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Blood, ISSN 0006-4971, 08/2008, Volume 112, Issue 4, pp. 1503 - 1509
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9, p. e46307
Bone morphogenetic proteins (BMPs) are members of the transforming growth factor beta superfamily that exert their effects via type I and type II serine... 
Bone Morphogenetic Protein 5 - chemistry | Bone Morphogenetic Protein 6 - chemistry | Bone Morphogenetic Protein 7 - chemistry | Hemochromatosis Protein | Bone Morphogenetic Protein 7 - genetics | Humans | Nerve Tissue Proteins - chemistry | Transfection | Bone Morphogenetic Protein 6 - genetics | Solutions | Growth Differentiation Factors - genetics | Genes, Reporter | Cell Line | Cell Adhesion Molecules, Neuronal - chemistry | Signal Transduction | Membrane Proteins - genetics | Bone Morphogenetic Protein 5 - genetics | Recombinant Proteins - chemistry | Histocompatibility Antigens Class I - genetics | Recombinant Proteins - genetics | Histocompatibility Antigens Class I - chemistry | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | GPI-Linked Proteins - chemistry | Membrane Proteins - chemistry | Protein Binding | Ligands | Kinetics | GPI-Linked Proteins - genetics | Growth Differentiation Factors - chemistry | Physiological aspects | Bone morphogenetic proteins | Genetic aspects | Research | Protein binding | Smad protein | Phosphorylation | Nephrology | Transforming growth factor-b | Homeostasis | Intracellular signalling | Iron | Biology | Kinases | Medical schools | Proteins | Signal transduction | Receptors | Rodents | Growth factors | Binding | Bone morphogenetic protein 6 | Bone morphogenetic protein 5 | Bone morphogenetic protein 4 | Bone morphogenetic protein 2 | Threonine | Research & development--R&D | Anemia | Affinity | Protein-serine/threonine kinase | Surface plasmon resonance | Mutation | Bone | Receptor mechanisms | Bone morphogenetic protein 9 | Bone morphogenetic protein 7 | Research & development | R&D
Journal Article
Journal Article
Blood, ISSN 0006-4971, 2009, Volume 114, Issue 12, pp. 2515 - 2520
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0179369 - e0179369
Background The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic... 
UNFOLDED PROTEIN RESPONSE | ALPHA-ANTITRYPSIN DEFICIENCY | MULTIDISCIPLINARY SCIENCES | DISEASE | MUTANT ALPHA-1-ANTITRYPSIN | HERP | ENDOPLASMIC-RETICULUM STRESS | DEFI-ALPHA COHORT | MISFOLDED PROTEINS | SACCHAROMYCES-CEREVISIAE | INTACT YEAST-CELLS | alpha 1-Antitrypsin Deficiency - genetics | Cell Line | Liver - pathology | Membrane Proteins - genetics | Endoplasmic Reticulum-Associated Degradation - genetics | Humans | Liver - metabolism | Ubiquitin-Protein Ligases - metabolism | Male | Hemochromatosis Protein - metabolism | Mutation, Missense | alpha 1-Antitrypsin Deficiency - metabolism | Protein Aggregation, Pathological - pathology | Hemochromatosis Protein - genetics | Liver Cirrhosis - metabolism | Liver Cirrhosis - pathology | Female | Membrane Proteins - metabolism | Ubiquitin-Protein Ligases - genetics | Liver Cirrhosis - genetics | Protein Aggregation, Pathological - genetics | Protein Aggregation, Pathological - metabolism | Amino Acid Substitution | Usage | Cell death | Genetic aspects | Research | Liver cirrhosis | Alpha 1-antitrypsin deficiency | Risk factors | Genetic screening | Liver | Impairment | Gene sequencing | Machinery and equipment | Degradation | Proteins | Genetics | Genetic factors | Enzymes | Liver diseases | Mortality | Group dynamics | Diseases | Children & youth | Screening | Pathology | Cirrhosis | Hospitals | Aggregates | Mutation | Endoplasmic reticulum | Viability | Cell proliferation | Biotechnology | Yeast | Transcription | Laboratories | Toxicity | Genes | Medical services | Risk | Kinases | Autophagy | Machinery | Defects | Functional anatomy | Protein folding | Hepatology | Gastroenterology | Mathematical models | Children | Injuries | Biodegradation | Nutrition | Damage detection | Plasmids | Cell lines | Cholestasis | Index Medicus | Screens
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2011, Volume 141, Issue 5, pp. 1907 - 1914
Journal Article
Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 2011, Volume 17, Issue 12, pp. 707 - 713
Iron disorders of genetic origin are mainly composed of iron overload diseases, the most frequent being HFE-related hemochromatosis. Hepcidin deficiency... 
Pathology | OVERLOAD | MEDICINE, RESEARCH & EXPERIMENTAL | TRANSFERRIN RECEPTOR-2 | HOMOZYGOUS DELETION | COMPOUND HETEROZYGOSITY | JUVENILE HEMOCHROMATOSIS | HFE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HJV GENE | HEREDITARY HEMOCHROMATOSIS | CELL BIOLOGY | MUTATIONS | MOLECULAR-BASIS | Genetic Testing | Anemia, Iron-Deficiency - physiopathology | Hemochromatosis Protein | Humans | Hemochromatosis - blood | Receptors, Transferrin | Anemia, Iron-Deficiency - blood | Membrane Proteins - deficiency | Genes, Dominant | Hepcidins | Serine Endopeptidases - genetics | Cation Transport Proteins - genetics | Antimicrobial Cationic Peptides - blood | Cation Transport Proteins - deficiency | Hemochromatosis - genetics | Serine Endopeptidases - deficiency | Signal Transduction | Membrane Proteins - genetics | Rats | Histocompatibility Antigens Class I - genetics | Genes, Recessive | Iron - metabolism | Magnetic Resonance Imaging | Animals | Homeostasis - physiology | Anemia, Iron-Deficiency - diagnosis | Anemia, Iron-Deficiency - genetics | Mice | Hemochromatosis - diagnosis | Mutation | GPI-Linked Proteins - genetics | Hemochromatosis - physiopathology | Genetic research | Cellular proteins | Transferrin | Hemochromatosis | Molecular modelling | Nutrient deficiency | Reviews | Computed tomography | Anemia | Homeostasis | Iron | Hepcidin | Transferrin receptors | GPI-Linked Proteins | Histocompatibility Antigens Class I | Life Sciences | Serine Endopeptidases | Hépatology and Gastroenterology | Antimicrobial Cationic Peptides | Anemia, Iron-Deficiency | Membrane Proteins | Human health and pathology | Transcription Factors | Cation Transport Proteins
Journal Article
Journal Article