.1042/BSR20182339DOI Listing
February 2019
2 Reads
2.637 Impact Factor

Comparative study of platelet aggregation and secretion induced by Bothrops jararaca snake venom and thrombin.

Toxicon 2019 Mar 21;159:50-60. Epub 2019 Jan 21.

Instituto Butantan, Laboratório de Fisiopatologia, Av. Dr. Vital Brazil, 1500, 05503-900, São Paulo, SP, Brazil; Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

Victims of Bothrops jararaca snakebites manifest bleedings, blood incoagulability, platelet dysfunction, and thrombocytopenia, and the latter has been directly implicated in the genesis of hemorrhagic diathesis. We addressed herein the direct effects of B. jararaca venom (BjV) on ex vivo platelet aggregation and granule secretion in washed human and mouse platelets. Read More

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http://dx.doi.org/10.1016/j.toxicon.2019.01.003DOI Listing
March 2019
2 Reads

Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series.

Eur J Haematol 2019 Jan 19. Epub 2019 Jan 19.

Department of Surgery, School of Medicine, Medical Sciences Campus, Universityof Puerto Rico.

The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of autosomal recessive disorders characterized by: oculocutaneous albinism (OCA); bleeding diathesis; and other systemic complications including: chronic granulomatous colitis, and pulmonary fibrosis. Despite HPS being a rare genetic disease worldwide, it is the most common single-gene disorder in the island of Puerto Rico (PR), particularly in the northwestern region, where it occurs with a frequency of 1:1,800 and where carrier frequency is estimated to be 1 out of 21 citizens. HPS thus represents a significant public health issue in PR. Read More

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http://dx.doi.org/10.1111/ejh.13210DOI Listing
January 2019
1 Read

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC Gastroenterol 2019 Jan 11;19(1). Epub 2019 Jan 11.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.

Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12876-019-0929-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123PMC
January 2019
11 Reads

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.

Haematologica 2019 Jan 10. Epub 2019 Jan 10.

ErasmusMC, University Medical Center Rotterdam

Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is crucial for platelet adhesion during primary hemostasis. Endosomal trafficking of proteins like CD63 to Weibel-Palade bodies during maturation is dependent on the adaptor protein complex 3 complex. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.207787DOI Listing
January 2019
6 Reads

Platelet-Dense Granules Worsen Pre-Infection Thrombocytopenia during Gram-Negative Pneumonia-Derived Sepsis.

J Innate Immun 2018 Dec 17:1-13. Epub 2018 Dec 17.

Center for Experimental and Molecular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Platelet-dense (δ) granules are important for platelet function. Platelets contribute to host defense and vascular integrity during pneumonia and sepsis, and δ granule products, including adenosine diphosphate (ADP), can influence inflammatory responses. We therefore aimed to study the role of platelet δ granules in the host response during sepsis. Read More

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http://dx.doi.org/10.1159/000494147DOI Listing
December 2018
2 Reads

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.017DOI Listing
November 2018
1 Read

Predictable and precise template-free CRISPR editing of pathogenic variants.

Nature 2018 11 7;563(7733):646-651. Epub 2018 Nov 7.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene disruption. Here, we show that template-free Cas9 editing is predictable and capable of precise repair to a predicted genotype, enabling correction of disease-associated mutations in humans. We constructed a library of 2,000 Cas9 guide RNAs paired with DNA target sites and trained inDelphi, a machine learning model that predicts genotypes and frequencies of 1- to 60-base-pair deletions and 1-base-pair insertions with high accuracy (r = 0. Read More

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http://www.nature.com/articles/s41586-018-0686-x
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http://dx.doi.org/10.1038/s41586-018-0686-xDOI Listing
November 2018
31 Reads
42.351 Impact Factor

Instability of BLOC-2 and BLOC-3 in Chinese Patients with Hermansky-Pudlak Syndrome.

Pigment Cell Melanoma Res 2018 Nov 2. Epub 2018 Nov 2.

