(Q44641885)

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Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

scientific article published in November 2003

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Europe PubMed Central

PubMed publication ID

4 December 2017

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription (English)

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Europe PubMed Central

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4 December 2017

familial partial lipodystrophy

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inferred from title

Cristina Capanni

1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Stefano Squarzoni

10

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Europe PubMed Central

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4 December 2017

Giovanna Lattanzi

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4 December 2017

Elisabetta Mattioli

object named as

Elisabetta Mattioli

3

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Vittoria Cenni

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Manfred Wehnert

8

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Manfred Wehnert

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4 December 2017

Nadir Mario Maraldi

9

object named as

Nadir M Maraldi

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4 December 2017

Veena K Parnaik

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Veena K Parnaik

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4 December 2017

Patrizia Sabatelli

4

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Patrizia Sabatelli

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4 December 2017

Marta Columbaro

6

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Marta Columbaro

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4 December 2017

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Andrea Ognibene

5

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4 December 2017

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publication date

1 November 2003

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4 December 2017

Experimental Cell Research

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4 December 2017

291

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4 December 2017

1

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4 December 2017

122-134

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PubMed publication ID

4 December 2017

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Molecular basis of partial lipodystrophy and prospects for therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

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7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Lamin a truncation in Hutchinson-Gilford progeria.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Expression of nuclear lamin A and muscle-specific proteins in differentiating muscle cells in ovo and in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Life at the edge: the nuclear envelope and human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Characterization of adiposity and metabolism in Lmna-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Interaction between emerin and nuclear lamins

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Review: nuclear lamins--structural proteins with fundamental functions

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Cell cycle-dependent regulation of the mouse DNA topoisomerase IIalpha gene promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

2 references

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The dynamics of a pre-mRNA splicing factor in living cells

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Structure of the globular tail of nuclear lamin

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The HIV protease inhibitor indinavir impairs sterol regulatory element-binding protein-1 intranuclear localization, inhibits preadipocyte differentiation, and induces insulin resistance

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

The nuclear envelope, muscular dystrophy and gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Lamins: building blocks or regulators of gene expression?

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0014-4827%2803%2900395-1

7 January 2021

Identifiers

10.1016/S0014-4827(03)00395-1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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