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Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1255 - 1259
Journal Article
Science, ISSN 0036-8075, 2/2011, Volume 331, Issue 6018, pp. 768 - 772
Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs), a cause of severe hypertension, feature constitutive hormone production and... 
Depolarization | Hypertension | Somatic mutation | Cell growth | Hyperaldosteronism | REPORTS | Loss of heterozygosity | Adenoma | Genetic mutation | Sequencing | Tumors | REMEDIABLE ALDOSTERONISM | HUMAN BREAST | COLORECTAL CANCERS | ADRENOCORTICAL-CELLS | MULTIDISCIPLINARY SCIENCES | CONDUCTION | GLOMERULOSA CELLS | IDENTIFICATION | MOLECULAR-BASIS | SELECTIVITY | POTASSIUM CHANNEL | Adrenal Glands - pathology | Potassium - metabolism | Cell Proliferation | Humans | Hyperaldosteronism - pathology | Hyperplasia | Protein Multimerization | Zona Glomerulosa - pathology | Male | Hyperaldosteronism - metabolism | Sodium - metabolism | Aldosterone - metabolism | Adrenocortical Adenoma - genetics | G Protein-Coupled Inwardly-Rectifying Potassium Channels - metabolism | Female | Hypertension - genetics | Adrenal Cortex Neoplasms - metabolism | Cell Line | G Protein-Coupled Inwardly-Rectifying Potassium Channels - chemistry | Hyperaldosteronism - genetics | Mutant Proteins - genetics | Mutant Proteins - metabolism | Zona Glomerulosa - metabolism | Adrenal Cortex Neoplasms - pathology | G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics | Adrenocortical Adenoma - pathology | Adrenocortical Adenoma - metabolism | Hypertension - metabolism | Adrenal Cortex Neoplasms - genetics | Mutant Proteins - chemistry | Mutation | Index Medicus | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
by Verhoeven, Virginie J. M and Hysi, Pirro G and Wojciechowski, Robert and Fan, Qiao and Guggenheim, Jeremy A and Höhn, René and Macgregor, Stuart and Hewitt, Alex W and Nag, Abhishek and Cheng, Ching-Yu and Yonova-Doing, Ekaterina and Zhou, Xin and Ikram, M. Kamran and Buitendijk, Gabriëlle H. S and McMahon, George and Kemp, John P and Pourcain, Beate St and Simpson, Claire L and Mäkelä, Kari-Matti and Lehtimäki, Terho and Kähönen, Mika and Paterson, Anew D and Hosseini, S. Mohsen and Wong, Hoi Suen and Xu, Liang and Jonas, Jost B and Pärssinen, Olavi and Wedenoja, Juho and Yip, Shea Ping and Ho, Daniel W. H and Pang, Chi Pui and Chen, Li Jia and Burdon, Kathryn P and Craig, Jamie E and Klein, Barbara E. K and Klein, Ronald and Haller, Toomas and Metspalu, Anes and Khor, Chiea-Chuen and Tai, E.-Shyong and Aung, Tin and Vithana, Eranga and Tay, Wan-Ting and Barathi, Veluchamy A and Chen, Peng and Li, Ruoying and Liao, Jiemin and Zheng, Yingfeng and Ong, Rick T and Döring, Angela and Evans, David M and Timpson, Nicholas J and Verkerk, Annemieke J. M. H and Meitinger, Thomas and Raitakari, Olli and Hawthorne, Felicia and Spector, Tim D and Karssen, Lennart C and Pirastu, Mario and Murgia, Federico and Ang, Wei and Mishra, Aniket and Montgomery, Grant W and Pennell, Craig E and Cumberland, Phillippa M and Cotlarciuc, Ioana and Mitchell, Paul and Wang, Jie Jin and Schache, Maria and Janmahasathian, Sarayut and Igo, Robert P and Lass, Jonathan H and Chew, Emily and Iyengar, Sudha K and Gorgels, Theo G. M. F and Rudan, Igor and Hayward, Caroline and Wright, Alan F and Polasek, Ozren and Vatavuk, Zoran and Wilson, James F and Fleck, Brian and Zeller, Tanja and Mirshahi, Alireza and Müller, Christian and Uitterlinden, Ané G and Rivadeneira, Fernando and Vingerling, Johannes R and Hofman, Albert and Oostra, Ben A and Amin, Najaf and Bergen, Arthur A. B and teo, Yik-Ying and Rahi, Jugnoo S and Vitart, Veronique and Williams, Cathy and Baird, Paul N and Wong, Tien-Yin and Oexle, Konrad and Pfeiffer, Norbert and ... and Fuchs' Genetics Multi-Ctr Study Gr and Diabet Control Complications Trial and WTCCC2 and CREAM and Consortium for Refractive Error and Myopia (CREAM) and Fuchs' Genetics Multi-Center Study Group and Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group and Wellcome Trust Case Control Consortium 2 (WTCCC2) and The Fuchs' Genetics Multi-Center Study Group and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 3, pp. 314 - 318
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 52, pp. 18607 - 18612
Journal Article
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 1055 - 1060
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
Heart Rhythm, ISSN 1547-5271, 2011, Volume 8, Issue 7, pp. 1024 - 1032
Journal Article
Journal Article