المؤلفون: Yee, Sook Wah, Stecula, Adrian, Chien, Huan-Chieh, Zou, Ling, Feofanova, Elena V, van Borselen, Marjolein, Cheung, Kit Wun Kathy, Yousri, Noha A, Suhre, Karsten, Kinchen, Jason M, Boerwinkle, Eric, Irannejad, Roshanak, Yu, Bing, Giacomini, Kathleen M

المصدر: PLoS genetics. 15(9)

مصطلحات موضوعية: Animals, Humans, Steroids, Androsterone, Organic Cation Transport Proteins, Symporters, Phylogeny, Biological Transport, Polymorphism, Single Nucleotide, Models, Molecular, Genome-Wide Association Study, Metabolomics, HEK293 Cells, Polymorphism, Single Nucleotide, Models, Molecular, Genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2383h9q2Test

المؤلفون: Yamazaki, Daisuke, Funato, Yosuke, Miura, Jiro, Sato, Sunao, Toyosawa, Satoru, Furutani, Kazuharu, Kurachi, Yoshihisa, Omori, Yoshihiro, Furukawa, Takahisa, Tsuda, Tetsuya, Kuwabata, Susumu, Mizukami, Shin, Kikuchi, Kazuya, Miki, Hiroaki

المصدر: PLoS genetics. 9(12)

مصطلحات موضوعية: Epithelium, Animals, Mice, Knockout, Humans, Mice, Amelogenesis Imperfecta, Retinitis Pigmentosa, Hypertrichosis, Disease Models, Animal, Magnesium, Cation Transport Proteins, Biological Transport, Mutation, Missense, Leber Congenital Amaurosis, Disease Models, Animal, Knockout, Mutation, Missense, Genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1h1887cnTest

المؤلفون: Qiao, Huanyu, Chen, Jefferson K, Reynolds, April, Höög, Christer, Paddy, Michael, Hunter, Neil

المصدر: PLoS genetics. 8(6)

مصطلحات موضوعية: Spermatocytes, Chromosomes, Centromere, Synaptonemal Complex, Animals, Mice, Inbred C57BL, Mice, Endodeoxyribonucleases, Cation Transport Proteins, Nuclear Proteins, Chromosome Pairing, Meiosis, Male, Homologous Recombination, DNA-Binding Proteins, Inbred C57BL, Genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7jt3n3qgTest

المؤلفون: Fan, Qiao, Barathi, Veluchamy, Cheng, Ching-Yu, Zhou, Xin, Meguro, Akira, Nakata, Isao, Khor, Chiea-Chuen, Goh, Liang-Kee, Li, Yi-Ju, Lim, Wane, Ho, Candice, Hawthorne, Felicia, Zheng, Yingfeng, Chua, Daniel, Inoko, Hidetoshi, Yamashiro, Kenji, Ohno-Matsui, Kyoko, Matsuo, Keitaro, Matsuda, Fumihiko, Vithana, Eranga, Mizuki, Nobuhisa, Beuerman, Roger, Tai, E-Shyong, Yoshimura, Nagahisa, Aung, Tin, Young, Terri, Wong, Tien-Yin, Teo, Yik-Ying, Saw, Seang-Mei, Seielstad, Mark

المصدر: PLoS Genetics. 8(6)

مصطلحات موضوعية: Adult, Animals, Carrier Proteins, Cation Transport Proteins, Child, China, Chromosomes, Human, Pair 1, Disease Models, Animal, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lysophospholipase, Male, Mice, Middle Aged, Myopia, Nuclear Proteins, Polymorphism, Single Nucleotide, RNA-Binding Proteins, Retina, Retinal Pigment Epithelium, Sclera, Zinc Transporter 8

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4gn6x10xTest
https://escholarship.org/content/qt4gn6x10x/qt4gn6x10x.pdfTest

المؤلفون: Jonathan M. Chernus, Stephanie L. Sherman, Terry J. Hassold, Zhen Zeng, Eleanor Feingold, Emily G. Allen, Eva R. Hoffman

