المساهمون: Lwaki Ebarasi, Shazia Ashraf, Arindam Majumdar, Friedhelm Hildebrandt, Moin A. Saleem, Shawn Levy, Erkin Serdaroglu, Ismail Dursun, Michael A. Simpson, Ania Koziell, Humphrey Fang, Virginia Vega-Warner, Werner Pabst, Carolin E. Sadowski, Svjetlana Lovric, Hugh J. McCarthy, Heon Yung Gee, Agnieszka Bierzynska, Gee, Heon Yung

المصدر: T201510007.pdf

مصطلحات موضوعية: Amino Acid Sequence, Animals, Carrier Proteins/genetics, Carrier Proteins/metabolism, Child, Preschool, Chromosome Mapping, Exome, Genes, Recessive, Homozygote, Humans, Infant, Kidney Failure, Chronic/etiology, Chronic/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Mutation, Nephrotic Syndrome/complications, Nephrotic Syndrome/genetics, Podocytes, Rats, Zebrafish/genetics

وصف الملف: 153~161

العلاقة: AMERICAN JOURNAL OF HUMAN GENETICS; J00086; OAK-2015-02820; https://ir.ymlib.yonsei.ac.kr/handle/22282913/141800Test; T201504422; AMERICAN JOURNAL OF HUMAN GENETICS, Vol.96(1) : 153-161, 2015

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.11.014Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141800Test

المؤلفون: Morozov, Vladimir, Thi, Viet Loan Dao, Denner, Joachim

مصطلحات موضوعية: Animals, Humans, Amino Acid Sequence, Molecular Sequence Data, Mice, Peptides/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Leukocytes Mononuclear/metabolism, Viral Proteins/genetics, Viral Proteins/chemistry, Viral Proteins/metabolism, Mice Inbred BALB C, Blotting Western, Binding Sites/genetics, Cell Line Tumor, Cell Proliferation/drug effects, Cells Cultured, Cytokines/genetics, Cytokines/secretion, Endogenous Retroviruses/genetics, Endogenous Retroviruses/metabolism, HEK293 Cells, Interleukin-10/genetics, Interleukin-10/secretion, Leukocytes Mononuclear/cytology, Membrane Proteins/chemistry, Oligonucleotide Array Sequence Analysis, Peptides/pharmacology, Spleen/cytology

وصف الملف: application/pdf

العلاقة: http://edoc.rki.de/oa/articles/revdkUHbKWIhQ/PDF/24fwAESxr7OAM.pdfTest; http://edoc.rki.de/176904/1641Test; urn:nbn:de:0257-10032445; http://dx.doi.org/10.25646/1566Test

الإتاحة: https://doi.org/10.1371/journal.pone.0070399Test
https://doi.org/10.25646/1566Test
http://edoc.rki.de/oa/articles/revdkUHbKWIhQ/PDF/24fwAESxr7OAM.pdfTest
http://edoc.rki.de/176904/1641Test
https://nbn-resolving.org/urn:nbn:de:0257-10032445Test

المساهمون: Angela R. Ingermann, Yong-Feng Yang, Jinfeng Han, Aki Mikami, Ama E. Garza, Lathika Mohanraj, Lingbo Fan, Michael Idowu, Joy L. Ware, Ho-Seong Kim, Dae-Yeol Lee, Youngman Oh, Kim, Ho Seong

المصدر: T201003684.pdf

مصطلحات موضوعية: Animals, Apoptosis, Base Sequence, Breast Neoplasms/genetics, Breast Neoplasms/metabolism, Breast Neoplasms/pathology, Caspase 8/genetics, Caspase 8/metabolism, Cell Line, Tumor, Female, Gene Expression Regulation, Neoplastic/genetics, Gene Knockdown Techniques, Humans, Insulin-Like Growth Factor Binding Protein 3, Insulin-Like Growth Factor Binding Proteins/genetics, Insulin-Like Growth Factor Binding Proteins/metabolism, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mice, Nude, Molecular Sequence Data, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Neoplasm Transplantation, Prostatic Neoplasms/genetics, Prostatic Neoplasms/metabolism, Prostatic Neoplasms/pathology

وصف الملف: 30233~30246

العلاقة: JOURNAL OF BIOLOGICAL CHEMISTRY; J01258; OAK-2010-02028; https://ir.ymlib.yonsei.ac.kr/handle/22282913/102428Test; T201003684; JOURNAL OF BIOLOGICAL CHEMISTRY, Vol.285(39) : 30233-30246, 2010

الإتاحة: https://doi.org/10.1074/jbc.M110.122226Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/102428Test

المؤلفون: Gunnar Houge, Axel von der Wense, Christian Becker, Pierre Bitoun, Francesca Pasutto, Gudrun Nürnberg, David Chitayat, John Tolmie, Peter Meinecke, David R. FitzPatrick, André Reis, Anne Slavotinek, Geert Mortier, Gerhard Hammersen, Sarah Keating, Raoul C.M. Hennekam, Heinrich Sticht, Peter Nürnberg, Heidemarie Schirmer-Zimmermann, Lorena Fernández-Martínez, Gabriele Gillessen-Kaesbach, Frank Brasch, Anita Rauch

