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المؤلفون: Steiner, Carlos Eduardo, Cintra, Maria Letícia, Marques-de-Faria, Antonia Paula

المصدر: Genetics and Molecular Biology. January 2005 28(2)

مصطلحات موضوعية: cutis laxa, De Barsy syndrome, gerodermia osteodysplastica, wrinkly skin syndrome

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001

المؤلفون: Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria

المصدر: Genetics and Molecular Biology, Vol 28, Iss 2, Pp 181-190 (2005)

مصطلحات موضوعية: cutis laxa, De Barsy syndrome, gerodermia osteodysplastica, wrinkly skin syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/4bfe75760ffa429b933be671c1e06f3a

المؤلفون: Scherrer, Daniel Zanetti

المساهمون: Steiner, Carlos Eduardo, 1969, Maurer-Morelli, Cláudia Vianna, 1966, Oliveira, Camila Andrea de, Kim, Chong Ae, Melo, Mônica Barbosa de, Lopes, Vera Lúcia Gil da Silva, Universidade Estadual de Campinas. Faculdade de Ciências Médicas, Programa de Pós-Graduação em Clínica Médica, UNIVERSIDADE ESTADUAL DE CAMPINAS

المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

مصطلحات موضوعية: Gerodermia osteodysplastica, Perfil da expressão genica, Sindrome da pele enrugada, Molecular biology, Wrinkly skin syndrome, Gerodermia osteodisplastica, Gene expression profile, Cutis laxa, Biologia molecular

وصف الملف: application/pdf; 144 p. : il.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e833a2f4a15549fbb0ab4d00c630574d
https://doi.org/10.47749/t/unicamp.2012.849602

المؤلفون: Witkos, Tomasz M., Chan, Wing Lee, Joensuu, Merja, Rhiel, Manuel, Pallister, Ed, Thomas-Oates, Jane, Mould, A. Paul, Mironov, Alex A., Biot, Christophe, Guerardel, Yann, Morelle, Willy, Ungar, Daniel, Wieland, Felix T., Jokitalo, Eija, Tassabehji, May, Kornak, Uwe, Lowe, Martin

المساهمون: Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Department of Molecular Biology, Princeton University, HiLIFE - Institute of Biotechnology [Helsinki] (BI), Helsinki Institute of Life Science (HiLIFE), University of Helsinki-University of Helsinki, Faculty of Life Sciences [Manchester], University of Manchester [Manchester], Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Université de Lille-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, University of Manchester Institute of Science and Technology [UMIST], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Universität Heidelberg [Heidelberg] = Heidelberg University, Department of Chemistry [York, UK], Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Department of Biology [York], Electron Microscopy, Institute of Biotechnology, Doctoral Programme in Integrative Life Science

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-018-08044-6⟩
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-018-08044-6⟩

مصطلحات موضوعية: Glycosylation, 119 Other natural sciences, Science, Golgi Apparatus, Dwarfism, Article, Coat Protein Complex I, ADP-RIBOSYLATION FACTOR, RECESSIVE FORM, OF-FUNCTION MUTATIONS, Humans, SCYL1, lcsh:Science, BETA-COP, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, COATED VESICLES, Bone Diseases, Carrier Proteins, Cells, Cultured, Enzymes, Golgi Matrix Proteins, HEK293 Cells, HeLa Cells, Mutation, Protein Binding, Protein Transport, RNA Interference, Skin Diseases, Genetic, Transcription Factors, COMPLEX, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], COATOMER, Skin Diseases, Genetic, GERODERMIA OSTEODYSPLASTICA, DNA-Binding Proteins, Adaptor Proteins, Vesicular Transport, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], MEMBRANE TRAFFICKING, lcsh:Q

وصف الملف: application/pdf; application/rdf+xml; charset=utf-8; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::827aafce435f5b77129d570b4b3a18ff
https://doaj.org/article/dc9f0e13809c4552a229477915667865

