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1. Full Text Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAFV599Ins)
by Carta, Claudio and Moretti, Sonia and Passeri, Lucia and Barbi, Flavia and Avenia, Nicola and Cavaliere, Antonio and Monacelli, Massimo and Macchiarulo, Antonio and Santeusanio, Fausto and Tartaglia, Marco and Puxeddu, Efisio
Clinical Endocrinology, ISSN 0300-0664, 01/2006, Volume 64, Issue 1, pp. 105 - 109
Summary Objectives  The genes RET and RAS, and more recently BRAF, have been shown to be frequently mutated in human papillary thyroid carcinomas (PTC). The... 
ONCOGENES | RET | ACTIVATION | PATHWAY | FREQUENCY | ENDOCRINOLOGY & METABOLISM | CANCER | TUMORIGENESIS | TUMORS | EVENT | ras Proteins - genetics | Carcinoma, Papillary - genetics | Gene Frequency | Humans | Middle Aged | Genotype | Genetic Markers | Thyroid Neoplasms - genetics | DNA Mutational Analysis | Proto-Oncogene Proteins B-raf - genetics | Gene Rearrangement | Adult | Aged | Mutation | Cohort Studies | Proto-Oncogene Proteins c-ret - genetics | Genetic aspects | Thyroid diseases | Index Medicus
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2. Full Text Allele Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2)
by Bongianino, Rossana and Denegri, Marco and Mazzanti, Andrea and Lodola, Francesco and Vollero, Alessandra and Boncompagni, Simona and Fasciano, Silvia and Rizzo, Giulia and Mangione, Damiano and Barbaro, Serena and Di Fonso, Alessia and Napolitano, Carlo and Auricchio, Alberto and Protasi, Feliciano and Priori, Silvia G
Circulation Research, ISSN 0009-7330, 06/2017, Volume 121, Issue 5, pp. 525 - 536
RATIONALE:Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a leading cause... 
Cardiac arrhythmia | Ryanodine receptor calcium channel | Cardiac sudden death | Cathecholaminergic polymorphic ventricular tachycardia | Transgenic mice | Genetics | Gene therapy | POLYMORPHIC VENTRICULAR-TACHYCARDIA | CARDIAC & CARDIOVASCULAR SYSTEMS | cardiac arrhythmia | cardiac sudden death | gene therapy | IN MOUSE MODEL | RELEASE | cathecholaminergic polymorphic ventricular tachycardia | KNOCK | genetics | transgenic mice | CARDIAC CALSEQUESTRIN | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | Animals, Newborn | Arrhythmias, Cardiac - prevention & control | Humans | Mice, Inbred C57BL | RNA, Messenger - genetics | Cells, Cultured | Male | Mice, Transgenic | Ryanodine Receptor Calcium Release Channel - ultrastructure | Mutation - genetics | RNA, Messenger - ultrastructure | Arrhythmias, Cardiac - pathology | Phenotype | Animals | Ryanodine Receptor Calcium Release Channel - deficiency | Ryanodine Receptor Calcium Release Channel - genetics | Alleles | HEK293 Cells | Heterozygote | Mice | Gene Silencing - physiology | Arrhythmias, Cardiac - genetics | Neonates | Phenotypes | Transcription | Cardiac muscle | RNA-mediated interference | Ryanodine receptors | Tubules | Isoproterenol | Proteins | Gene silencing | Mitochondria | Tachycardia | Sarcoplasmic reticulum | Rodents | Mutation | Ventricle | Heart diseases | Index Medicus
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3. Full Text Mutation-specific phenotypes in hiPSC-derived cardiomyocytes carrying either myosin-binding protein C or α -tropomyosin mutation for hypertrophic cardiomyopathy
by Ojala, Marisa and Prajapati, Chandra and Pölönen, Risto-Pekka and Rajala, Kristiina and Pekkanen-Mattila, Mari and Rasku, Jyrki and Larsson, Kim and Aalto-Setälä, Katriina
Stem Cells International, ISSN 1687-966X, 2016, Volume 2016, pp. 1684792 - 16
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease, which affects the structure of heart muscle tissue. The clinical symptoms include arrhythmias,... 
