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Blood, ISSN 0006-4971, 12/2012, Volume 120, Issue 26, pp. 5143 - 5152
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive marrow failure syndrome with a predisposition to leukemia. SDS patients harbor biallelic mutations... 
YEAST | CELLS | EUKARYOTIC TRANSLATION INITIATION | BLACKFAN ANEMIA | GENE | P53 PROTEIN OVEREXPRESSION | BONE-MARROW | SBDS | HEMATOLOGY | SACCHAROMYCES-CEREVISIAE | HEMATOPOIETIC PROGENITORS | Exocrine Pancreatic Insufficiency - genetics | Exocrine Pancreatic Insufficiency - metabolism | Protein Binding - genetics | Stromal Cells - pathology | Humans | Lipomatosis - metabolism | Gene Knockdown Techniques | Hematopoiesis - drug effects | Transfection | Eukaryotic Initiation Factors - physiology | Lipomatosis - pathology | Protein Binding - drug effects | Protein Multimerization - physiology | Protein Multimerization - genetics | Stromal Cells - drug effects | Bone Marrow Cells - drug effects | Hematopoiesis - physiology | Infant, Newborn | Eukaryotic Initiation Factors - genetics | Eukaryotic Initiation Factors - metabolism | Proteins - physiology | Exocrine Pancreatic Insufficiency - pathology | RNA, Small Interfering - pharmacology | Stromal Cells - metabolism | Bone Marrow Cells - pathology | Cells, Cultured | Bone Marrow Diseases - metabolism | Hematopoiesis - genetics | Bone Marrow Diseases - pathology | Lipomatosis - genetics | Bone Marrow Diseases - genetics | Proteins - genetics | Proteins - metabolism | Bone Marrow Cells - metabolism | Protein Multimerization - drug effects | Ribosome Subunits - metabolism | Hematopoiesis and Stem Cells
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2016, Volume 90, Issue 4, pp. 334 - 342
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 08/2015, Volume 90, Issue 8, pp. 702 - 708
Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman–Diamond syndrome... 
RESPONSES | IN-VITRO | COLONY-STIMULATING FACTOR | FANCONI-ANEMIA PATIENTS | DYSKERATOSIS-CONGENITA | MONONUCLEAR-CELLS | VIRUS-LIKE PARTICLES | NECROSIS-FACTOR-ALPHA | HEMATOLOGY | APLASTIC-ANEMIA | IMMUNODEFICIENCY | Hemoglobinuria, Paroxysmal - congenital | Dyskeratosis Congenita - drug therapy | Humans | Lipomatosis - congenital | Child, Preschool | Male | Anemia, Aplastic | Exocrine Pancreatic Insufficiency - diagnosis | Adrenal Cortex Hormones - therapeutic use | Exocrine Pancreatic Insufficiency - immunology | Dyskeratosis Congenita - diagnosis | T-Lymphocytes - drug effects | Tumor Necrosis Factor-alpha - immunology | Fanconi Anemia - pathology | B-Lymphocytes - pathology | Anemia, Diamond-Blackfan - pathology | Hemoglobinuria, Paroxysmal - diagnosis | Child | Membrane Proteins - biosynthesis | B-Lymphocytes - immunology | Anemia, Diamond-Blackfan - drug therapy | Bone Marrow Diseases - immunology | Adolescent | Bone Marrow Diseases - congenital | Lipomatosis - diagnosis | T-Lymphocytes - immunology | Fanconi Anemia - immunology | Killer Cells, Natural - drug effects | Granulocyte Colony-Stimulating Factor - immunology | Tumor Necrosis Factor-alpha - biosynthesis | Bone Marrow Diseases - diagnosis | Anemia, Diamond-Blackfan - immunology | Infant | Killer Cells, Natural - pathology | Case-Control Studies | Hemoglobinuria, Paroxysmal - immunology | Bone Marrow Diseases - drug therapy | Phytohemagglutinins - pharmacology | Killer Cells, Natural - immunology | Adult | Female | T-Lymphocytes - pathology | Immunoglobulins - biosynthesis | Cytokines - immunology | Exocrine Pancreatic Insufficiency - drug therapy | Lipomatosis - drug therapy | Membrane Proteins - immunology | Anemia, Diamond-Blackfan - diagnosis | Lipomatosis - immunology | B-Lymphocytes - drug effects | Fanconi Anemia - diagnosis | Granulocyte Colony-Stimulating Factor - biosynthesis | Interferon-gamma - immunology | Hemoglobinuria, Paroxysmal - drug therapy | Dyskeratosis Congenita - pathology | Family | Aged | Primary Cell Culture | Fanconi Anemia - drug therapy | Dyskeratosis Congenita - immunology | Cytokines - biosynthesis | Exocrine Pancreatic Insufficiency - congenital | Interferon-gamma - biosynthesis | immune deficiency | cytokines | Inherited bone marrow failure syndromes
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2015, Volume 11, Issue 6, p. e1005288
Journal Article
British Journal of Radiology, ISSN 0007-1285, 2016, Volume 89, Issue 1067, p. 20150811
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8, p. e0136571
Highly active antiretroviral therapy has remarkably improved quality of life of HIV-1-infected patients. However, this treatment has been associated with the... 
WHITE | MULTIDISCIPLINARY SCIENCES | DISTINCT | LMNA | GENE-EXPRESSION | LIPODYSTROPHY | FAT | PREVALENCE | HIV-1 INFECTION | BUFFALO HUMP | ADIPOSE-TISSUE | Adipocytes, Brown - pathology | Gene Expression | HIV-1 - pathogenicity | Ion Channels - biosynthesis | Subcutaneous Fat - virology | HIV Infections - virology | Humans | Middle Aged | Antiretroviral Therapy, Highly Active - adverse effects | Male | Transcription Factors - biosynthesis | Mitochondrial Proteins - biosynthesis | Subcutaneous Fat - pathology | Adipocytes, White - pathology | HIV Infections - pathology | Lipomatosis - pathology | HIV Infections - complications | Lipomatosis - virology | Female | HIV Infections - drug therapy | Lipomatosis - complications | Uncoupling Protein 1 | Cell Lineage - genetics | Cell proliferation | Therapy | Senescence | Adipose tissue | Biochemistry | Mitochondrial DNA | Adipocytes | Proteins | Highly active antiretroviral therapy | Antiretroviral agents | Human immunodeficiency virus--HIV | Adipose tissue (brown) | Expansion | Adipogenesis | Phenotypes | Lipomatosis | Metabolism | Gene expression | Patients | Molecular chains | Quality of life | Infectious diseases | Hospitals | Lipoatrophy | Fibrosis | Molecular biology | Hypertrophy | Adipose tissues | Inflamació | Teixit adipós | VIH (Virus) | Inflammation | HIV (Viruses) | Expressió gènica | HIV | Human immunodeficiency virus
Journal Article