Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease (Q34135932)

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scientific article published on January 1, 2010

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English	Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease	scientific article published on January 1, 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease (English)

1 reference

10.1016/S0091-679X(10)98014-X

https://api.crossref.org/works/10.1016/S0091-679X(10)98014-X

6 July 2024

author name string

Quasar Saleem Padiath

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Ying-Hui Fu

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20816241

6 July 2024

publication date

1 January 2010

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

https://api.elsevier.com/content/article/PII:S0091679X1098014X?httpAccept=text/xml

1 reference

10.1016/S0091-679X(10)98014-X

https://api.crossref.org/works/10.1016/S0091-679X(10)98014-X

6 July 2024

https://api.elsevier.com/content/article/PII:S0091679X1098014X?httpAccept=text/plain

1 reference

10.1016/S0091-679X(10)98014-X

https://api.crossref.org/works/10.1016/S0091-679X(10)98014-X

6 July 2024

Methods in Cell Biology

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

98

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

337-357

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

The nuclear lamina is a meshwork of intermediate-type filaments

1 reference

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7 January 2021

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The mystery and magic of glia: a perspective on their roles in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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Axonal control of oligodendrocyte development

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset leukodystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

MLC1: a novel protein in distal astroglial processes

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The farnesylated nuclear proteins KUGELKERN and LAMIN B promote aging-like phenotypes in Drosophila flies

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear lamins: laminopathies and their role in premature ageing.

1 reference

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7 January 2021

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Mutations in the lamin B1 gene are not present in multiple sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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The laminopathies: the functional architecture of the nucleus and its contribution to disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Functions of the nuclear envelope and lamina in development and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Leukodystrophies: classification, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The nuclear envelope as a signaling node in development and disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers

1 reference

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7 January 2021

based on heuristic

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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

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cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

GFAP and nuclear lamins share an epitope recognized by monoclonal antibody J1-31.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional organization of the nuclear envelope

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear lamins: building blocks of nuclear architecture

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Age-related changes of nuclear architecture in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical associations of anti-lamin autoantibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural organization of the human gene (LMNB1) encoding nuclear lamin B1

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of nuclear lamins in human tissues and cancer cell lines and transcription from the promoters of the lamin A/C and B1 genes

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Leukodystrophies: clinical and genetic aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects in lamin B1 expression or processing affect interphase chromosome position and gene expression

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Lamin B1 controls oxidative stress responses via Oct-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

1 reference

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Alexander disease: new insights from genetics

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Alexander disease: putative mechanisms of an astrocytic encephalopathy

1 reference

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Cell surface expression of intermediate filament proteins vimentin and lamin B1 in human neutrophil spontaneous apoptosis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear organization in differentiating oligodendrocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Lamin B1 duplications cause autosomal dominant leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of nuclear lamins in nuclear organization, cellular signaling, and inherited diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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Cloning and sequencing of cDNA clones encoding chicken lamins A and B1 and comparison of the primary structures of vertebrate A- and B-type lamins

1 reference

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7 January 2021

based on heuristic

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Lamin A-dependent nuclear defects in human aging

1 reference

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7 January 2021

based on heuristic

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The latest on leukodystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2810%2998014-X

7 January 2021

based on heuristic

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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy

1 reference

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1 reference

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1 reference

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based on heuristic

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The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription

1 reference

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7 January 2021

based on heuristic

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Nuclear lamins: their structure, assembly, and interactions

1 reference

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7 January 2021

based on heuristic

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1 reference

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

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7 January 2021

based on heuristic

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1 reference

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7 January 2021

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1 reference

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7 January 2021

based on heuristic

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1 reference

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7 January 2021

based on heuristic

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1 reference

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7 January 2021

based on heuristic

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2

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49

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Identifiers

10.1016/S0091-679X(10)98014-X

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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