المؤلفون: Kouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, Tomomi Yamaguchi, Yoshinori Kawabata, Yuko Inai, Shogo Imamura, Sakiko Sanada

المصدر: Respiratory Medicine Case Reports, Vol 44, Iss , Pp 101870- (2023)

مصطلحات موضوعية: Pleuroparenchymal fibroelastosis, Fibrillin-2, Congenital contractural arachnodactyly, Marfan syndrome, Elastic fiber, Reticular fiber, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213007123000655Test; https://doaj.org/toc/2213-0071Test

الوصول الحر: https://doaj.org/article/eb2fbe59794b47ddbb2f92b358241168Test

المؤلفون: Guo, Xingping, Song, Chunying, Shi, Yaping, Li, Hongxia, Meng, Weijing, Yuan, Qinzhao, Xue, Jinjie, Xie, Jun, Liang, Yunxia, Yuan, Yanan, Yu, Baofeng, Wang, Huaixiu, Chen, Yun, Qi, Lixin, Li, Xinmin

المصدر: BMC Medical Genomics. 17(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Rare Diseases, Clinical Research, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Sequence, Animals, Arachnodactyly, Asian People, Base Sequence, China, Contracture, DNA, DNA Mutational Analysis, Fibrillin-2, Genotype, Humans, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Sequence Alignment, Whole exome sequencing, FBN2, Mutation, Congenital contractural arachnodactyly, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9pn0b092Test

المؤلفون: Liying Sun, Yingzhao Huang, Sen Zhao, Wenyao Zhong, Jile Shi, Yang Guo, Junhui Zhao, Ge Xiong, Yuehan Yin, Zefu Chen, Nan Zhang, Zongxuan Zhao, Qingyang Li, Dan Chen, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Wen Tian, Nan Wu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: FBN2 (fibrillin-2), congenital contractural arachnodactyly, arthrogryposis, novel variants, clinical genetics, musculo-skeletal diseases, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.804202/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/dd71cbe7517b4d9ea945ab22c554e427Test

المؤلفون: Boizot, Jérémy, Minville-Walz, Mélaine, Reinhardt, Dieter Peter, Bouschbacher, Marielle, Sommer, Pascal, Sigaudo-Roussel, Dominique, Debret, Romain

المساهمون: Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), McGill University = Université McGill Montréal, Canada

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: fibrillin-2, elastin, elastic fiber, hypoxia, skin wound, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]

العلاقة: hal-03603300; https://hal.science/hal-03603300Test; https://hal.science/hal-03603300/documentTest; https://hal.science/hal-03603300/file/Boizot%20et%20al%20%28IJMS%202022%29.pdfTest; PUBMEDCENTRAL: PMC8836539

الإتاحة: https://doi.org/10.3390/ijms23031824Test
https://hal.science/hal-03603300Test
https://hal.science/hal-03603300/documentTest
https://hal.science/hal-03603300/file/Boizot%20et%20al%20%28IJMS%202022%29.pdfTest

المؤلفون: Jérémy Boizot, Mélaine Minville-Walz, Dieter Peter Reinhardt, Marielle Bouschbacher, Pascal Sommer, Dominique Sigaudo-Roussel, Romain Debret

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1824

مصطلحات موضوعية: fibrillin-2, elastin, elastic fiber, hypoxia, skin wound

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Macromolecules; https://dx.doi.org/10.3390/ijms23031824Test

الإتاحة: https://doi.org/10.3390/ijms23031824Test

المؤلفون: Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N, Branham, Kari E, Zipprer, David, Chakarova, Christina F, Sergeev, Yuri V, Campos, Maria M, Othman, Mohammad, Friedman, James S, Maminishkis, Arvydas, Waseem, Naushin H, Brooks, Matthew, Rajasimha, Harsha K, Edwards, Albert O, Lotery, Andrew, Klein, Barbara E, Truitt, Barbara J, Li, Bingshan, Schaumberg, Debra A, Morgan, Denise J, Morrison, Margaux A, Souied, Eric, Tsironi, Evangelia E, Grassmann, Felix, Fishman, Gerald A, Silvestri, Giuliana, Scholl, Hendrik PN, Kim, Ivana K, Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E, Merriam, John C, Park, Kyu Hyung, Olson, Lana M, Farrer, Lindsay A, Johnson, Matthew P, Peachey, Neal S, Lathrop, Mark, Baron, Robert V, Igo, Robert P, Klein, Ronald, Hagstrom, Stephanie A, Kamatani, Yoichiro, Martin, Tammy M, Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J, Chan, Chi-Chao, Pericak-Vance, Margaret A, Jacobson, Samuel G, Gorin, Michael B, Klein, Michael L, Allikmets, Rando, Iyengar, Sudha K, Weber, Bernhard H, Haines, Jonathan L, Léveillard, Thierry, Deangelis, Margaret M, Stambolian, Dwight, Weeks, Daniel E, Bhattacharya, Shomi S, Chew, Emily Y, Heckenlively, John R, Abecasis, Gonçalo R, Swaroop, Anand