المؤلفون: Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)

مصطلحات موضوعية: autosomal recessive cutis laxa 2A, autosomal recessive cutis laxa 2B, geroderma osteodysplastica, Pyrroline-5-carboxylate reductase 1 (PYCR1), ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2), GOLGIN, RAB6-INTERACTING (GORAB), Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/18/3/635; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/4c166db2fb024c9bbcbc1fe5b7799b2c

المؤلفون: Uwe Kornak, Bettina M. Willie, Wing Lee Chan, Sara Checa, Michael Thelen, Lyudmila Spevak, Laia Albiol, Dag Wulsten, Adele L. Boskey, Tobias Thiele, Haisheng Yang, Anne Seliger

المصدر: Journal of Biomechanics. 65:145-153

مصطلحات موضوعية: 0301 basic medicine, Premature aging, Bone morphology, Chemistry, Rehabilitation, Osteoporosis, Biomedical Engineering, Biophysics, 030209 endocrinology & metabolism, Anatomy, Matrix (biology), medicine.disease, Gerodermia osteodysplastica, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Cortex (anatomy), medicine, Orthopedics and Sports Medicine, Tibia, Tissue composition

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1c0599d77080a11ee2462a762546ffb9
https://doi.org/10.1016/j.jbiomech.2017.10.018

المؤلفون: Edoardo Giacopuzzi, Valeria Cinquina, Marina Venturini, Marco Ritelli, Nicola Chiarelli, Marina Colombi

المصدر: Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)

مصطلحات موضوعية: 0301 basic medicine, Nosology, lcsh:QH426-470, Adolescent, Heart malformation, spondylodysplastic Ehlers-Danlos syndrome, spondylo-ocular syndrome, linkeropathies, Dwarfism, B4GALT7, 030105 genetics & heredity, Biology, Compound heterozygosity, Osteochondrodysplasias, Short stature, Gerodermia osteodysplastica, Article, XYLT2, Marfan Syndrome, 03 medical and health sciences, Craniosynostoses, Desbuquois dysplasia, B3GAT3, Genetics, medicine, Humans, Glucuronosyltransferase, Genetics (clinical), B3GALT6, Larsen-like syndrome, Linkeropathies, Spondylo-ocular syndrome, Spondylodysplastic Ehlers-Danlos syndrome, XYLT1, Skin Diseases, Genetic, medicine.disease, Phenotype, lcsh:Genetics, Arachnodactyly, 030104 developmental biology, Dysplasia, Mutation, Female, medicine.symptom, Bone Diseases, Antley-Bixler Syndrome Phenotype

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bf110068a0faace8990b4d380e931e
http://europepmc.org/articles/PMC6770791

المؤلفون: Andreas Roschger, Michael Thelen, Georg N. Duda, Bettina M. Willie, Richard Weinkamer, Uwe Kornak, Wing Lee Chan

المصدر: Healthy Aging – Bone and Joint.

مصطلحات موضوعية: medicine.anatomical_structure, Chemistry, Osteocyte, medicine, medicine.disease, Gerodermia osteodysplastica, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1baff0a738a20165d6b1d7f78a98b13b
https://doi.org/10.1055/s-0039-1679976

المؤلفون: Uwe Kornak, Stefan Mundlos, Wing Lee Chan, Jonathan Goldes, M. Steiner, Alvin C. Ma

المصدر: Bone Reports, Vol 13, Iss, Pp 100621-(2020)

مصطلحات موضوعية: Senescence, lcsh:Diseases of the musculoskeletal system, business.industry, Endocrinology, Diabetes and Metabolism, Osteoporosis, medicine, Cancer research, Orthopedics and Sports Medicine, lcsh:RC925-935, medicine.disease, business, Gerodermia osteodysplastica, Transforming growth factor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f934078dc7d634e85bc39e20ed4825
https://doi.org/10.1016/j.bonr.2020.100621