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PLoS ONE, ISSN 1932-6203, 11/2009, Volume 4, Issue 11, pp. e7887 - e7887
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2007, Volume 104, Issue 38, pp. 15040 - 15044
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in... 
Molecules | Medical genetics | Disulfides | Diabetes | Type 2 diabetes mellitus | Genetic mutation | Insulin | Chromosomes | Human genetics | Type 1 diabetes mellitus | Disulfide bonds | Insulin biosynthesis | Endoplasmic reticulum stress | Unfolded protein response | KIR6.2 | B-CHAIN | MULTIDISCIPLINARY SCIENCES | MOUSE | DOMINANT | ENDOPLASMIC-RETICULUM STRESS | PROINSULIN | IDENTIFICATION | PEPTIDE | disulfide bonds | unfolded protein response | LINKAGE ANALYSIS | CHIRAL MUTAGENESIS | endoplasmic reticulum | stress insulin biosynthesis | Proinsulin - metabolism | Diabetes Mellitus - genetics | Receptors, Drug - genetics | Humans | Molecular Sequence Data | Infant | Male | Mutation, Missense | Sulfonylurea Receptors | Potassium Channels - metabolism | ATP-Binding Cassette Transporters - genetics | ATP-Binding Cassette Transporters - metabolism | Female | Insulin - genetics | Infant, Newborn | Genetic Linkage | Amino Acid Sequence | Protein Precursors - genetics | Diabetes Mellitus - metabolism | Potassium Channels, Inwardly Rectifying - genetics | Proinsulin - genetics | Protein Folding | Receptors, Drug - metabolism | Potassium Channels - genetics | Protein Precursors - metabolism | Models, Biological | Pedigree | Heterozygote | Potassium Channels, Inwardly Rectifying - metabolism | Infants (Newborn) | Evaluation | Gene mutations | Genetic aspects | Diagnosis | Health aspects | Diseases | Mutation | Genes | Endocrinology | Index Medicus | Biological Sciences | insulin biosynthesis | endoplasmic reticulum stress
Journal Article
Blood, ISSN 0006-4971, 05/2014, Volume 123, Issue 21, pp. 3247 - 3254
Journal Article
Blood, ISSN 0006-4971, 04/2018, Volume 131, Issue 16, pp. 1769 - 1771
In this issue of Blood, Takahashi et al provide evidence that cancer gene mutations in patients with chronic lymphocytic leukemia (CLL) have a prognostic role... 
HEMATOLOGY | CHRONIC LYMPHOCYTIC-LEUKEMIA | SF3B1 | Mutation | Lenalidomide | Thalidomide | Genes, Neoplasm | Humans | Leukemia, Lymphocytic, Chronic, B-Cell | Index Medicus | Abridged Index Medicus
Journal Article
British Journal of Surgery, ISSN 0007-1323, 08/2016, Volume 103, Issue 9, pp. 1189 - 1199
Journal Article
Journal Article
BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 10/2014, Volume 1841, Issue 10, pp. 1548 - 1554
Journal Article
Leukemia, ISSN 0887-6924, 2018, Volume 33, Issue 5, pp. 1219 - 1230
In the past years, the genomes of thousands of tumors have been elucidated. To date however, our knowledge on somatic gene alterations in normal cells is very... 
HETEROGENEITY | STEM-CELLS | ONCOLOGY | DNA | IMMUNOGLOBULIN | MECHANISMS | ACCUMULATION | HYPERMUTATION | HEMATOLOGY | SOMATIC MUTATIONS | GENOME | Care and treatment | Gene mutations | Somatic cells | Memory | Analysis | Genetic aspects | Research | Tetanus | B cells | Memory cells | Immunoglobulins | Alterations | Immunological memory | Statistical analysis | Germinal centers | Lymphocytes B | Lymphocytes | Genomes | Mutation | Tumors
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 07/2012, Volume 109, Issue 31, pp. E2127 - E2133
Journal Article