PLURIPOTENT STEM-CELLS | EXPRESSION PATTERNS | SARCOMERIC CARDIOMYOPATHIES | GENE | LONG-QT SYNDROME | DYSFUNCTION | FOUNDER MUTATIONS | EASTERN FINLAND | CULTURE | HAPLOINSUFFICIENCY | CELL & TISSUE ENGINEERING
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4. Nonsense mutation correction in human diseases
: an approach for targeted medicine
by Benhabiles, Hana, author and Jia, Jieshuang, author and Lejeune, Fabrice, author
2016, ISBN 0128044691, ix, 180 pages
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of... 
Genetic Diseases, Inborn | Mutation (Biology) | Genetic disorders | Nonsense mutation | Biology, life sciences
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5. Full Text Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations
by Oishi, Kimihiko and Hofmann, Susanna and Diaz, George A and Brown, Tartania and Manwani, Deepa and Ng, Lily and Young, Randy and Vlassara, Helen and Ioannou, Yiannis A and Forrest, Douglas and Gelb, Bruce D
Human Molecular Genetics, ISSN 0964-6906, 11/2002, Volume 11, Issue 23, pp. 2961 - 2967
We have recently demonstrated that inherited defects of the base excision repair gene MYH predispose to multiple colorectal adenomas and carcinoma. Three... 
MUTY GENE | REPAIR | CLONING | BIOCHEMISTRY & MOLECULAR BIOLOGY | ESCHERICHIA-COLI | GENETICS & HEREDITY | TRANSVERSIONS | DNA-SYNTHESIS | EXPRESSION | CANCER | HUMAN HOMOLOG | DAMAGE | Genetic Predisposition to Disease - genetics | Neoplasms, Multiple Primary - genetics | Adenoma - genetics | Colorectal Neoplasms - genetics | Humans | Exons - genetics | Chromatography, High Pressure Liquid | N-Glycosyl Hydrolases - genetics | DNA Glycosylases | Phenotype | Codon | DNA, Neoplasm - blood | Alleles | Polymerase Chain Reaction | Germ-Line Mutation | DNA, Neoplasm - genetics | Index Medicus
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6. Full Text The impact of smoking and tp53 mutations in lung adenocarcinoma patients with targetable mutations—the lung cancer mutation consortium (LCMC2)
by Aisner, Dara L and Sholl, Lynette M and Berry, Lynne D and Rossi, Michael R and Chen, Heidi and Fujimoto, Junya and Moreira, Andre L and Ramalingam, Suresh S and Villaruz, Liza C and Otterson, Gregory A and Haura, Eric and Politi, Katerina and Glisson, Bonnie and Cetnar, Jeremy and Garon, Edward B and Schiller, Joan and Waqar, Saiama N and Sequist, Lecia V and Brahmer, Julie and Shyr, Yu and Kugler, Kelly and Wistuba, Ignacio I and Johnson, Bruce E and Minna, John D and Kris, Mark G and Bunn, Paul A and Kwiatkowski, David J and LCMC2 Investigators and LCMC2 investigators
Clinical Cancer Research, ISSN 1078-0432, 03/2018, Volume 24, Issue 5, pp. 1038 - 1047
Purpose: Multiplex genomic profiling is standard of care for patients with advanced lung adenocarcinomas. The Lung Cancer Mutation Consortium (LCMC) is a... 