المصدر: PLoS Genetics, Vol 15, Iss 12, p e1008414 (2019)
Chernus, J M, Allen, E G, Zeng, Z, Hoffman, E R, Hassold, T J, Feingold, E & Sherman, S L 2019, ' A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21 ', PLOS Genetics, vol. 15, no. 12, e1008414 . https://doi.org/10.1371/journal.pgen.1008414Test
PLoS Genetics

مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, Cancer Research, Candidate gene, Genome-wide association study, QH426-470, Biochemistry, Chromosomal Disorders, 0302 clinical medicine, Nondisjunction, Genetic, Animal Cells, Medicine and Health Sciences, Aurora Kinase C, Cell Cycle and Cell Division, Homologous Recombination, Child, Cation Transport Proteins, Genetics (clinical), Genetics, 0303 health sciences, Chromosome Biology, Genomics, Nucleic acids, Meiosis, Nondisjunction, Cell Processes, OVA, Female, Cellular Types, Candidate Gene Analysis, Research Article, Chromosome Structure and Function, DNA recombination, Mothers, Biology, Chromosomes, 03 medical and health sciences, Genome-Wide Association Studies, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Clinical Genetics, Meiosis II, Biology and Life Sciences, Computational Biology, Human Genetics, Cell Biology, DNA, Genome Analysis, medicine.disease, United States, Germ Cells, Genetic Loci, Oocytes, Down Syndrome, Chromosome 21, Trisomy, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36b96c1bfbee7fd22305092b1bfbe2eTest
https://doaj.org/article/c6fd4ca6314a4ddf9dcb0c4719fecc46Test

المؤلفون: Roshanak Irannejad, Kit Wun Kathy Cheung, Bing Yu, Karsten Suhre, Adrian Stecula, Huan-Chieh Chien, Noha A. Yousri, Marjolein van Borselen, Ling Zou, Jason M. Kinchen, Elena V. Feofanova, Eric Boerwinkle, Sook Wah Yee, Kathleen M. Giacomini

المساهمون: Evans, William E

المصدر: PLoS Genetics, Vol 15, Iss 9, p e1008208 (2019)
PLoS genetics, vol 15, iss 9
PLoS Genetics

مصطلحات موضوعية: Models, Molecular, Cancer Research, Androsterone glucuronide, medicine.medical_treatment, Cell Membranes, Genome-wide association study, QH426-470, Cardiovascular, Physical Chemistry, Biochemistry, Transcriptome, 0302 clinical medicine, Drug Metabolism, Models, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Phylogeny, Etiocholanolone glucuronide, 0303 health sciences, Symporters, Organic Compounds, Sulfates, Genomics, Single Nucleotide, 3. Good health, Chemistry, 030220 oncology & carcinogenesis, Physical Sciences, Steroids, Anatomy, Cellular Structures and Organelles, Biotechnology, Research Article, Anions, Organic Cation Transport Proteins, 1.1 Normal biological development and functioning, Biology, Androsterone, Polymorphism, Single Nucleotide, Steroid, 03 medical and health sciences, Metabolomics, Underpinning research, Genome-Wide Association Studies, medicine, Genetics, Animals, Humans, Pharmacokinetics, Polymorphism, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Ions, Pharmacology, Human Genome, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Computational Biology, Membrane Proteins, Molecular, Kidneys, Human Genetics, Transporter, Biological Transport, Renal System, Cell Biology, Genome Analysis, Solute carrier family, Steroid hormone, Good Health and Well Being, Metabolism, HEK293 Cells, Salts, Generic health relevance, 030217 neurology & neurosurgery, Hormone, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5bc861e8148c5b1ee4e5b6abeb757c2Test
https://doaj.org/article/5623312d5ce545b0ae5d208f5ebfc7e6Test

المؤلفون: Trachsel, Emilie, Redder, Peter, Linder, Patrick, Armitano, Joshua

المصدر: PLoS Genetics
PLoS Genetics, Vol 15, Iss 8, p e1008336 (2019)
PLOS Genetics, Vol. 15, No 8 (2019) P. e1008336

