Literature DB >> 20662858

Autosomal recessive LMNA mutation causing restrictive dermopathy.

G J Youn, M Uzunyan, L Vachon, J Johnson, T L Winder, S Yano.   

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Year:  2010        PMID： 20662858     DOI： 10.1111/j.1399-0004.2010.01385.x

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


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  5 in total

Review 1.  NADPH oxidase enzymes in skin fibrosis: molecular targets and therapeutic agents.

Authors:  Olubukola Babalola; Andrew Mamalis; Hadar Lev-Tov; Jared Jagdeo
Journal:  Arch Dermatol Res       Date:  2013-10-24       Impact factor: 3.017

2.  Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Authors:  Wafaa Sewairi; Abdulrahman Assiri; Nisha Patel; Amal Alhashem; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2016-01-06       Impact factor: 4.246

3.  LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Authors:  Alyssa Florwick; Tejas Dharmaraj; Julie Jurgens; David Valle; Katherine L Wilson
Journal:  Front Genet       Date:  2017-06-15       Impact factor: 4.599

4.  Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.

Authors:  Camille Samson; Ambre Petitalot; Florian Celli; Isaline Herrada; Virginie Ropars; Marie-Hélène Le Du; Naïma Nhiri; Eric Jacquet; Ana-Andrea Arteni; Brigitte Buendia; Sophie Zinn-Justin
Journal:  Nucleic Acids Res       Date:  2018-11-02       Impact factor: 16.971

5.  Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

Authors:  Tomás McKenna; Ylva Rosengardten; Nikenza Viceconte; Jean-Ha Baek; Diana Grochová; Maria Eriksson
Journal:  Aging Cell       Date:  2014-01-24       Impact factor: 9.304
  5 in total

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