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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
..., or erythropoietin-hypersensitive erythropoiesis, in patients with congenital erythrocytosis related to an erythropoietin-receptor mutation... 
MEDICINE, GENERAL & INTERNAL | PREVALENCE | Polycythemia - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Humans | Janus Kinase 2 - genetics | Codon, Nonsense | Mutation, Missense | Bone marrow | Mutation | Lymphocytes | Pathogenesis
Journal Article
Cell death and differentiation, ISSN 1476-5403, 2017, Volume 25, Issue 1, pp. 161 - 168
Mutant p53 proteins impart changes in cellular behavior and function through interactions with proteins that alter gene expression... 
WILD-TYPE P53 | COMPLEX | LI-FRAUMENI-SYNDROME | DRIVE CANCER | METASTASIS | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | P63 | BINDING | MOUSE MODELS | GAIN | CELL BIOLOGY | Proteins | Therapy | Missense mutation | Mathematical analysis | p53 Protein | Transcription activation | Crime | Mutation | Gene expression | Protein interaction | Environmental conditions | Review
Journal Article
Cancer cell, ISSN 1535-6108, 2012, Volume 21, Issue 5, pp. 614 - 625
Rescuing the function of mutant p53 protein is an attractive cancer therapeutic strategy... 
WILD-TYPE CONFORMATION | DNA-BINDING DOMAIN | RESCUE | ONCOLOGY | IRON CHELATORS | MUTATION | REDOX ACTIVITY | TUMOR-SUPPRESSOR | CANCER MUTANTS | RESTORATION | ANTITUMOR-ACTIVITY | CELL BIOLOGY | Neoplasms - metabolism | Reactive Oxygen Species - metabolism | Apoptosis - drug effects | Zinc - metabolism | Humans | Transcriptional Activation - drug effects | Structure-Activity Relationship | Mutation, Missense | Tumor Suppressor Protein p53 - genetics | Dose-Response Relationship, Drug | Transfection | Neoplasms - genetics | RNA Interference | Time Factors | Antineoplastic Agents - pharmacology | Thiosemicarbazones - pharmacology | Gene Expression Regulation, Neoplastic - drug effects | Binding Sites | Cell Line | Cell Survival - drug effects | Oxidation-Reduction | Mice, Inbred C57BL | Tumor Suppressor Protein p53 - metabolism | Mice, Transgenic | Chelating Agents - pharmacology | DNA - metabolism | Tumor Suppressor Protein p53 - drug effects | Gene Knock-In Techniques | Neoplasms - drug therapy | Xenograft Model Antitumor Assays | Animals | Tumor Burden - drug effects | Mice, Nude | Alleles | Protein Conformation | Mice | Mice, Inbred BALB C | Tumor Suppressor Protein p53 - chemistry | Oxidative Stress - drug effects | Neoplasms - pathology | Care and treatment | Nuclear radiation | Oncology, Experimental | Research | Tumor proteins | Health aspects | Cancer | Antitumor agents | Lymphocytes B | Xenografts | Data processing | Drug development | Zinc | p53 protein | Apoptosis | Structure-function relationships | Tumors
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 05/2010, Volume 285, Issue 21, pp. 15866 - 15873
Journal Article
Journal Article
Journal Article
Journal Article
Lung cancer (Amsterdam, Netherlands), ISSN 0169-5002, 2014, Volume 85, Issue 1, pp. 19 - 24
Journal Article
Neurology, ISSN 0028-3878, 03/2013, Volume 80, Issue 11, pp. 1062 - 1064
Journal Article
Diabetic medicine, ISSN 0742-3071, 2016, Volume 33, Issue 10, pp. 1445 - 1450
Aims To describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects... 
GAMMA | DOMINANT-NEGATIVE MUTATIONS | HYPERTENSION | ENDOCRINOLOGY & METABOLISM | Humans | Middle Aged | Histidine - genetics | Male | Lipodystrophy, Familial Partial - genetics | Mutation, Missense | Phenotype | Codon | Turkey | Pedigree | Lamin Type A - genetics | Adult | Family | Female | Leucine - genetics | Amino Acid Substitution | PPAR gamma - genetics
Journal Article