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Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification 期刊论文
发表期刊: ORPHANET JOURNAL OF RARE DISEASES. 出版年: 2023, 卷号: 18, 期号: 1
作者:  Yu, Hongjie;  Li, Changrong;  Wu, Huixiao;  Xia, Weibo;  Wang, Yanzhou;  Zhao, Jiajun;  Xu, Chao
收藏  |  浏览/下载：20/0  |  提交时间：2024/09/29
Osteogenesis imperfecta  Pathogenic mechanism  Classification  
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta 期刊论文
发表期刊: FRONTIERS IN GENETICS. 出版年: 2021, 卷号: 12
作者:  Lim, Pei Jin;  Marfurt, Severin;  Lindert, Uschi;  Opitz, Lennart;  Ndarugendamwo, Timothee;  Srikanthan, Pakeerathan;  Poms, Martin;  Hersberger, Martin;  Langhans, Claus-Dieter;  Haas, Dorothea;  Rohrbach, Marianne;  Giunta, Cecilia
收藏  |  浏览/下载：28/0  |  提交时间：2021/07/30
X-linked osteogenesis imperfecta  connective tissue  transcriptomics  MBTPS2  site 2 protease  
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1 期刊论文
发表期刊: MOLECULAR GENETICS & GENOMIC MEDICINE. 出版年: 2019, 卷号: 7, 期号: 8
作者:  Cayami, Ferdy K.;  Maugeri, Alessandra;  Treurniet, Sanne;  Setijowati, Eva D.;  Teunissen, Bernd P.;  Eekhoff, Elisabeth M. W.;  Pals, Gerard;  Faradz, Sultana M.;  Micha, Dimitra
收藏  |  浏览/下载：33/0  |  提交时间：2019/11/29
hereditary  osteogenesis imperfecta  osteoporosis  skeletal dysplasia  
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy 期刊论文
发表期刊: BONE. 出版年: 2018, 卷号: 114, 页码: 268-277
作者:  Lindahl, Katarina;  Astrom, Eva;  Dragomir, Anca;  Symoens, Sofie;  Coucke, Paul;  Larsson, Sune;  Paschalis, Eleftherios;  Roschger, Paul;  Gamsjaeger, Sonja;  Klaushofer, Klaus;  Fratzl-Zelman, Nadja;  Kindmark, Andreas
收藏  |  浏览/下载：12/0  |  提交时间：2019/11/29
Osteogenesis imperfecta  Recessive  Collagen type 1  Glycosaminoglycan  OASIS  CREB3L1  
Monoallelic and biallelic &ITCREB3L1 &ITvariant causes mild and severe osteogenesis imperfecta, respectively 期刊论文
发表期刊: GENETICS IN MEDICINE. 出版年: 2018, 卷号: 20, 期号: 4, 页码: 411-419
作者:  Keller, Rachel B.;  Tran, Thao T.;  Pyott, Shawna M.;  Pepin, Melanie G.;  Savarirayan, Ravi;  McGillivray, George;  Nickerson, Deborah A.;  Bamshad, Michael J.;  Byers, Peter H.
收藏  |  浏览/下载：14/0  |  提交时间：2019/11/29
bone  COPII  CREB3L1  OASIS  osteogenesis imperfecta  
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation 期刊论文
发表期刊: CURRENT OPINION IN PEDIATRICS. 出版年: 2014, 卷号: 26, 期号: 4, 页码: 500-507
作者:  Marini, Joan C.;  Reich, Adi;  Smith, Simone M.
收藏  |  浏览/下载：15/0  |  提交时间：2019/11/29
bone dysplasia  collagen  OI  osteogenesis imperfecta  recessive osteogenesis imperfecta  
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans 期刊论文
发表期刊: ORPHANET JOURNAL OF RARE DISEASES. 出版年: 2013, 卷号: 8
作者:  Symoens, Sofie;  Malfait, Fransiska;  D’hondt, Sanne;  Callewaert, Bert;  Dheedene, Annelies;  Steyaert, Wouter;  Bachinger, Hans Peter;  De Paepe, Anne;  Kayserili, Hulya;  Coucke, Paul J.
收藏  |  浏览/下载：13/0  |  提交时间：2019/11/29
Osteogenesis imperfecta  Type I collagen  OASIS  CREB3L1  Endoplasmic reticulum stress  
Osteogenesis imperfecta in the archeological record: An example from the Dakhleh Oasis, Egypt 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF PALEOPATHOLOGY. 出版年: 2011, 卷号: 1, 期号: 3-4, 页码: 188-199
作者:  Cope, Darcy J.;  Dupras, Tosha L.
收藏  |  浏览/下载：20/0  |  提交时间：2019/11/29
Osteogenesis imperfecta  Fetal skeletal remains  Paleopathology  Differential diagnosis  Egypt  Dakhleh Oasis  
Effects of the bisphosphonate risedronate on osteopenia in OASIS-deficient mice 期刊论文
发表期刊: JOURNAL OF BONE AND MINERAL METABOLISM. 出版年: 2010, 卷号: 28, 期号: 4, 页码: 384-394
作者:  Sekiya, Hiroshi;  Murakami, Tomohiko;  Saito, Atsushi;  Hino, Shin-ichiro;  Tsumagari, Kenji;  Ochiai, Kimiko;  Imaizumi, Kazunori
收藏  |  浏览/下载：14/0  |  提交时间：2019/11/29
OASIS  Collagen fibrils  Osteogenesis imperfecta  Bisphosphonate  Endoplasmic reticulum