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Scholar Results 1 - 10 of about 33 citing Young: Type A insulin resistance syndrome revealing a novel lamin A mutation. (0.09 sec) 

Nuclear lamins: laminopathies and their role in premature ageing

- physiology.org
JLV Broers, FCS Ramaekers, G Bonne, RB … - Physiological …, 2006 - Am Physiological Soc
It has been demonstrated that nuclear lamins are important proteins in maintaining cellular as well
as nuclear integrity, and in maintaining chromatin organization in the nucleus. Moreover, there is
growing evidence that lamins play a ...
Cited by 132 - Related articles - BL Direct - All 7 versions

“Laminopathies”: A wide spectrum of human diseases


HJ Worman, G Bonne - Experimental cell research, 2007 - Elsevier
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a
wide spectrum of diseases sometimes called “laminopathies.” Diseases caused by mutations in LMNA
encoding A-type lamins include ...
Cited by 93 - Related articles - All 5 versions

The laminopathies: a clinical review.


J Rankin, S aEllard - Clinical genetics, 2006 - pt.wkhealth.com
The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene
(MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an
alternative splice site in exon 10. ...
Cited by 48 - Related articles - All 5 versions

Laminopathies: multisystem dystrophy syndromes


KN Jacob, A Garg - Molecular Genetics and Metabolism, 2006 - Elsevier
Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type A lamins
and can manifest varied clinical features affecting many organs including the skeletal and cardiac
muscle, adipose tissue, nervous ...
Cited by 46 - Related articles - All 3 versions

Diseases of adipose tissue: genetic and acquired lipodystrophies


J Capeau, J Magr, O Lascols, M Caron, V … - Biochemical Society …, 2005 - bst.portlandpress.com
Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or
repartition and major metabolic alterations with insulin resistance leading to diabetic
complications and increased ...
Cited by 32 - Related articles - Cached - BL Direct - All 9 versions

New metabolic phenotypes in laminopathies: LMNA mutations in patients with …

- endojournals.org
A Decaudain, MC Vantyghem, B Guerci, AC … - Journal of Clinical …, 2007 - Endocrine Soc
Results: LMNA mutations found in nine patients studied here affected the three protein domains.
Eight of them were novel. The 10 patients with non-codon 482-associated mutations fulfilled the
International Diabetes Federation ...
Cited by 12 - Related articles - BL Direct - All 3 versions

Differentiation of C2C12 myoblasts expressing lamin A mutated at a site …


C Favreau, E Delbarre, JC Courvalin, B Buendia - Experimental Cell Research, 2008 - Elsevier
Mutation R453W in A-type lamins, that are major nuclear envelope proteins, generates
Emery–Dreifuss muscular dystrophy. We previously showed that mouse myoblasts expressing
R453W-lamin A incompletely exit the ...
Cited by 11 - Related articles - All 4 versions

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene …


J Rankin, M Auer-Grumbach, W Bagg, K … - American journal of …, 2008 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to display style sheets. In
this case, although the visual presentation will be degraded, the site should continue to be
functional. We recommend using the ...
Cited by 8 - Related articles - BL Direct - All 2 versions

Fertility and obstetrical complications in women with LMNA-related familial partial …

- endojournals.org
MC Vantyghem, D Vincent-Desplanques, F … - Journal of Clinical …, 2008 - Endocrine Soc
Objective: Familial partial lipodystrophy due to LMNA (lamin A/C) mutations is a rare disorder
characterized by a selective loss of adipose tissue and insulin resistance. Dyslipidemia and severe
diabetes often occur during its ...
Cited by 5 - Related articles - BL Direct - All 5 versions

[PDF] A pathogenic mechanism leading to partial lipodistrophy and prospects for …


NM Maraldi, C Capanni, E Mattioli, M Columbaro, S … - Acta Biomed, 2007 - ccmb.res.in
Insulin resistance syndrome or metabolic syndro- me is a disorder frequently occurring in
individuals with android obesity associated with a cluster of me- tabolic abnormalities, including
glucose intolerance, dyslipidemia, ...
Cited by 5 - Related articles - View as HTML - All 3 versions


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