مصطلحات موضوعية: Staphylococcus aureus, Physiology, Staphylococcus, Magnesium Chloride, QH426-470, Pathology and Laboratory Medicine, Microbiology, Biochemistry, Regulon, Chlorides, Nucleic Acids, Medicine and Health Sciences, Genetics, Homeostasis, Point Mutation, Magnesium, Ribozymes, Uracils, Microbial Pathogens, Cation Transport Proteins, ddc:616, Nucleobases, Bacteria, Nucleotides, Organisms, Chemical Compounds, Biology and Life Sciences, Proteins, Bacterial Pathogens, Enzymes, Chemistry, Medical Microbiology, Riboswitches, Gain of Function Mutation, Physical Sciences, Mutation, Enzymology, RNA, Pathogens, Physiological Processes, Research Article, Chemical Elements

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db55ad8685a25710fb0ea42a71e27acfTest
http://europepmc.org/articles/PMC6711546Test

المؤلفون: Andergassen, Daniel, Muckenhuber, Markus, Bammer, Philipp C., Kulinski, Tomasz M., Theussl, Hans-Christian, Shimizu, Takahiko, Penninger, Josef M., Pauler, Florian M., Hudson, Quanah J.

المصدر: PLoS Genetics
PLoS Genetics, Vol 16, Iss 10, p e1009151 (2020)
PLoS Genetics, Vol 15, Iss 7, p e1008268 (2019)

مصطلحات موضوعية: Male, Embryology, Cancer Research, Organic Cation Transport Proteins, Gene Expression, QH426-470, Biochemistry, Receptor, IGF Type 2, Histones, Genomic Imprinting, Mice, Genetics, Animals, Clinical genetics, Gene Silencing, Non-coding RNA, Promoter Regions, Genetic, Molecular Biology, Genetic Interference, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Sequence Deletion, Medicine and health sciences, Biology and life sciences, Chromosome Biology, Phosphoric Diester Hydrolases, Endoderm, Correction, Organic Cation Transporter 2, Cell Biology, Chromatin, Nucleic acids, Enhancer Elements, Genetic, Disorders of imprinting, Genetic Loci, Long non-coding RNAs, RNA, Epigenetics, Female, RNA, Long Noncoding, Prader-Willi syndrome, Research Article, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b17084d427e439623dcec0c6bc6b1cTest
https://doi.org/10.1371/journal.pgen.1009151Test

المؤلفون: Kyle Fluegge, Harriet Mayanja-Kizza, Moses Joloba, Noemi B. Hall, Scott M. Williams, Eddie M. Wampande, Giorgio Sirugo, Michael L. McHenry, Robert P. Igo, Jacquelaine Bartlett, Catherine M. Stein, Penelope Benchek, Sarah A. Tishkoff, W. Henry Boom, Christian Wejse, Sebastien Gagneux

المصدر: PLoS Genetics, Vol 16, Iss 4, p e1008728 (2020)
McHenry, M L, Bartlett, J, Igo, R P, Wampande, E M, Benchek, P, Mayanja-Kizza, H, Fluegge, K, Hall, N B, Gagneux, S, Tishkoff, S A, Wejse, C, Sirugo, G, Boom, W H, Joloba, M, Williams, S M & Stein, C M 2020, ' Interaction between host genes and Mycobacterium tuberculosis lineage can affect tuberculosis severity : Evidence for coevolution? ', PLOS Genetics, vol. 16, no. 4, e1008728 . https://doi.org/10.1371/journal.pgen.1008728Test
PLoS Genetics

مصطلحات موضوعية: Male, Bacterial Diseases, RNA viruses, Cancer Research, Heredity, Pathogenesis, Disease, QH426-470, Pathology and Laboratory Medicine, Biological Coevolution, 0302 clinical medicine, Immunodeficiency Viruses, Genotype, Medicine and Health Sciences, Cation Transport Proteins, Genetics (clinical), SLC11A1, Genetics, 0303 health sciences, biology, Interleukin-12 Subunit p40, Middle Aged, Actinobacteria, Genetic Mapping, Infectious Diseases, Medical Microbiology, Viral Pathogens, Host-Pathogen Interactions, Viruses, Female, Pathogens, Research Article, Adult, Evolutionary Processes, Tuberculosis, Adolescent, Variant Genotypes, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Microbiology, Evolution, Molecular, Molecular Genetics, Mycobacterium tuberculosis, 03 medical and health sciences, Retroviruses, medicine, Humans, SNP, Allele, Microbial Pathogens, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Aged, 030304 developmental biology, Evolutionary Biology, Bacteria, Lentivirus, Organisms, Biology and Life Sciences, HIV, Human Genetics, Tropical Diseases, biology.organism_classification, medicine.disease, biology.protein, Genome, Bacterial, 030217 neurology & neurosurgery, Coevolution

