Literature DB >> 11288717

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

A C Nicholls, D Valler, S Wallis, F M Pope.   

Abstract

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Year:  2001        PMID： 11288717      PMCID： PMC1734801          DOI： 10.1136/jmg.38.2.132

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Authors:  F Malfait; S Symoens; P Coucke; L Nunes; S De Almeida; A De Paepe
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

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.  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

Review 4.  Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Authors:  Letteria Anna Morabito; Anna Elsa Maria Allegri; Anna Paola Capra; Mario Capasso; Valeria Capra; Alberto Garaventa; Mohamad Maghnie; Silvana Briuglia; Malgorzata Gabriela Wasniewska
Journal:  Genes (Basel)       Date:  2022-03-25       Impact factor: 4.141

5.  Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Authors:  Ulrike Schwarze; Ryu-Ichiro Hata; Victor A McKusick; Hiroshi Shinkai; H Eugene Hoyme; Reed E Pyeritz; Peter H Byers
Journal:  Am J Hum Genet       Date:  2004-04-09       Impact factor: 11.025

6.  Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

Authors:  Kazuhiko Takahara; Ulrike Schwarze; Yasutada Imamura; Guy G Hoffman; Helga Toriello; Lynne T Smith; Peter H Byers; Daniel S Greenspan
Journal:  Am J Hum Genet       Date:  2002-07-17       Impact factor: 11.025

7.  A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Authors:  Thunyaporn Budsamongkol; Narin Intarak; Thanakorn Theerapanon; Somchai Yodsanga; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  Genes Dis       Date:  2019-03-16

8.  Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.

Authors:  Anna L Swan; Christine Schütt; Jan Rozman; Maria Del Mar Muñiz Moreno; Stefan Brandmaier; Michelle Simon; Stefanie Leuchtenberger; Mark Griffiths; Robert Brommage; Piia Keskivali-Bond; Harald Grallert; Thomas Werner; Raffaele Teperino; Lore Becker; Gregor Miller; Ala Moshiri; John R Seavitt; Derek D Cissell; Terrence F Meehan; Elif F Acar; Christopher J Lelliott; Ann M Flenniken; Marie-France Champy; Tania Sorg; Abdel Ayadi; Robert E Braun; Heather Cater; Mary E Dickinson; Paul Flicek; Juan Gallegos; Elena J Ghirardello; Jason D Heaney; Sylvie Jacquot; Connor Lally; John G Logan; Lydia Teboul; Jeremy Mason; Nadine Spielmann; Colin McKerlie; Stephen A Murray; Lauryl M J Nutter; Kristian F Odfalk; Helen Parkinson; Jan Prochazka; Corey L Reynolds; Mohammed Selloum; Frantisek Spoutil; Karen L Svenson; Taylor S Vales; Sara E Wells; Jacqueline K White; Radislav Sedlacek; Wolfgang Wurst; K C Kent Lloyd; Peter I Croucher; Helmut Fuchs; Graham R Williams; J H Duncan Bassett; Valerie Gailus-Durner; Yann Herault; Ann-Marie Mallon; Steve D M Brown; Philipp Mayer-Kuckuk; Martin Hrabe de Angelis
Journal:  PLoS Genet       Date:  2020-12-28       Impact factor: 6.020

Review 9.  Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Authors:  Cortney Gensemer; Randall Burks; Steven Kautz; Daniel P Judge; Mark Lavallee; Russell A Norris
Journal:  Dev Dyn       Date:  2020-08-17       Impact factor: 3.780

10.  Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Authors:  Charlotte Gistelinck; Ronald Y Kwon; Fransiska Malfait; Sofie Symoens; Matthew P Harris; Katrin Henke; Michael B Hawkins; Shannon Fisher; Patrick Sips; Brecht Guillemyn; Jan Willem Bek; Petra Vermassen; Hanna De Saffel; Paul Eckhard Witten; MaryAnn Weis; Anne De Paepe; David R Eyre; Andy Willaert; Paul J Coucke
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-06       Impact factor: 11.205
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