Literature DB >> 14627682

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

J J Shen, C A Brown, J R Lupski, L Potocki.   

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Year:  2003        PMID： 14627682      PMCID： PMC1735303          DOI： 10.1136/jmg.40.11.854

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


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  15 in total

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Authors:  Ryan T Nitta; Samantha A Jameson; Brian A Kudlow; Lindus A Conlan; Brian K Kennedy
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3.  A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.

Authors:  Mohammad Al-Haggar; Agnieszka Madej-Pilarczyk; Lukasz Kozlowski; Janusz M Bujnicki; Sohier Yahia; Dina Abdel-Hadi; Amany Shams; Nermin Ahmad; Sahar Hamed; Monika Puzianowska-Kuznicka
Journal:  Eur J Hum Genet       Date:  2012-05-02       Impact factor: 4.246

4.  Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.

Authors:  Anil K Agarwal; Irina Kazachkova; Svetlana Ten; Abhimanyu Garg
Journal:  J Clin Endocrinol Metab       Date:  2008-09-16       Impact factor: 5.958

5.  Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.

Authors:  Y Miyoshi; M Akagi; A K Agarwal; N Namba; K Kato-Nishimura; I Mohri; M Yamagata; S Nakajima; S Mushiake; M Shima; R J Auchus; M Taniike; A Garg; K Ozono
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6.  Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.

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7.  Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.

Authors:  Li Zhang; Hongrui Shen; Zhe Zhao; Qi Bing; Jing Hu
Journal:  Mol Med Rep       Date:  2015-07-08       Impact factor: 2.952

8.  Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

Authors:  Camilla Evangelisti; Pia Bernasconi; Paola Cavalcante; Cristina Cappelletti; Maria Rosaria D'Apice; Paolo Sbraccia; Giuseppe Novelli; Sabino Prencipe; Silvia Lemma; Nicola Baldini; Sofia Avnet; Stefano Squarzoni; Alberto M Martelli; Giovanna Lattanzi
Journal:  Oncotarget       Date:  2015-04-10

9.  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

10.  Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

Authors:  Di-Qing Luo; Xiao-Zhu Wang; Yan Meng; Ding-Yang He; Ying-Ming Chen; Zhi-Yong Ke; Ming Yan; Yu Huang; Da-Fang Chen
Journal:  BMC Pediatr       Date:  2014-10-07       Impact factor: 2.125
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