المؤلفون: Goodwin, Alice F, Tidyman, William E, Jheon, Andrew H, Sharir, Amnon, Zheng, Xu, Charles, Cyril, Fagin, James A, McMahon, Martin, Diekwisch, Thomas GH, Ganss, Bernhard, Rauen, Katherine A, Klein, Ophir D

المصدر: Human Molecular Genetics. 23(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Dental/Oral and Craniofacial Disease, Stem Cell Research, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, Adolescent, Adult, Ameloblasts, Animals, Case-Control Studies, Cell Polarity, Child, Child, Preschool, Cohort Studies, Costello Syndrome, Dental Enamel, Disease Models, Animal, Enzyme Inhibitors, Female, Humans, Infant, MAP Kinase Kinase Kinase 1, Male, Mice, Mice, Mutant Strains, Microscopy, Electron, Scanning, Phosphatidylinositol 3-Kinases, Phosphoinositide-3 Kinase Inhibitors, Proto-Oncogene Proteins p21(ras), Signal Transduction, Young Adult, Medical and Health Sciences, Genetics & Heredity, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/11f867hjTest

المؤلفون: Weber, F. D., Wiesinger, C., Forss-Petter, S., Regelsberger, G., Einwich, A., Weber, W. H. A., Kohler, W., Stockinger, H., Berger, J.

المصدر: Human Molecular Genetics
Human Molecular Genetics; Vol 23

مصطلحات موضوعية: Adult, Male, Fatty Acids, Gene Expression, Articles, Middle Aged, ATP Binding Cassette Transporter, Subfamily D, Lipid Metabolism, ATP Binding Cassette Transporter, Subfamily D, Member 1, Monocytes, Case-Control Studies, Peroxisomes, Humans, ATP-Binding Cassette Transporters, Lymphocytes, Adrenoleukodystrophy, Oxidation-Reduction, Cells, Cultured

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e6cd9f31f514d510b1c74f0a9ac69a6cTest
http://europepmc.org/articles/PMC3990157Test

المؤلفون: Zhaohui Gu, Lu Qi, Sai-Juan Chen, Bing-Li Liu, Chun-Ming Pan, Wei Huang, Guan-Qi Gao, Gang Chen, Guang Ning, Li-Qiong Xue, Guo-Yue Yuan, Shao-Ying Yang, Shuang-Xia Zhao, Huai-Dong Song, Wen-Hua Du, Xiao-Mei Zhang, Changgui Li, Hai-Ning Wang, Wei Liu, Qing Su, Libin Liu, Yongde Peng, Jia-Lun Chen, Jiajun Zhao, Ming Zhan, Jun Liang, Zhu Chen, Liming Liang

المصدر: Human Molecular Genetics. 22:3347-3362

مصطلحات موضوعية: Adult, Male, RNA, Untranslated, Genotype, Graves' disease, Molecular Sequence Data, Receptors, Cell Surface, Genome-wide association study, Locus (genetics), Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, ABO Blood-Group System, Receptors, G-Protein-Coupled, Exon, Signaling Lymphocytic Activation Molecule Family Member 1, Antigens, CD, Signaling Lymphocytic Activation Molecule Family, Genetics, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Gene, Genetics (clinical), Base Sequence, Case-control study, Membrane Proteins, General Medicine, Middle Aged, medicine.disease, Graves Disease, Genetic Loci, Case-Control Studies, Tumor Necrosis Factors, DNA, Intergenic, Female, Collagen, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e583ea778fd6fec25f761615423598b1Test
https://doi.org/10.1093/hmg/ddt183Test

المؤلفون: Ophir D. Klein, Cyril Charles, Katherine A. Rauen, Xu Zheng, Amnon Sharir, Andrew H. Jheon, William E. Tidyman, Thomas G.H. Diekwisch, Alice F. Goodwin, James A. Fagin, Martin McMahon, Bernhard Ganss

المصدر: Human molecular genetics, vol 23, iss 3

مصطلحات موضوعية: MAPK/ERK pathway, Male, Medical and Health Sciences, Cohort Studies, Mice, Phosphatidylinositol 3-Kinases, Anti-apoptotic Ras signalling cascade, Ameloblasts, 2.1 Biological and endogenous factors, Scanning, Aetiology, Enzyme Inhibitors, Child, Genetics (clinical), Phosphoinositide-3 Kinase Inhibitors, Pediatric, Genetics & Heredity, Microscopy, Costello Syndrome, Cell Polarity, General Medicine, Articles, Biological Sciences, Cell biology, Mutant Strains, Child, Preschool, Female, Ameloblast, Signal Transduction, Adult, Adolescent, 1.1 Normal biological development and functioning, MAP Kinase Kinase Kinase 1, Biology, Electron, Proto-Oncogene Proteins p21(ras), Young Adult, Rare Diseases, stomatognathic system, Underpinning research, Genetics, Animals, Humans, HRAS, Dental/Oral and Craniofacial Disease, Progenitor cell, Preschool, Dental Enamel, Molecular Biology, PI3K/AKT/mTOR pathway, Animal, Infant, Stem Cell Research, Mice, Mutant Strains, Disease Models, Animal, Ras Signaling Pathway, Case-Control Studies, Disease Models, Immunology, Microscopy, Electron, Scanning

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4270d19f5798493b2d515b8ec68baadTest
https://pubmed.ncbi.nlm.nih.gov/24057668Test

المؤلفون: Geurts, J.M.W., Janssen, R.G.J.H., van Greevenbroek, M.M.J., van der Kallen, C.J.H., Cantor, R.M., Bu, X., Aouizerat, B.E., Allayee, H., Lanning, C.D., Buurman, W.A., Rotter, J.L., de Bruin, T.W.A.