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics

المصدر: American journal of human genetics, 80(3), 550-560. Cell Press
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203Test

مصطلحات موضوعية: Receptors, Cell Surface/genetics, Male, Alveolar capillary dysplasia, Hernia, Diaphragmatic/genetics, Vitamin A transport, Consanguinity, Abnormalities, Multiple/genetics, Missense mutation, Genetics(clinical), Diaphragmatic hernia, Phosphorylation, Lung/abnormalities, Lung, Genetics (clinical), Genetics, Pulmonary Alveoli/blood supply, Disease gene identification, Heart Defects, Congenital/genetics, Pedigree, Transmembrane domain, Female, Adult, Heart Defects, Congenital, Mutation/genetics, Adolescent, Lung/pathology, Molecular Sequence Data, Receptors, Cell Surface, Biology, Chromosome 15, Report, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Membrane Proteins/genetics, Hernia, Diaphragmatic, Anophthalmia, Anophthalmos/genetics, Sequence Homology, Amino Acid, Infant, Newborn, Anophthalmos, Infant, Membrane Proteins, medicine.disease, Intellectual Disability/genetics, Capillaries, Pulmonary Alveoli, Mutation, Capillaries/abnormalities, Membrane Proteins/metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10b189ca45bb1063918f5ed1932b6bfTest
https://doi.org/10.1086/512203Test

المساهمون: Stefanovic, Lela (authoraut), Longo, Liam (authoraut), Zhang, Yujie (authoraut), Stefanovic, Branko (authoraut)

مصطلحات موضوعية: 5' Untranslated Regions/genetics, Amino Acid Sequence, Autoantigens/genetics, Autoantigens/metabolism, Base Sequence, Binding Sites/genetics, Binding, Competitive, Collagen/genetics, Collagen/metabolism, Collagen Type I/genetics, Collagen Type I/metabolism, HEK293 Cells, Humans, Immunoblotting, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Mutation, Nucleic Acid Conformation, Protein Binding, Protein Isoforms/genetics, Protein Isoforms/metabolism, Protein Stability, RNA, Messenger/chemistry, Messenger/genetics, Messenger/metabolism, Spliced Leader/chemistry, Spliced Leader/genetics

وصف الملف: 1 online resource; computer

العلاقة: RNA biology--1555-8584--1555-8584; fsu:523923; (IID) FSU_pmch_25692237; (DOI) 10.1080/15476286.2014.996467; (PMCID) PMC4615758; (RID) 25692237; (EID) 25692237; https://diginole.lib.fsu.edu/islandora/object/fsu%3A523923/datastream/TN/view/Characterization%20of%20binding%20of%20LARP6%20to%20the%205%27%20stem-loop%20of%20collagen%20mRNAs.jpgTest

الإتاحة: https://diginole.lib.fsu.edu/islandora/object/fsu%3A523923/datastream/TN/view/Characterization%20of%20binding%20of%20LARP6%20to%20the%205%27%20stem-loop%20of%20collagen%20mRNAs.jpgTest

المؤلفون: Roppolo, D., De Rybel, B., Tendon, V.D., Pfister, A., Alassimone, J., Vermeer, J.E., Yamazaki, M., Stierhof, Y.D., Beeckman, T., Geldner, N.

المصدر: Nature, vol. 473, no. 7347, pp. 380-383

مصطلحات موضوعية: Arabidopsis/cytology, Arabidopsis/metabolism, Arabidopsis Proteins/genetics, Arabidopsis Proteins/metabolism, Biopolymers/chemistry, Biopolymers/metabolism, Cell Membrane/metabolism, Diffusion, Extracellular Space/metabolism, Hydrophobic and Hydrophilic Interactions, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Multigene Family, Plant Roots/cytology, Plant Roots/metabolism, Protein Binding

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21593871; info:eu-repo/semantics/altIdentifier/eissn/1476-4687; https://serval.unil.ch/notice/serval:BIB_68ED0DC7BD13Test; urn:issn:0028-0836

الإتاحة: https://doi.org/10.1038/nature10070Test
https://serval.unil.ch/notice/serval:BIB_68ED0DC7BD13Test

المساهمون: Li, Yong (authoraut), Liu, Xinqiu (authoraut), Wu, Yuying (authoraut), Xu, Zhe (authoraut), Li, Hongqin (authoraut), Griffith, Leslie C (authoraut), Zhou, Yi (authoraut)

