J Young, L Morbois-Trabut, B Couzinet, O … - Diabetes, 2005 - Am Diabetes Assoc Particular forms of polycystic ovary syndrome with severe hyperandrogenism,
acanthosis nigricans, and marked insulin resistance, defining the type A insulin
resistance syndrome, are due to insulin receptor gene mutations. However, ... Cited by 33 - Related articles - All 5 versions
- ►endojournals.org MC Vantyghem, P Pigny, CA Maurage, N Rouaix … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous,
including neuromuscular and cardiac dystrophies, lipodystrophies, and premature
ageing syndromes. In this study we characterized the neuromuscular and ... Cited by 46 - Related articles - BL Direct - All 4 versions
- ►bmj.com S Benedetti, E Bertini, S Iannaccone, C … - British Medical Journal, 2005 - jnnp.bmj.com The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome
is rarely ascribed to a single gene. Defects in the nuclear envelope protein
lamin A/C, encoded by the LMNA gene, have been shown to be associated with ... Cited by 31 - Related articles - All 9 versions
A D'Amico, G Haliloglu, P Richard, B Talim, S … - Neuromuscular Disorders, 2005 - Elsevier Prominent neck extension weakness is an uncommon clinical entity, also termed
'Dropped head syndrome', that may be part of a generalized neuromuscular
disorder such as myasthenia gravis, polymyositis, amyotrophic lateral ... Cited by 18 - Related articles - All 10 versions
- ►endojournals.org F Caux, E Dubosclard, O Lascols, B Buendia, … - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc A-Type lamins, arising from the LMNA gene, are intermediate filaments proteins
that belong to the lamina, a ubiquitous nuclear network. Naturally occurring
mutations in these proteins have been shown to be responsible for several ... Cited by 87 - Related articles - BL Direct - All 5 versions
- ►endojournals.org H Van Esch, AK Agarwal, P Debeer, JP Fryns, … - Journal of Clinical Endocrinology & Metabolism, 2006 - Endocrine Soc Context: Mutations in the lamin A/C (LMNA) gene have been reported in a wide
variety of disorders, including lipodystrophies, cardiomyopathy, muscular
dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, ... Cited by 14 - Related articles - All 6 versions
G Bonne, N Levy - The Lancet, 2003 - Elsevier The LMNA R133L mutation, which is caused by a 398G→T substitution—according
to international nomenclature—and not a 813G→T substitution—as noted by
the authors—has been previously described by Caux and colleagues; as ... Cited by 22 - Related articles - All 2 versions
P Arora, B Muralikrishna, VK Parnaik - FEBS letters, 2004 - Elsevier Lamins A, C and C2 are alternatively spliced products of the LMNA gene; lamins A
and C are expressed in differentiated somatic cells, whereas lamin C2 is
expressed in germ cells. We have analyzed a segment of the first intron of ... Cited by 9 - Related articles - All 7 versions
- ►bmj.com C Goizet, R Ben Yaou, L Demay, P Richard, S … - British Medical Journal, 2004 - jmg.bmj.com The LMNA gene encodes two nuclear envelope proteins, lamins A and C, derived
from alternative splicing. First identified in autosomal dominant Emery-Dreifuss
muscular dystrophy (AD-EDMD), 1 mutations in this gene are implicated in up ... Cited by 48 - Related articles - BL Direct - All 7 versions
- ►oxfordjournals.org C Capanni, E Mattioli, M Columbaro, E … - Human Molecular Genetics, 2005 - Oxford Univ Press Lipodystrophies are a heterogeneous group of human disorders characterized by
the anomalous distribution of body fat associated with insulin resistance and
altered lipid metabolism. The pathogenetic mechanism of inherited ... Cited by 66 - Related articles - All 8 versions