المساهمون: Populatie Genetica, Interne Geneeskunde, Algemene Heelkunde, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, RS: CARIM School for Cardiovascular Diseases

المصدر: Human Molecular Genetics, 9(14), 2067-2074. Oxford University Press

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Apolipoprotein B, Genetic Linkage, DNA Mutational Analysis, Population, Hyperlipidemia, Familial Combined, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Receptors, Tumor Necrosis Factor, Exon, Gene mapping, Internal medicine, Genetics, medicine, Humans, Receptors, Tumor Necrosis Factor, Type II, Allele, education, Molecular Biology, Alleles, Genetics (clinical), Apolipoproteins B, Family Health, education.field_of_study, Tumor Necrosis Factor-alpha, Haplotype, Exons, General Medicine, Middle Aged, Introns, Phenotype, Endocrinology, Haplotypes, Chromosomes, Human, Pair 1, Case-Control Studies, Linear Models, biology.protein, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b8f965f9ac4ba30b965f764b745baeTest
https://doi.org/10.1093/hmg/9.14.2067Test

المؤلفون: Estrid Høgdall, Georgia Chenevix-Trench, Malcolm C. Pike, Christopher K. Edlund, Simon A. Gayther, Daniel O. Stram, Anna Jakubowska, Usha Menon, Paul D.P. Pharoah, Roberta B. Ness, David Van Den Berg, Valerie McGuire, Alice S. Whittemore, Jonathan Beesley, Joellen M. Schildkraut, Jan Lubinski, Krzysztof Mędrek, Mary Anne Rossing, Susan J. Ramus, Anna H. Wu, Chris Hsu, Jacek Gronwald, Kara L. Cushing-Haugen, Penelope M. Webb, Weiva Sieh, Aleksandra Gentry-Maharaj, Andrew Berchuck, Claus Høgdall, David V. Conti, Edwin S. Iversen, Jennifer A. Doherty, Patricia G. Moorman, Kirsten B. Moysich, Celeste Leigh Pearce, Susanne K. Kjaer, Honglin Song

المصدر: Human molecular genetics. 20(11)

مصطلحات موضوعية: Oncology, Adult, medicine.medical_specialty, endocrine system diseases, Genotype, IGFBP3, Single-nucleotide polymorphism, Biology, Carcinoma, Ovarian Epithelial, Polymorphism, Single Nucleotide, White People, Genetic Heterogeneity, Insulin-Like Growth Factor II, Risk Factors, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neoplasms, Glandular and Epithelial, Risk factor, Insulin-Like Growth Factor I, Molecular Biology, Genetics (clinical), Aged, Ovarian Neoplasms, Genetic heterogeneity, Association Studies Articles, Case-control study, Cancer, General Medicine, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, Minor allele frequency, Insulin-Like Growth Factor Binding Protein 1, Insulin-Like Growth Factor Binding Proteins, Endocrinology, Insulin-Like Growth Factor Binding Protein 3, Case-Control Studies, Female, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80195f0854a26e8586d5c34226652988Test
https://pubmed.ncbi.nlm.nih.gov/21422097Test

المؤلفون: Faisal M. Syed, Sharon L.R. Kardia, Gerald W. Dorn, Nancy McGuire, Rohan R. Parekh, Stephen B. Liggett, Anita Gálvez, Harvey S. Hahn, Amy M. Odley, Bonnie J. Benner, Reagan Kelly, Karen L. Case, Scot J. Matkovich, Li Sparks

المصدر: Human molecular genetics. 16(22)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Transcription, Genetic, medicine.medical_treatment, Electrophoretic Mobility Shift Assay, Gene Frequency, Internal medicine, Genetics, medicine, GTP-Binding Protein alpha Subunits, Gs, Animals, Humans, Electrophoretic mobility shift assay, Promoter Regions, Genetic, Molecular Biology, Allele frequency, Gene, Transcription factor, Genetics (clinical), Aged, Early Growth Response Protein 1, Heart transplantation, Aged, 80 and over, Heart Failure, Binding Sites, Polymorphism, Genetic, biology, HEK 293 cells, General Medicine, Middle Aged, Molecular biology, GC Rich Sequence, Rats, Black or African American, Survival Rate, Endocrinology, Gq alpha subunit, Gene Expression Regulation, Case-Control Studies, biology.protein, Female, GNAQ

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1ec4800c9ed5b5847b21557ff3910dTest
https://pubmed.ncbi.nlm.nih.gov/17720980Test

المؤلفون: Rudi G. J. Westendorp, Jeanette ter Huurne, B. J. Vermeer, Wilma Bergman, Jan-Nico Bouwes Bavinck, Nelleke A. Gruis, Maarten T. Bastiaens

المصدر: Human molecular genetics. 10(16)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Skin Neoplasms, Population, Gene Dosage, Sunburn, Biology, Gene dosage, Melanosis, Risk Factors, Skin Physiological Phenomena, Genetics, medicine, Humans, education, Child, Hair Color, Molecular Biology, Lentigo, Melanoma, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, Freckle, integumentary system, Receptors, Melanocortin, Genetic Variation, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, Dermatology, Major gene, Receptors, Corticotropin, Case-Control Studies, Data Interpretation, Statistical, Sunlight, Female, Skin cancer, medicine.symptom, Melanocortin 1 receptor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963d314d58ffca2fe6719bf593accc37Test
https://pubmed.ncbi.nlm.nih.gov/11487574Test