Literature DB >> 18028452

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.

Am Lund, F Joensen, E Christensen, M Dunø, F Skovby, M Schwartz.   

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Year:  2007        PMID： 18028452     DOI： 10.1111/j.1399-0004.2007.00926.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

Review 1.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

2.  Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Authors:  Yanqin Lu; Yanzhou Wang; Frank Rauch; Hu Li; Yao Zhang; Naixiang Zhai; Jian Zhang; Xiuzhi Ren; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2018-02

3.  Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.

Authors:  Brian Becknell; Gloria A Zender; Ronald Houston; Peter B Baker; Kim L McBride; Wentian Luo; David S Hains; Dorin-Bogdan Borza; Andrew L Schwaderer
Journal:  Kidney Int       Date:  2010-09-29       Impact factor: 10.612

4.  Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.

Authors:  Xianlong Shi; Yanqin Lu; Yanzhou Wang; Yu-Ang Zhang; Yuanwei Teng; Wanshui Han; Zhenzhong Han; Tianyou Li; Mei Chen; Junlong Liu; Fengling Fang; Conghui Dou; Xiuzhi Ren; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2015-02

5.  Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.

Authors:  Qing Xie; Devina Ung; Kamil Khafizov; Andras Fiser; Ales Cvekl
Journal:  Mol Vis       Date:  2014-03-06       Impact factor: 2.367

6.  Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

Authors:  Elena Makareeva; Guoli Sun; Lynn S Mirigian; Edward L Mertz; Juan C Vera; Nydea A Espinoza; Kathleen Yang; Diana Chen; Teri E Klein; Peter H Byers; Sergey Leikin
Journal:  PLoS One       Date:  2018-07-10       Impact factor: 3.240
  6 in total

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