Literature DB >> 13129702

The strange case of the "lumper" lamin A/C gene and human premature ageing.

Giuseppe Novelli1, Maria Rosaria D'Apice.   

Abstract

Gary Rosenberg said of conchologists that they "are often characterized as lumpers or splitters. From one perspective, splitters recognize more species than really exist, and lumpers go around fixing the resulting damage." The recent explosion in the number of identified mutations within the LMNA gene, which encodes two protein products lamins A and C, has allowed the identification of an allelic series of disorders, all caused by mutations within this one gene. Hence, LMNA might be thought of as a "lumper" gene. These results have initiated analysis of the relationship between disease phenotype and gene, and have led to dramatic advances in our knowledge of the dynamic and complex organization of the nuclear architecture.

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Year:  2003        PMID: 13129702     DOI: 10.1016/s1471-4914(03)00162-x

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  11 in total

Review 1.  Protein farnesylation and disease.

Authors:  Giuseppe Novelli; Maria Rosaria D'Apice
Journal:  J Inherit Metab Dis       Date:  2012-02-04       Impact factor: 4.982

2.  Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest.

Authors:  Ryan T Nitta; Samantha A Jameson; Brian A Kudlow; Lindus A Conlan; Brian K Kennedy
Journal:  Mol Cell Biol       Date:  2006-07       Impact factor: 4.272

Review 3.  Nuclear mechanics and mechanotransduction in health and disease.

Authors:  Philipp Isermann; Jan Lammerding
Journal:  Curr Biol       Date:  2013-12-16       Impact factor: 10.834

4.  Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Authors:  Sabine Rudnik-Schöneborn; Elke Botzenhart; Thomas Eggermann; Jan Senderek; Benedikt G H Schoser; Rolf Schröder; Manfred Wehnert; Brunhilde Wirth; Klaus Zerres
Journal:  Neurogenetics       Date:  2006-11-29       Impact factor: 2.660

5.  Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

Authors:  V Cenni; P Sabatelli; E Mattioli; S Marmiroli; C Capanni; A Ognibene; S Squarzoni; N M Maraldi; G Bonne; M Columbaro; L Merlini; G Lattanzi
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

6.  Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays.

Authors:  Francesca Amati; Michela Biancolella; Maria Rosaria D'Apice; Stefano Gambardella; Ruggiero Mango; Paolo Sbraccia; Monica D'Adamo; Katia Margiotti; Annamaria Nardone; Marc Lewis; Giuseppe Novelli
Journal:  Gene Expr       Date:  2004

7.  A Role of Lamin A/C in Preventing Neuromuscular Junction Decline in Mice.

Authors:  Nannan Gao; Kai Zhao; Yu Cao; Xiao Ren; Hongyang Jing; Guanglin Xing; Wen-Cheng Xiong; Lin Mei
Journal:  J Neurosci       Date:  2020-08-17       Impact factor: 6.167

8.  Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Authors:  F Kortüm; M Chyrek; S Fuchs; B Albrecht; G Gillessen-Kaesbach; U Mütze; E Seemanova; S Tinschert; D Wieczorek; G Rosenberger; K Kutsche
Journal:  Mol Syndromol       Date:  2011-11-12

Review 9.  Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

Authors:  Kristien Peeters; Teodora Chamova; Albena Jordanova
Journal:  Brain       Date:  2014-06-25       Impact factor: 13.501

10.  Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.

Authors:  Xin-Fu Lin; Jie-Wei Luo; Gui Liu; Yao-Bin Zhu; Zhao Jin; Xing Lin
Journal:  Mol Med Rep       Date:  2018-09-05       Impact factor: 2.952

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