Beijing Key Laboratory for Genetics of Birth Defects; MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency and other symptoms due to multiple defects in tissue-specific lysosome-related organelles. Ten HPS subtypes have been characterized with mutations in HPS1 to HPS10, which encode the subunits of BLOC-1, -2, -3, and AP-3. Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS-1, one HPS-3, one HPS-4, one HPS-5, and three HPS-6. Read More

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http://dx.doi.org/10.1111/pcmr.12748DOI Listing
November 2018
1 Read
4.620 Impact Factor

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Am J Med Genet A 2018 Dec 4;176(12):2819-2823. Epub 2018 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40514
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http://dx.doi.org/10.1002/ajmg.a.40514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312461PMC
December 2018
21 Reads

Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome.

BMJ Case Rep 2018 Oct 12;2018. Epub 2018 Oct 12.

Royal College of Surgeons in Ireland, Dublin, Ireland.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterised by oculocutaneous albinism, bleeding diathesis and end-stage renal disease (ESRD), due to interstitial deposition of ceroid lipofuscin. Renal transplantation is potentially a definitive treatment option for patients with ESRD due to HPS. Herein, we describe the case of a 55-year-old male patient with HPS that successfully underwent a living donor kidney transplant. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22337
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http://dx.doi.org/10.1136/bcr-2017-223376DOI Listing
October 2018
1 Read

ARAP1 Bridges Actin Dynamics and AP-3-Dependent Membrane Traffic in Bone-Digesting Osteoclasts.

iScience 2018 Aug 26;6:199-211. Epub 2018 Jul 26.

Biotechnology Center, Technische Universität Dresden, Tatzberg 47-51, Dresden 01307, Germany. Electronic address:

Bone-resorbing osteoclasts play a central role in bone remodeling and its pathology. To digest bone, osteoclasts re-organize both F-actin, to assemble podosomes/sealing zones, and membrane traffic, to form bone-facing ruffled borders enriched in lysosomal membrane proteins. It remains elusive how these processes are coordinated. Read More

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http://dx.doi.org/10.1016/j.isci.2018.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137390PMC
August 2018
1 Read

Sorting machineries: how platelet-dense granules differ from α-granules.

Biosci Rep 2018 10 7;38(5). Epub 2018 Sep 7.

Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China

Platelets respond to vascular injury via surface receptor stimulation and signaling events to trigger aggregation, procoagulant activation, and granule secretion during hemostasis, thrombosis, and vascular remodeling. Platelets contain three major types of secretory granules including dense granules (or δ-granules, DGs), α-granules (AGs), and lysosomes. The contents of platelet granules are specific. Read More

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http://dx.doi.org/10.1042/BSR20180458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127676PMC
October 2018
13 Reads

Mutation and the Lung Phenotype.

Authors:
Kazuhiro Osanai

Int J Mol Sci 2018 Jul 27;19(8). Epub 2018 Jul 27.

Department of Life Science, Medical Research Institute, Kanazawa Medical University, 1-1 Uchinada-Daigaku, Kahokugun, Ishikawa 920-0293, Japan.

is highly expressed in alveolar type II cells, melanocytes, and platelets. These cells are specifically-differentiated cells and contain characteristic intracellular organelles called lysosome-related organelles, i.e. Read More

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http://dx.doi.org/10.3390/ijms19082203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122074PMC
July 2018
1 Read

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

Mol Genet Metab 2018 Sep 23;125(1-2):168-173. Epub 2018 Jul 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Purpose: Limited information is available regarding chronic treatment with pirfenidone, an anti-fibrotic drug. Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder with highly penetrant pulmonary fibrosis.

Results: Three patients with HPS pulmonary fibrosis treated with open-label pirfenidone and twenty-one historical controls randomized to placebo were studied at a single center. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183030
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http://dx.doi.org/10.1016/j.ymgme.2018.07.012DOI Listing
September 2018
11 Reads

Systematic review of drug effects in humans and models with surfactant-processing disease.

Eur Respir Rev 2018 Sep 11;27(149). Epub 2018 Jul 11.

Interstitial Lung Disease Center of Excellence, Dept of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands

Fibrotic interstitial pneumonias are a group of rare diseases characterised by distortion of lung interstitium. Patients with mutations in surfactant-processing genes, such as surfactant protein C (), surfactant protein A1 and A2 ( and ), ATP binding cassette A3 () and Hermansky-Pudlak syndrome (, and ), develop progressive pulmonary fibrosis, often culminating in fatal respiratory insufficiency. Although many mutations have been described, little is known about the optimal treatment strategy for fibrotic interstitial pneumonia patients with surfactant-processing mutations. Read More

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http://dx.doi.org/10.1183/16000617.0135-2017DOI Listing
September 2018
6 Reads

Hermansky-Pudlak syndrome with a novel genetic variant in and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

Thorax 2018 Nov 25;73(11):1085-1088. Epub 2018 Jun 25.

Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.

The Hermansky-Pudlak syndrome (HPS) is a collection of autosomal-recessive disorders characterised by tyrosinase-positive oculocutaneous albinism (OCA), bleeding diatheses and, in selected individuals, early-onset accelerated pulmonary fibrosis, neutropaenia and granulomatous colitis. We describe a young man who presented following a self-directed literature review prompted by severe bleeding complications following minor surgical and dental procedures in the context of OCA. HPS was clinically suspected, with subsequent genetic testing confirming biallelic mutations in the gene. Read More

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http://dx.doi.org/10.1136/thoraxjnl-2018-211920DOI Listing
November 2018
17 Reads

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

Ophthalmic Genet 2018 08 21;39(4):450-456. Epub 2018 May 21.

a Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.

Background: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer.

Material And Methods: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease. Read More

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http://dx.doi.org/10.1080/13816810.2018.1474368DOI Listing
August 2018
3 Reads

Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment.

Exp Oncol 2018 Mar;40(1):73-78

State Institution "Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine", Lviv 79008, Ukraine.

Aim: To study the relationship between the genotype and the phenotype in the patients with Hermansky - Pudlak syndrome (HPS) associated with granulomatous colitis; to monitor clinical course of the disease for adequate treatment, cancer surveillance and genetic counseling.

Materials And Methods: The diagnosis of HPS is established by physical examination, chest X-ray, computed tomography, endoscopic examination with biopsy, and laboratory tests, including histology, baseline laboratory blood, urine and feces tests, determination of ASCA-C and ANCA antibodies using an ELISA. Molecular genetic testing for HPS gene mutations, R702W, G908R, L1007fs and P268S mutations in NOD2 gene, and TaqI variant of the VDR gene were carried out. Read More

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March 2018
2 Reads

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Orphanet J Rare Dis 2018 Mar 27;13(1):42. Epub 2018 Mar 27.

Ludwig-Maximilians University, Dr von Haunersches Kinderspital, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337, Munich, Germany.

Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.

Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded. Read More

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http://dx.doi.org/10.1186/s13023-018-0780-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870397PMC
March 2018
17 Reads

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

PLoS One 2018 16;13(3):e0194193. Epub 2018 Mar 16.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Pulmonary fibrosis is a progressive, fatal manifestation of Hermansky-Pudlak syndrome (HPS). Some patients with advanced HPS pulmonary fibrosis undergo lung transplantation despite their disease-associated bleeding tendency; others die while awaiting donor organs. The objective of this study is to determine the clinical management and outcomes of a cohort with advanced HPS pulmonary fibrosis who were evaluated for lung transplantation. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194193PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856338PMC
July 2018
10 Reads

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

Front Immunol 2018 31;9:76. Epub 2018 Jan 31.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

The immunome (immune cell phenotype, gene expression, and serum cytokines profiling) in pulmonary fibrosis is incompletely defined. Studies focusing on inherited forms of pulmonary fibrosis provide insights into mechanisms of fibrotic lung disease in general. To define the cellular and molecular immunologic phenotype in peripheral blood, high-dimensional flow cytometry and large-scale gene expression of peripheral blood mononuclear cells and serum proteomic multiplex analyses were performed and compared in a cohort with familial pulmonary fibrosis (FPF), an autosomal dominant disorder with incomplete penetrance; Hermansky-Pudlak syndrome pulmonary fibrosis (HPSPF), a rare autosomal recessive disorder; and their unaffected relatives. Read More

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797737PMC
January 2018
11 Reads

Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.

J Immunol 2018 03 2;200(6):2140-2153. Epub 2018 Feb 2.

Department of Molecular Microbiology and Immunology, Brown University, Providence, RI 02912;

Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by mutations that alter the function of lysosome-related organelles. Pulmonary fibrosis is the major cause of morbidity and mortality in HPS-1 and HPS-4 patients. However, the mechanisms that underlie the exaggerated injury and fibroproliferative repair responses in HPS have not been adequately defined. Read More

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http://www.jimmunol.org/lookup/doi/10.4049/jimmunol.1701442
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http://dx.doi.org/10.4049/jimmunol.1701442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839999PMC
March 2018
17 Reads
1 Citation
4.920 Impact Factor

Biogenesis of zinc storage granules in .