TYROSINE KINASE INHIBITORS | P53 MUTATIONS | GEFITINIB | MULTICENTER | MET INHIBITORS | ONCOLOGY | EGFR MUTATIONS | OPEN-LABEL | GENE COPY NUMBER | SHORTER SURVIVAL | PHASE-2 TRIAL | Adenocarcinoma | Therapy | Epidermal growth factor receptors | p53 Protein | Lung cancer | Lung | Patients | Survival | ErbB-2 protein | Gene sequencing | Consortia | Alterations | Genotyping | Experimental design | Tumor suppressor genes | Mutation | Smoking | Cancer
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7. Full Text Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status for the Administration of EGFR-TKIs in Non-Small Cell Lung Carcinoma [ERMETIC] Project—Part 1)
by Beau-Faller, Michèle and Degeorges, Armelle and Rolland, Estelle and Mounawar, Mounia and Antoine, Martine and Poulot, Virginie and Mauguen, Audrey and Barbu, Véronique and Coulet, Florence and Prétet, Jean-Luc and Bièche, Ivan and Blons, Hélène and Boyer, Jean-Christophe and Buisine, Marie-Pierre and de Fraipont, Florence and Lizard, Sarab and Olschwang, Sylviane and Saulnier, Patrick and Prunier-Mirebeau, Delphine and Richard, Nicolas and Danel, Claire and Brambilla, Elisabeth and Chouaid, Christos and Zalcman, Gérard and Hainaut, Pierre and Michiels, Stefan and Cadranel, Jacques
Journal of Thoracic Oncology, ISSN 1556-0864, 06/2011, Volume 6, Issue 6, pp. 1006 - 1015
The Evaluation of the epidermal growth factor receptor (EGFR) Mutation status for the administration of EGFR-Tyrosine Kinase Inhibitors in non-small cell lung... 
KRAS mutations | EGFR mutations | Non-small cell lung cancer | MORTALITY | GEFITINIB | STANDARDIZATION | ADENOCARCINOMA | CANCER INCIDENCE | SMOKING | FRANCE | GENE | ONCOLOGY | RESPIRATORY SYSTEM | INHIBITORS | Single-Blind Method | Lung Neoplasms - drug therapy | Receptor, Epidermal Growth Factor - genetics | ras Proteins - genetics | Proto-Oncogene Proteins p21(ras) | DNA Mutational Analysis - standards | Laboratories | Humans | Middle Aged | Male | Antineoplastic Agents - therapeutic use | DNA Mutational Analysis - methods | Paraffin Embedding | Aged, 80 and over | Adult | Female | France | Lung Neoplasms - genetics | Reproducibility of Results | Carcinoma, Non-Small-Cell Lung - genetics | Exons - genetics | Proto-Oncogene Proteins - genetics | Mutation - genetics | Protein Kinase Inhibitors - therapeutic use | Receptor, Epidermal Growth Factor - antagonists & inhibitors | Aged | Carcinoma, Non-Small-Cell Lung - drug therapy | Index Medicus | Life Sciences | Cancer
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8. Full Text Mutation
2015, Volume 7, 4
Mutagens | DNA | Mutation | Hormones | Nucleotides | Gene mutation
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9. Full Text Novel D761Y and Common Secondary T790M Mutations in Epidermal Growth Factor Receptor–Mutant Lung Adenocarcinomas with Acquired Resistance to Kinase Inhibitors
by Marissa N. Balak and Yixuan Gong and Gregory J. Riely and Romel Somwar and Allan R. Li and Maureen F. Zakowski and Anne Chiang and Guangli Yang and Ouathek Ouerfelli and Mark G. Kris and Marc Ladanyi and Vincent A. Miller and William Pao
Clinical Cancer Research, ISSN 1078-0432, 11/2006, Volume 12, Issue 21, pp. 6494 - 6501
Purpose: In patients whose lung adenocarcinomas harbor epidermal growth factor receptor (EGFR) tyrosine kinase domain mutations, acquired resistance to the... 
