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British journal of cancer, ISSN 0007-0920, 06/2017, Volume 117, Issue 1, pp. 136 - 143
Journal Article
PloS one, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, pp. e58031 - e58031
Purpose: To identify a novel pathogenic gene mutation present in a Chinese family with hereditary hemorrhagic telangiectasia (HHT) and to determine if an... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Protein Binding - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Child, Preschool | Molecular Sequence Data | Gastric Mucosa - pathology | Male | Telangiectasia, Hereditary Hemorrhagic - genetics | RNA, Messenger - metabolism | Antigens, CD - genetics | Antigens, CD - metabolism | Endoglin | Base Sequence | China | Adult | Female | Transcription, Genetic | Genetic Predisposition to Disease | Introns - genetics | RNA, Messenger - genetics | Receptors, Cell Surface - metabolism | Up-Regulation - genetics | Binding Sites - genetics | Mutation - genetics | Down-Regulation - genetics | Pedigree | Activin Receptors, Type II - genetics | Family | Consensus Sequence - genetics | Receptors, Cell Surface - genetics | Telangiectasis | RNA | Gene mutations | Genes | Genetic aspects | Genetic transcription | ACVRL1 gene | Chain mobility | Hematology | Gene regulation | Hereditary hemorrhagic telangiectasia | Gene deletion | Kinases | Sp1 protein | Gene expression | Assaying | Patients | Hemorrhage | Gene sequencing | Defects | Polymerase chain reaction | Genotype & phenotype | Electrophoretic mobility | Gene rearrangement | Point mutation | Qian Yu | Mutation | Endoscopy | Deoxyribonucleic acid--DNA | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
International journal of oncology, ISSN 1019-6439, 01/2017, Volume 50, Issue 1, pp. 193 - 202
Journal Article
Free radical biology & medicine, ISSN 0891-5849, 10/2016, Volume 99, pp. 308 - 322
Protein homeostasis in cells, proteostasis, is maintained through several integrated processes and pathways and its dysregulation may mediate pathology in many... 
mdx | ER stress | Myostatin | UPR | Biochemistry & Molecular Biology | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Sirtuin 1 - metabolism | Activin Receptors, Type II - metabolism | Endoribonucleases - genetics | eIF-2 Kinase - metabolism | Humans | Activin Receptors, Type II - antagonists & inhibitors | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | Activating Transcription Factor 6 - genetics | Sirtuin 1 - genetics | Heat-Shock Proteins - genetics | Thioredoxins - genetics | Muscle, Skeletal - drug effects | Mice, Inbred mdx | Eukaryotic Initiation Factor-2 - metabolism | Thioredoxins - metabolism | Phosphorylation - drug effects | Muscular Dystrophy, Duchenne - therapy | Proteostasis - drug effects | Physical Conditioning, Animal | Protein-Serine-Threonine Kinases - metabolism | Disease Models, Animal | eIF-2 Kinase - genetics | Unfolded Protein Response - drug effects | Endoplasmic Reticulum Stress - drug effects | Endoribonucleases - metabolism | Proteostasis - genetics | Signal Transduction | Heat-Shock Proteins - metabolism | RNA, Messenger - genetics | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Muscular Dystrophy, Duchenne - pathology | Carrier Proteins - genetics | Activating Transcription Factor 6 - metabolism | Animals | Carrier Proteins - metabolism | X-Box Binding Protein 1 - metabolism | Eukaryotic Initiation Factor-2 - genetics | Activin Receptors, Type II - genetics | Immunoglobulin Fc Fragments - pharmacology | Mice | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | X-Box Binding Protein 1 - genetics | Proteins | Oxidative stress | Exercise | RNA | Lysine | Analysis | Physiological aspects | Heat shock proteins | Muscular dystrophy | Glutathione transferase | Index Medicus | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi
Journal Article
Nature genetics, ISSN 1546-1718, 04/2014, Volume 46, Issue 5, pp. 451 - 456
Journal Article
Nature communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, pp. 11185 - 11185
Journal Article
Nature genetics, ISSN 1546-1718, 04/2014, Volume 46, Issue 5, pp. 444 - 450
Journal Article
Journal Article
Nature genetics, ISSN 1546-1718, 04/2014, Volume 46, Issue 5, pp. 457 - 461
Journal Article