A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

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http://www.wikidata.org/entity/Q28182245

Q28182245

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The nuclear envelopathies and human diseases Molecular insights into the premature aging disease progeria When lamins go bad: nuclear structure and disease Overlapping syndromes in laminopathies: a meta-analysis of the reported literature Laminopathies and the long strange trip from basic cell biology to therapy Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells Chromosomal regions associated with prostate cancer risk localize to lamin B-deficient microdomains and exhibit reduced gene transcription."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.Genetic determinants of hepatic steatosis in man.Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment.Nanotopography alters nuclear protein expression, proliferation and differentiation of human mesenchymal stem/stromal cells The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.A-type lamins: guardians of the soma?Nuclear envelopathies--raising the nuclear veil.Genetics of Type 2 diabetes.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Guilt by association: the nuclear envelope proteome and disease.Mechanical model of blebbing in nuclear lamin meshworks.Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.Lipodystrophies: disorders of adipose tissue biology.Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches.Nuclear mechanics and mechanotransduction in health and disease.Atypical progeroid syndrome due to heterozygous missense LMNA mutations.The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.Tissue specificity in the nuclear envelope supports its functional complexity.Clinical and genetic heterogeneity in laminopathies.LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations.What the genetics of lipodystrophy can teach us about insulin resistance and diabetes.Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C.Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.

P2860

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P2860

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

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http://www.wikidata.org/entity/Q28182245

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