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Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, pp. 630 - 646
Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and,... 
B cells | RNA processing | Roifman syndrome | platelets | DEVELOPMENTAL DISORDER | HERMANSKY-PUDLAK-SYNDROME-1 HPS1 | PLATELET | DISORDER MOPD I | IMMUNOLOGY | BAFF-R | MINOR SPLICEOSOME | BIOGENESIS | ALLERGY | U4ATAC SNRNA | EXPRESSION | IMMUNODEFICIENCY | Retinal Diseases - genetics | Cell Proliferation | Humans | Child, Preschool | Infant | Protein Splicing - genetics | Blood Platelets - physiology | Cardiomyopathies - genetics | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Mitogen-Activated Protein Kinase 1 - genetics | Cell Differentiation | Child | Cells, Cultured | B-Lymphocytes - physiology | Megakaryocytes - physiology | Signal Transduction - genetics | Whole Exome Sequencing | Cell Lineage | Pedigree | Adolescent | Immunologic Deficiency Syndromes - genetics | Precursor Cells, B-Lymphoid - physiology | Mitogen-Activated Protein Kinase 1 - metabolism | Flow cytometry | Growth rate | Genes | Cognitive ability | Hypogammaglobulinemia | snRNA | Defects | Gene sequencing | Dwarfism | Proteins | Genotype & phenotype | Tubulin | Blood platelets | Actin | Lymphocytes | Megakaryocytes | Thrombocytopenia | Dysplasia | Splicing | MAP kinase | Patients | Ribonucleic acids | Lymphocytes B | Granular materials | Protein kinase | Differentiation | Platelets | Binding sites
Journal Article
Experimental Cell Research, ISSN 0014-4827, 09/2013, Volume 319, Issue 15, pp. 2360 - 2367
A fully functional immune system is essential to protect the body against pathogens and other diseases, including cancer. Vesicular trafficking provides the... 
Griscelli Syndrome Type 2 | Rab27a | Muc13-4 | Rab GTPases | Immunodeficiencies | Familial Hemophagocytic Lymphohistiocytosis Type 3 | LYTIC GRANULES | GRANULE EXOCYTOSIS | Lymphohistiocytosis Type 3 | MYOSIN VA | FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | SURFACE EXPRESSION | HERMANSKY-PUDLAK-SYNDROME | CELL BIOLOGY | TIGHT JUNCTIONS | ONCOLOGY | Familial Hemophagocytic | IMMUNODEFICIENCY-VIRUS TYPE-1 | MUTATIONS | T-CELLS | Crohn Disease - genetics | Immunologic Deficiency Syndromes - pathology | Lymphohistiocytosis, Hemophagocytic - pathology | Humans | Crohn Disease - metabolism | Chediak-Higashi Syndrome - pathology | rab GTP-Binding Proteins - genetics | T-Lymphocytes, Cytotoxic - pathology | Membrane Proteins - metabolism | Chediak-Higashi Syndrome - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Chediak-Higashi Syndrome - genetics | rab GTP-Binding Proteins - metabolism | Hermanski-Pudlak Syndrome - metabolism | Signal Transduction | Membrane Proteins - genetics | Piebaldism - genetics | Gene Expression Regulation | Transport Vesicles - pathology | Piebaldism - pathology | Piebaldism - metabolism | Protein Transport | Hermanski-Pudlak Syndrome - genetics | T-Lymphocytes, Cytotoxic - metabolism | Crohn Disease - pathology | Transport Vesicles - metabolism | Lymphohistiocytosis, Hemophagocytic - metabolism | Hermanski-Pudlak Syndrome - pathology | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | rab27 GTP-Binding Proteins | Mutation | Proteins | Immunogenetics | G proteins | Genomics | Cells | Immunodeficiency | Signal transduction | Cellular biology | Immune system
Journal Article
Clinics in Chest Medicine, ISSN 0272-5231, 09/2016, Volume 37, Issue 3, pp. 505 - 511
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis,... 
Biogenesis of lysosome-related organelle complex | Pulmonary fibrosis | Adaptor protein 3 | Albinism | Hermansky-Pudlak syndrome | Interstitial lung disease | MUTATION SCREEN REVEALS | FORM | SUSCEPTIBILITY | COLITIS | RESPIRATORY SYSTEM | INFLAMMATION | MOUSE MODEL | SYNDROME TYPE-2 | LUNG-DISEASE | PULMONARY-FIBROSIS | IMMUNODEFICIENCY | Epistaxis - etiology | Hemorrhagic Disorders - physiopathology | Pulmonary Veins - abnormalities | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Hypertension, Pulmonary - physiopathology | Telangiectasis - physiopathology | Epistaxis - physiopathology | Arteriovenous Malformations - physiopathology | Intracranial Arteriovenous Malformations - physiopathology | Albinism, Oculocutaneous - physiopathology | Hemorrhagic Disorders - complications | Liver Diseases - etiology | Intracranial Arteriovenous Malformations - etiology | Crohn Disease - etiology | Pulmonary Fibrosis - etiology | Albinism - physiopathology | Blood Coagulation Disorders - etiology | Arteriovenous Malformations - etiology | Pulmonary Artery - abnormalities | Albinism - complications | Albinism, Oculocutaneous - etiology | Telangiectasis - etiology | Hermanski-Pudlak Syndrome - complications | Pulmonary Fibrosis - physiopathology | Hermanski-Pudlak Syndrome - physiopathology | Crohn Disease - physiopathology | Liver Diseases - physiopathology | Hypertension, Pulmonary - etiology | Blood Coagulation Disorders - physiopathology
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 1, pp. 54 - 65
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 03/2013, Volume 26, Issue 2, pp. 176 - 192
Journal Article
Journal Article