المصدر: Human Molecular Genetics. 23(21)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Human Genome, Neurodegenerative, Genetics, Clinical Research, Macular Degeneration, Aging, 2.1 Biological and endogenous factors, Aetiology, Eye, Adult, Aged, Amino Acid Sequence, Bruch Membrane, DNA Mutational Analysis, Exome, Extracellular Matrix, Fibrillin-2, Fibrillins, Genetic Association Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Meta-Analysis as Topic, Microfilament Proteins, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, Protein Stability, Retina, Sequence Alignment, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4t34q41cTest

المؤلفون: Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, De Burca, Anna, Destree, Anne, Garcia-Minaur, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribai, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniel, Symoens, Sofie, Callewaert, Bert

المصدر: Meerschaut , I , De Coninck , S , Steyaert , W , Barnicoat , A , Bayat , A , Benedicenti , F , Berland , S , Blair , E M , Breckpot , J , De Burca , A , Destree , A , Garcia-Minaur , S , Green , A J , Hanna , B C , Keymolen , K , Koopmans , M , Lederer , D , Lees , M , Longman , C , Lynch , S A , Male , A M , McKenzie , F , Migeotte , I , ....

مصطلحات موضوعية: congenital contractural arachnodactyly, Beals syndrome, fibrillin-2, clinical score, diagnostic criteria, MARFAN-SYNDROME, FBN2 MUTATIONS, FIBRILLIN, PATHOGENESIS, PROBANDS, DELINEATION, DILATATION, DISORDER

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/220cefa5-d8d0-4c40-ae22-d1670e836230Test

الإتاحة: https://doi.org/10.1038/s41436-019-0609-8Test
https://hdl.handle.net/11370/220cefa5-d8d0-4c40-ae22-d1670e836230Test
https://research.rug.nl/en/publications/220cefa5-d8d0-4c40-ae22-d1670e836230Test
https://pure.rug.nl/ws/files/119049556/s41436_019_0609_8.pdfTest

المؤلفون: Saira Siddiqui, Laurie Panesar

المصدر: Annals of Pediatric Cardiology, Vol 12, Iss 2, Pp 150-152 (2019)

مصطلحات موضوعية: Beals syndrome, dilated great arteries, fibrillin-2 mutation, Medicine, Pediatrics, RJ1-570, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.annalspc.com/article.asp?issn=0974-2069;year=2019;volume=12;issue=2;spage=150;epage=152;aulast=SiddiquiTest; https://doaj.org/toc/0974-2069Test

الوصول الحر: https://doaj.org/article/ab406ed1ebe74c798a76e77b6955b196Test

المؤلفون: Lauriane Sedes, Elisa Wondimu, Brittany Crockett, Jens Hansen, Anna Cantalupo, Keiichi Asano, Ravi Iyengar, Daniel B Rifkin, Silvia Smaldone, Francesco Ramirez

المصدر: Hum Mol Genet

مصطلحات موضوعية: Fibrillin-2, Fibrillin-1, Microfilament Proteins, General Medicine, Fibrillins, Marfan Syndrome, Mice, Latent TGF-beta Binding Proteins, Transforming Growth Factor beta, Genetics, Animals, Original Article, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560d1324d25de6ac561b62fe4d391112Test
https://doi.org/10.1093/hmg/ddac107Test

المؤلفون: Furu Xu, Dadong Guo, Qian Jiang, Ruixue Zhang, Ting Yu, Xuewei Yin, Shanshan Wu, Dezheng Liu, Ying Wen, Jianfeng Wu, Ailing Bi, Wenjun Jiang, Hongsheng Bi

المصدر: Clinical and Experimental Pharmacology and Physiology. 49:586-595

مصطلحات موضوعية: Pharmacology, Mice, Fibrillin-2, Physiology, Physiology (medical), Retinal Degeneration, Animals, Retina, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece9d4c6d8531383e2019797231380e6Test
https://doi.org/10.1111/1440-1681.13631Test