tyrosine kinase inhibitor | epidermal growth factor receptor | acquired resistance | lung adenocarcinoma | GENE-MUTATIONS | BREAST-CARCINOMA | GEFITINIB | ONCOLOGY | TYROSINE KINASE | IN-SITU HYBRIDIZATION | CANCER | IMATINIB MESYLATE | EGF RECEPTOR | CHRONIC MYELOID-LEUKEMIA | MOLECULAR-MECHANISMS | Erlotinib Hydrochloride | Lung Neoplasms - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Lung Neoplasms - drug therapy | Receptor, Epidermal Growth Factor - genetics | Humans | Molecular Sequence Data | Receptor, Epidermal Growth Factor - drug effects | Antineoplastic Agents - therapeutic use | Gene Dosage | Reverse Transcriptase Polymerase Chain Reaction | Adenocarcinoma - drug therapy | Receptor, Epidermal Growth Factor - chemistry | Neoplasm Metastasis - genetics | Drug Resistance, Neoplasm - genetics | In Situ Hybridization | DNA Mutational Analysis | Protein Kinase Inhibitors - therapeutic use | Quinazolines - therapeutic use | Adenocarcinoma - genetics | Mutation | Index Medicus
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10. Full Text Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events Implications for Mutation-Specific Response to beta-Blocker Therapy in Type 1 Long-QT Syndrome
by Barsheshet, Alon and Goldenberg, Ilan and O-Uchi, Jin and Moss, Arthur J and Jons, Christian and Shimizu, Wataru and Wilde, Arthur A and McNitt, Scott and Peterson, Derick R and Zareba, Wojciech and Robinson, Jennifer L and Ackerman, Michael J and Cypress, Michael and Gray, Daniel A and Hofman, Nynke and Kanters, Jorgen K and Kaufman, Elizabeth S and Platonov, Pyotr G and Qi, Ming and Towbin, Jeffrey A and Vincent, G. Michael and Lopes, Coeli M and Kardiologi and Cardiology and Lund University and Lunds universitet
Circulation, ISSN 0009-7322, 2012, Volume 125, Issue 16, pp. 1988 - +
Background-beta-Adrenergic stimulation is the main trigger for cardiac events in type 1 long-QT syndrome (LQT1). We evaluated a possible association between... 
adrenergic beta-antagonists | mutation | long QT syndrome | ion channels | CARDIAC & CARDIOVASCULAR SYSTEMS | PROTEIN-KINASE | ROMANO-WARD | GENE | KVLQT1 | ABORTED CARDIAC-ARREST | PERIPHERAL VASCULAR DISEASE | S4-S5 LINKER | K+ CHANNEL | SYMPATHETIC-STIMULATION | POTASSIUM CHANNEL | LQT1 FORM | Genetic Predisposition to Disease | KCNQ1 Potassium Channel - genetics | Humans | Heart Arrest - genetics | Male | Risk | Treatment Outcome | Romano-Ward Syndrome - drug therapy | Young Adult | Heart Arrest - drug therapy | Adolescent | Adult | Female | Mutation | Child | Romano-Ward Syndrome - genetics | Adrenergic beta-Antagonists - therapeutic use | Index Medicus | Abridged Index Medicus | beta-blockers | Kardiologi | Clinical Medicine | Cardiac and Cardiovascular Systems | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin
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11. Mutant oncogenes
: targets for therapy
by Epenetos, A. A and Lemoine, Nicholas R
1993, 1st ed., ISBN 0412481103, x, 209
genetics | congresses | Immunotherapy | therapy | Oncogene Products | Genes, Suppressor, Tumor | Gene therapy | Molecular aspects | therapeutic use | Neoplasms | Oncogenes | Cancer
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12. Full Text First 2 cases with thiamine‐responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene—intron 1 mutation c.204+2T>G
by Pomahačová, Renata and Zamboryová, Jana and Sýkora, Josef and Paterová, Petra and Fiklík, Karel and Votava, Tomáš and Černá, Zdeňka and Jehlička, Petr and Lád, Václav and Šubrt, Ivan and Dort, Jiří and Dortová, Eva
Pediatric Diabetes, ISSN 1399-543X, 12/2017, Volume 18, Issue 8, pp. 844 - 847
Thiamine‐responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations... 