مصطلحات موضوعية: Amino Acid Sequence, Animals, CHO Cells, Cricetinae, Cricetulus, Drosophila/physiology, Drosophila Proteins/chemistry, Drosophila Proteins/genetics, Drosophila Proteins/metabolism, Ether-A-Go-Go Potassium Channels/chemistry, Ether-A-Go-Go Potassium Channels/genetics, Ether-A-Go-Go Potassium Channels/metabolism, Ion Channel Gating/physiology, Membrane Potentials/physiology, Membrane Proteins/chemistry, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Mutagenesis, Potassium/metabolism, Protein Folding, Protein Structure, Tertiary, Protein Transport/physiology, Recombinant Proteins/chemistry, Recombinant Proteins/genetics, Recombinant Proteins/metabolism, Temperature

وصف الملف: 1 online resource; computer

العلاقة: The Journal of biological chemistry--1083-351X--1083-351X; fsu:523822; (IID) FSU_pmch_21059657; (DOI) 10.1074/jbc.M110.184077; (PMCID) PMC3020747; (RID) 21059657; (EID) 21059657; (PII) M110.184077; https://diginole.lib.fsu.edu/islandora/object/fsu%3A523822/datastream/TN/view/Intracellular%20regions%20of%20the%20Eag%20potassium%20channel%20play%20a%20critical%20role%20in%20generation%20of%20voltage-dependent%20currents.jpgTest

الإتاحة: https://diginole.lib.fsu.edu/islandora/object/fsu%3A523822/datastream/TN/view/Intracellular%20regions%20of%20the%20Eag%20potassium%20channel%20play%20a%20critical%20role%20in%20generation%20of%20voltage-dependent%20currents.jpgTest

المؤلفون: Dye, D.E., Karlen, S., Rohrbach, B., Staub, O., Braathen, L.R., Eidne, K.A., Coombe, D.R.

المصدر: Cellular and molecular life sciences : CMLS, vol. 66, no. 4, pp. 681-696

مصطلحات موضوعية: Actins/metabolism, Alternative Splicing, Amino Acid Sequence, Animals, Antigens, CD146/genetics, CD146/metabolism, Cell Line, Cytoskeleton/metabolism, Humans, Melanoma/genetics, Melanoma/metabolism, Membrane Proteins/genetics, Membrane Proteins/metabolism, Microfilament Proteins/genetics, Microfilament Proteins/metabolism, Molecular Sequence Data, Protein Isoforms/genetics, Protein Isoforms/metabolism, Recombinant Fusion Proteins/genetics, Recombinant Fusion Proteins/metabolism, Two-Hybrid System Techniques

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19137261; info:eu-repo/semantics/altIdentifier/pissn/1420-9071[electronic]; https://serval.unil.ch/notice/serval:BIB_8202F0435673Test

الإتاحة: https://doi.org/10.1007/s00018-009-8645-1Test
https://serval.unil.ch/notice/serval:BIB_8202F0435673Test

المؤلفون: Wattenhofer, M., Sahin-Calapoglu, N., Andreasen, D., Kalay, E., Caylan, R., Braillard, B., Fowler-Jaeger, N., Reymond, A., Rossier, B.C., Karaguzel, A., Antonarakis, S.E.

المصدر: Human Genetics, vol. 117, no. 6, pp. 528-535

مصطلحات موضوعية: Amino Acid Sequence, Chromosomes, Human, Pair 21, Deafness/genetics, Female, Haplotypes, Humans, Linkage (Genetics), Lod Score, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Mutation, Missense, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Pedigree, Serine Endopeptidases/genetics, Serine Endopeptidases/metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16021470; info:eu-repo/semantics/altIdentifier/pissn/0340-6717[print], 0340-6717[linking]; https://serval.unil.ch/notice/serval:BIB_FFEE7EE86CAATest

الإتاحة: https://doi.org/10.1007/s00439-005-1332-xTest
https://serval.unil.ch/notice/serval:BIB_FFEE7EE86CAATest

المؤلفون: Tapparel, C., Reymond, A., Girardet, C., Guillou, L., Lyle, R., Lamon, C., Hutter, P., Antonarakis, S.E.

المصدر: Gene, vol. 323, pp. 189-199

مصطلحات موضوعية: Alternative Splicing, Amino Acid Sequence, Animals, Base Sequence, COS Cells, Cell Line, Cercopithecus aethiops, Chromosomes, Human, Pair 22/genetics, DNA, Complementary/chemistry, Complementary/genetics, Female, Gene Expression Regulation, Enzymologic, Green Fluorescent Proteins, Hela Cells, Humans, Immunohistochemistry, Luminescent Proteins/genetics, Luminescent Proteins/metabolism, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Microscopy, Fluorescence, Molecular Sequence Data, Mutation, PTEN Phosphohydrolase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/14659893; info:eu-repo/semantics/altIdentifier/pissn/0378-1119; https://serval.unil.ch/notice/serval:BIB_659B70655923Test; urn:issn:0378-1119

الإتاحة: https://doi.org/10.1016/j.gene.2003.09.038Test
https://serval.unil.ch/notice/serval:BIB_659B70655923Test