Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy - sprookjes - yvandenbroek - TriplyDB

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

http://www.wikidata.org/entity/Q24678764

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Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin When lamins go bad: nuclear structure and disease Laminopathies and the long strange trip from basic cell biology to therapy Lamin B1 duplications cause autosomal dominant leukodystrophy Is LMNB1 a susceptibility gene for neural tube defects in humans?Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging.Novel association of APC with intermediate filaments identified using a new versatile APC antibody Diseases of the nuclear envelope.The Caenorhabditis elegans SUN protein UNC-84 interacts with lamin to transfer forces from the cytoplasm to the nucleoskeleton during nuclear migration.The lamin protein family."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.LINCing lamin B2 to neuronal migration: growing evidence for cell-specific roles of B-type lamins.Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.Role of the nuclear envelope in genome organization and gene expression.Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin Lipodystrophy: pathophysiology and advances in treatment Nuclear lamins: key regulators of nuclear structure and activities The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.Mouse models of the laminopathies.Barraquer-Simons syndrome: a rare form of acquired lipodystrophy.Nuclear mechanics in disease Mechanics of the nucleus.BioID Identification of Lamin-Associated Proteins.Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report.Till disassembly do us part: a happy marriage of nuclear envelope and chromatin.Muscle development, regeneration and laminopathies: how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease.The B-type lamin is required for somatic repression of testis-specific gene clusters 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."IF-pathies": a broad spectrum of intermediate filament-associated diseases.Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.Nuclear mechanics and mechanotransduction in health and disease.Laminopathies: the molecular background of the disease and the prospects for its treatment.Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins.Partners and post-translational modifications of nuclear lamins What the genetics of lipodystrophy can teach us about insulin resistance and diabetes.Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.B-type lamins in health and disease.

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P2860

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

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2006 nî lūn-bûn

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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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American Journal of Human Genetics

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Sequencing of the reannotated ...... acquired partial lipodystrophy

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Dora M Liu

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Gary A Costain

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Henian Cao

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N Wilson Rodger

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Paul N Durrington

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P2860

Lamin B1 is required for mouse development and nuclear integrity

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase.

A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease.

Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature.

Acquired and inherited lipodystrophies.

Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature.

Fine mapping of a replication origin of human DNA.

Phenomics, lipodystrophy, and the metabolic syndrome.

Intermediate filament proteins and their associated diseases.

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10.1086/505885

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Valentine Charlton-Menys

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