J Exp Biol 2018 Mar 19;221(Pt 6). Epub 2018 Mar 19.

Departamento de Fisiología, Biofísica y Neurociencias, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, C.P. 07360, México

Membrane transporters and sequestration mechanisms concentrate metal ions differentially into discrete subcellular microenvironments for use in protein cofactors, signalling, storage or excretion. Here we identify zinc storage granules as the insect's major zinc reservoir in principal Malpighian tubule epithelial cells of The concerted action of Adaptor Protein-3, Rab32, HOPS and BLOC complexes as well as of the white-scarlet (ABCG2-like) and ZnT35C (ZnT2/ZnT3/ZnT8-like) transporters is required for zinc storage granule biogenesis. Due to lysosome-related organelle defects caused by mutations in the homologous human genes, patients with Hermansky-Pudlak syndrome may lack zinc granules in beta pancreatic cells, intestinal paneth cells and presynaptic vesicles of hippocampal mossy fibers. Read More

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http://dx.doi.org/10.1242/jeb.168419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897703PMC
March 2018
11 Reads

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.

Genetics 2018 03 16;208(3):1131-1146. Epub 2018 Jan 16.

Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China

Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs). To date, 10 HPS genes have been identified, three of which belong to the octamer complex BLOC-1 (biogenesis of lysosome-related organelles complex 1). One subunit of the BLOC-1 complex, BLOS1, also participates in the BLOC-1-related complex (BORC). Read More

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http://dx.doi.org/10.1534/genetics.117.300621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844327PMC
March 2018
3 Reads

Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.

Am J Respir Cell Mol Biol 2018 May;58(5):566-574

1 Division of Neonatology and.

Defining the mechanisms of cellular pathogenesis in rare lung diseases such as Hermansky-Pudlak syndrome (HPS) is often complicated by loss of the differentiated phenotype of cultured primary alveolar type 2 (AT2) cells, as well as by a lack of durable cell lines that are faithful to both AT2-cell and rare disease phenotypes. We used CRISPR/Cas9 gene editing to generate a series of HPS-specific mutations in the MLE-15 cell line. The resulting MLE-15/HPS cell lines exhibit preservation of AT2 cellular functions, including formation of lamellar body-like organelles, complete processing of surfactant protein B, and known features of HPS specific to each trafficking complex, including loss of protein targeting to lamellar bodies. Read More

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http://dx.doi.org/10.1165/rcmb.2017-0324MADOI Listing
May 2018
5 Reads

A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4.

Blood Cells Mol Dis 2018 03 31;69:113-116. Epub 2017 Oct 31.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2017.10.005DOI Listing
March 2018
4 Reads

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.

Platelets 2018 Jan 1;29(1):91-94. Epub 2017 Nov 1.

a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.

Hermansky-Pudlak syndrome (HPS) - characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis-is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lamellar bodies, and cytotoxic T-cell lymphocyte granules). Immunodeficiency, pulmonary fibrosis and granulomatous colitis are associated with some, but not all subtypes of HPS, with varying degrees of clinical severity. We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. Read More

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http://dx.doi.org/10.1080/09537104.2017.1361019DOI Listing
January 2018
14 Reads

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

Pigment Cell Melanoma Res 2018 03 2;31(2):267-276. Epub 2017 Nov 2.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Read More

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http://dx.doi.org/10.1111/pcmr.12662DOI Listing
March 2018
9 Reads

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More

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http://dx.doi.org/10.1111/pde.13266DOI Listing
November 2017
12 Reads

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Cause Oculocutaneous Albinism and the Phenotype.

G3 (Bethesda) 2017 09 7;7(9):3123-3131. Epub 2017 Sep 7.

Department of Molecular and Cell Biology, University of California-Berkeley, California 94720

Here, we present and characterize the spontaneous X-linked recessive mutation , which causes oculocutaneous albinism in threespine sticklebacks (). In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. mutants display not only reduced pigmentation of melanosomes in melanophores, but also reductions in the iridescent silver color from iridophores, while the yellow pigmentation from xanthophores appears unaffected. Read More

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http://dx.doi.org/10.1534/g3.117.1125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592937PMC
September 2017
3 Reads

[Clinical and genetic aspects of albinism].

Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.

CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.

Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07554982173025
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http://dx.doi.org/10.1016/j.lpm.2017.05.020DOI Listing
September 2017
5 Reads

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Pigment Cell Melanoma Res 2017 Jan 20;30(6):563-570. Epub 2017 Oct 20.

Service Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosome-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome-related organelles complex-2 (BLOC-2). Read More

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http://dx.doi.org/10.1111/pcmr.12608DOI Listing
January 2017
21 Reads

Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.

Hum Mutat 2017 10 15;38(10):1402-1411. Epub 2017 Jun 15.

Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.

Hermansky-Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta-3A subunit of the adaptor protein (AP)-3 complex (AP3B1 gene). We describe five unreported cases with four novel mutations, one of which caused aberrant pre-mRNA splicing. A point mutation c. Read More

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http://doi.wiley.com/10.1002/humu.23271
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http://dx.doi.org/10.1002/humu.23271DOI Listing
October 2017
25 Reads

Exogenous gene transfer of Rab8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats.

Respir Res 2017 04 24;18(1):70. Epub 2017 Apr 24.

Department of Respiratory Medicine, Kanazawa Medical University, 1-1 Uchinada-Daigaku, Kahokugun, Ishikawa, 920-0293, Japan.

Background: Rab8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells. Read More

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http://dx.doi.org/10.1186/s12931-017-0549-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402648PMC
April 2017
20 Reads

Super-resolution microscopy in the diagnosis of platelet granule disorders.

Expert Rev Hematol 2017 05 13;10(5):375-381. Epub 2017 Apr 13.

c MRC Laboratory for Molecular Cell Biology , University College London , London , UK.

Introduction: Platelet granule deficiencies lead to bleeding disorders, but their specific diagnosis typically requires whole mount transmission electron microscopy, which is often not available and has a number of important limitations. We recently proposed the use of advanced forms of fluorescence microscopy - the so-called 'super-resolution' microscopies - as a possible solution. Areas covered: In this special report, we review the diagnosis of platelet granule deficiencies, and discuss how recent developments in fluorescence microscopy may be useful in improving diagnostic approaches to these and related disorders. Read More

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http://dx.doi.org/10.1080/17474086.2017.1315302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5942152PMC
May 2017
5 Reads

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

PLoS One 2017 15;12(3):e0173682. Epub 2017 Mar 15.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173682PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351877PMC
September 2017
14 Reads

A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.

Mol Genet Genomics 2017 Jun 13;292(3):663-670. Epub 2017 Mar 13.

Aquatic Genomics Unit, Fish Molecular Genetics and Biotechnology Laboratory, School of Fisheries, Aquaculture and Aquatic Sciences, Auburn University, Auburn, AL, 36849, USA.

Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. Read More

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http://dx.doi.org/10.1007/s00438-017-1302-8DOI Listing
June 2017
15 Reads

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.

Blood Cells Mol Dis 2017 09 6;67:75-80. Epub 2017 Mar 6.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10). Read More

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http://dx.doi.org/10.1016/j.bcmd.2017.03.001DOI Listing
September 2017
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Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

Purpose: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017
9 Reads

Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.

ACG Case Rep J 2017 18;4:e14. Epub 2017 Jan 18.

Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. Read More

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http://dx.doi.org/10.14309/crj.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5247631PMC
January 2017
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Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.

J Thromb Haemost 2017 04 23;15(4):792-801. Epub 2017 Feb 23.

Sol Sherry Thrombosis Research Center, Temple University School of Medicine, Philadelphia, PA, USA.

Essentials Platelet dense granule (DG) deficiency is a major abnormality in RUNX1 haplodeficiency patients. The molecular mechanisms leading to the platelet DG deficiency are unknown. Platelet expression of PLDN (BLOC1S6, pallidin), involved in DG biogenesis, is regulated by RUNX1. Read More

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http://doi.wiley.com/10.1111/jth.13619
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http://dx.doi.org/10.1111/jth.13619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378588PMC
April 2017
4 Reads

Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Authors:

Ann Am Thorac Soc 2017 Jan;14(1):152

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http://dx.doi.org/10.1513/AnnalsATS.141erratumDOI Listing
January 2017
19 Reads