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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
PLoS genetics, ISSN 1553-7404, 2014, Volume 10, Issue 1, pp. e1004134 - e1004134
Journal Article
Journal Article
The Journal of biological chemistry, ISSN 1083-351X, 07/2008, Volume 283, Issue 28, pp. 19192 - 19200
Journal Article
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 03/2017, Volume 152, Issue 4, pp. 880 - 894.e6
Background & Aims Hepatocellular adenomas (HCAs) are benign liver tumors that can be assigned to molecular subtypes based on inactivating mutations in... 
Gastroenterology and Hepatology | HCC | SHH | Tumor Progression | Benign | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Liver Neoplasms - classification | Hepatocyte Nuclear Factor 1-alpha - genetics | Adenoma - genetics | Cytokine Receptor gp130 - genetics | Humans | Middle Aged | Transcriptome | Hedgehog Proteins - metabolism | Male | Liver Neoplasms - chemistry | GTP-Binding Protein alpha Subunits, Gs - genetics | Young Adult | Protein-Tyrosine Kinases - genetics | Telomerase - genetics | Cell Transformation, Neoplastic - genetics | Carcinoma, Hepatocellular - genetics | Hemorrhage - etiology | Aged, 80 and over | Adult | Chromogranins - genetics | Female | Carcinoma, Hepatocellular - chemistry | Inhibin-beta Subunits - genetics | Neoplasm Proteins - genetics | Child | STAT3 Transcription Factor - genetics | Liver Neoplasms - genetics | Signal Transduction | Zinc Finger Protein GLI1 - genetics | Risk Factors | Janus Kinase 2 - genetics | Gene Fusion | Adenoma - chemistry | beta Catenin - genetics | Sequence Analysis, RNA | Adenoma - classification | Adolescent | Carcinoma, Hepatocellular - pathology | Aged | Mutation | Liver cancer | Liver | Risk factors | Adenoma | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Santé publique et épidémiologie | Hépatology and Gastroenterology | Tissues and Organs
Journal Article
The Journal of experimental medicine, ISSN 1540-9538, 06/2014, Volume 211, Issue 7, pp. 1349 - 1362
Journal Article
The Lancet (British edition), ISSN 0140-6736, 05/2019, Volume 393, Issue 10183, pp. 1831 - 1842
.... Studies in east Asia can help determine whether these associations are causal, since two common genetic variants greatly affect alcohol drinking patterns... 
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Alcohol Dehydrogenase - metabolism | Cardiovascular Diseases - etiology | Myocardial Infarction - epidemiology | Prospective Studies | Humans | Middle Aged | Far East - epidemiology | Aldehyde Dehydrogenase, Mitochondrial - metabolism | Genotype | Male | China - epidemiology | Alcohol Drinking - adverse effects | Cardiovascular Diseases - genetics | Alcohol Drinking - genetics | Incidence | Cerebral Hemorrhage - epidemiology | Alcohol Drinking - epidemiology | Cardiovascular Diseases - epidemiology | Adult | Female | Stroke - epidemiology | Aged | Blood Pressure - physiology | Genetic research | Medicine, Experimental | Blood circulation disorders | Medical research | Drinking of alcoholic beverages | Analysis | Myocardial infarction | Spirits | Cardiovascular disease | Alcohol dehydrogenase | Epidemiology | Hemorrhage | Aldehyde dehydrogenase | Risk factors | Alcohol use | Alcohols | Vascular diseases | Risk assessment | Blood pressure | Beverages | Genotypes | Predictive control | Women | Cerebral infarction | Stroke | Drinking behavior | Health risks | Drinking | Metabolism | Disease control | Morbidity | Genetic variance | Men | Alcoholic beverages | Recording | Cardiovascular diseases | Health risk assessment | Index Medicus | Abridged Index Medicus
Journal Article