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a585bfc2470584bebb34edf667da9e5cTest
https://doi.org/10.1371/journal.pgen.1008728Test

المؤلفون: Christine Plumeyer, Jérôme Waterval, Ellen Steenackers, Tolunay Beker Aydemir, Robert Cousins, Wim Van Hul, Geert Mortier, Vincent Everts, Timur A. Yorgan, Bjoern Busse, Thorsten Schinke, Vere Borra, Martin Lammens, Gretl Hendrickx, Christophe Hermans, Patrick C. D'Haese, Niels Kamerling, Ineke D. C. Jansen, Johannes J. Manni, Eveline Boudin, Robert J. Stokroos, Geert J. Behets

المساهمون: Periodontology, Oral Cell Biology, Parodontologie (OII, ACTA), Orale Celbiologie (ORM, ACTA)

المصدر: PLoS Genetics, Vol 14, Iss 4, p e1007321 (2018)
Plos Genetics, 14,
PLoS genetics
Hendrickx, G, Borra, V M, Steenackers, E, Yorgan, T A, Hermans, C, Boudin, E, Waterval, J J, Jansen, I D C, Aydemir, T B, Kamerling, N, Behets, G J, Plumeyer, C, D'Haese, P C, Busse, B, Everts, V, Lammens, M, Mortier, G, Cousins, R J, Schinke, T, Stokroos, R J, Manni, J J & van Hul, W 2018, ' Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis ', PLoS Genetics, vol. 14, no. 4, e1007321, pp. e1007321 . https://doi.org/10.1371/journal.pgen.1007321Test
PLoS Genetics, 14(4):e1007321. Public Library of Science
PLOS Genetics, 14(4):e1007321. Public Library of Science
PLoS Genetics
Plos Genetics, 14, 4, pp.

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Physiology, Organogenesis, Osteoclasts, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], DISEASE, ZINC TRANSPORTER ZIP14, Animal Cells, Medicine and Health Sciences, Homeostasis, Femur, Musculoskeletal System, Cation Transport Proteins, Cells, Cultured, Genetics (clinical), Connective Tissue Cells, Mice, Knockout, Skull Base, Genetics & Heredity, DENSITY DISTRIBUTION, TRANSGENIC MICE, NFAT, Animal Models, Hyperostosis, Phenotype, Cell biology, Zinc, medicine.anatomical_structure, Experimental Organism Systems, Connective Tissue, HEALTH, Cellular Types, Anatomy, Hyperostosis cranialis interna, Life Sciences & Biomedicine, Osteosclerosis, Research Article, Signal Transduction, lcsh:QH426-470, medicine.drug_class, Mouse Models, Biology, Research and Analysis Methods, Osteocytes, Cell Line, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Model Organisms, SDG 3 - Good Health and Well-being, Genetics, medicine, Animals, Humans, Bone, Molecular Biology, Skeleton, Ecology, Evolution, Behavior and Systematics, Osteoblasts, Bone Development, Science & Technology, RECEPTOR, Skull, HEK 293 cells, Biology and Life Sciences, Cell Biology, GENE, Mice, Inbred C57BL, Disease Models, Animal, lcsh:Genetics, Biological Tissue, HEK293 Cells, BOUND IRON, 030104 developmental biology, ACRODERMATITIS-ENTEROPATHICA, Estrogen, Mutation, Human medicine, Physiological Processes, Organism Development, EHLERS-DANLOS-SYNDROME, Developmental Biology

وصف الملف: Electronic-eCollection; application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409f65a85f3b0eb34d37e44418518809Test
https://dare.uva.nl/personal/pure/en/publications/conditional-mouse-models-support-the-role-of-slc39a14-zip14-in-hyperostosis-cranialis-interna-and-in-bone-homeostasisTest(2e23ef49-ad8c-49f9-b496-c1f29746300e).html