diabetic ketoacidosis | gene | thiamine‐responsive megaloblastic anemia | diabetes mellitus | thiamine transporter | sensorineural deafness | SLC19A2 | thiamine-responsive megaloblastic anemia | SLC19A2 gene | ENDOCRINOLOGY & METABOLISM | SIBLINGS | TERM-FOLLOW-UP | PEDIATRICS | DEAFNESS | Thiamine Deficiency - congenital | Anemia, Megaloblastic - genetics | Czech Republic | Diabetes Mellitus - genetics | Membrane Transport Proteins - genetics | Humans | Child, Preschool | Thiamine Deficiency - genetics | Female | Infant | Hearing Loss, Sensorineural - genetics | Mutation | Deafness | Diabetics | Pyrimidines | Anemia | Genes | Eye diseases | Genetic aspects | Diabetes | Thiamine transporter | Diabetes mellitus | Heterozygotes | Hearing impairment | Hereditary diseases | Membrane proteins | Hearing loss | Hearing | Vitamin B | Ketoacidosis | Dystrophy | Supplementation | Protein transport | Thiamine
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13. Full Text Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
by Beutler, Ernest and Felitti, Vincent J and Koziol, James A and Ho, Ngoc J and Gelbart, Terri
The Lancet, ISSN 0140-6736, 01/2002, Volume 359, Issue 9302, pp. 211 - 218
There has been much interest in screening populations for disease-associated mutations. A favoured candidate has been the gene, mutations of which are the most... 
ALLELE | POPULATION | MEDICINE, GENERAL & INTERNAL | COST | DISEASE | HEMOCHROMATOSIS GENE | HOMOZYGOTES | H63D | United States | Humans | Hemochromatosis - blood | Genotype | Male | Collagen - blood | Transferrin - analysis | Homozygote | Ferritins - blood | Adult | Female | Heterozygote | Hemochromatosis - diagnosis | Mutation | Hemochromatosis - genetics | Disease | Genes | Cardiac arrhythmia | Signs and symptoms | Liver | Diabetes mellitus | Disorders | Heterozygotes | Data processing | Iron | Erectile dysfunction | Pigmentation | Homozygotes | Hepatitis | Screening | Aging | Population | HFE protein | Skin | Collagen (type IV) | Diabetes | Age | Age composition | Genotypes | Index Medicus | Abridged Index Medicus
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14. Full Text Familial intracranial arachnoid cysts with a missense mutation (c.2576C > T) in RERE: A case report
by Wang, Yubo and Cui, Jiayue and Qin, Xiaowei and Hong, Xinyu
Medicine, ISSN 0025-7974, 12/2018, Volume 97, Issue 50, pp. e13665 - e13665
Rationale: Arachnoid cysts are relatively common intracranial space-occupying lesions; nevertheless, familial intracranial arachnoid cysts are extremely rare,... 
mutation | PACHYGYRIA | MEDICINE, GENERAL & INTERNAL | arginine-Glutamic acid dipeptide repeats gene | familial arachnoid cyst | MENTAL-RETARDATION | gene | Arachnoid Cysts - surgery | Carrier Proteins - genetics | Peritoneovenous Shunt - methods | Humans | Magnetic Resonance Imaging - methods | Female | Treatment Outcome | Arachnoid Cysts - diagnostic imaging | Child | Mutation, Missense - genetics | Arachnoid Cysts - genetics | Usage | Gene mutations | Magnetic resonance imaging | Genetic aspects | Arachnoid cysts | Diagnosis | Research | Nucleotide sequencing | DNA sequencing | Index Medicus | Abridged Index Medicus
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15. Full Text Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience
by Sholl, Lynette M and Aisner, Dara L and Varella-Garcia, Marileila and Berry, Lynne D and Dias-Santagata, Dora and Wistuba, Ignacio I and Chen, Heidi and Fujimoto, Junya and Kugler, Kelly and Frankl