Zobrazeno 1 - 10
of 70
pro vyhledávání: '"GERODERMIA OSTEODYSPLASTICA"'
Akademický článek
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Publikováno v:
Genetics and Molecular Biology, Vol 28, Iss 2, Pp 181-190 (2005)
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of
Externí odkaz:
https://doaj.org/article/4bfe75760ffa429b933be671c1e06f3a
Autor:
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
Publikováno v:
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⟩
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⟩
COPI is a key mediator of protein trafficking within the secretory pathway. COPI is recruited to the membrane primarily through binding to Arf GTPases, upon which it undergoes assembly to form coated transport intermediates responsible for traffickin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::827aafce435f5b77129d570b4b3a18ff
https://doaj.org/article/dc9f0e13809c4552a229477915667865
https://doaj.org/article/dc9f0e13809c4552a229477915667865
Autor:
Scherrer, Daniel Zanetti
Publikováno v:
Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Orientadores: Carlos Eduardo Steiner, Claudia Vianna Maurer Morelli Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: Cutis laxa autossômica tipo II (CLAR tipo II) é um distúrbio raro do tecido conectivo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e833a2f4a15549fbb0ab4d00c630574d
https://doi.org/10.47749/t/unicamp.2012.849602
https://doi.org/10.47749/t/unicamp.2012.849602
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
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
Publikováno v:
Journal of Biomechanics. 65:145-153
Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset osteoporosis and bone fragility. A conditional mouse model of GO (GorabPrx1) was generated in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c0599d77080a11ee2462a762546ffb9
https://doi.org/10.1016/j.jbiomech.2017.10.018
https://doi.org/10.1016/j.jbiomech.2017.10.018
Autor:
Edoardo Giacopuzzi, Valeria Cinquina, Marina Venturini, Marco Ritelli, Nicola Chiarelli, Marina Colombi
Publikováno v:
Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)
The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bf110068a0faace8990b4d380e931e
http://europepmc.org/articles/PMC6770791
http://europepmc.org/articles/PMC6770791
Autor:
Andreas Roschger, Michael Thelen, Georg N. Duda, Bettina M. Willie, Richard Weinkamer, Uwe Kornak, Wing Lee Chan
Publikováno v:
Healthy Aging – Bone and Joint.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1baff0a738a20165d6b1d7f78a98b13b
https://doi.org/10.1055/s-0039-1679976
https://doi.org/10.1055/s-0039-1679976
Publikováno v:
Bone Reports, Vol 13, Iss, Pp 100621-(2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f934078dc7d634e85bc39e20ed4825
https://doi.org/10.1016/j.bonr.2020.100621
https://doi.org/10.1016/j.bonr.2020.100621
Autor:
Ryojun Takeda, Hiroshi Yoshihashi, Tomonobu Hasegawa, Satoshi Narumi, Hiroshi Futagawa, Hiroyuki Shinohara, Masaki Takagi, Gen Nishimura
Publikováno v:
European journal of medical genetics. 60(12)
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837fd30bb051f51da921e09eceb6b8ba
https://pubmed.ncbi.nlm.nih.gov/28807865
https://pubmed.ncbi.nlm.nih.gov/28807865