(Q34144242)

31 July 2017

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title

GFAP mutations in Alexander disease (English)

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31 July 2017

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Rong Li

1

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31 July 2017

Albee Messing

series ordinal

2

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31 July 2017

James E Goldman

series ordinal

3

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31 July 2017

Michael Brenner

series ordinal

4

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31 July 2017

publication date

1 June 2002

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International Journal of Developmental Neuroscience

31 July 2017

published in

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31 July 2017

volume

20

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31 July 2017

issue

3-5

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31 July 2017

page(s)

259-268

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A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

31 July 2017

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An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis

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7 January 2021

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

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7 January 2021

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

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7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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7 January 2021

Characterization of human cDNA and genomic clones for glial fibrillary acidic protein.

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7 January 2021

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

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7 January 2021

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

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7 January 2021

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

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7 January 2021

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

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7 January 2021

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

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7 January 2021

Mice lacking vimentin develop and reproduce without an obvious phenotype

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7 January 2021

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

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7 January 2021

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

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7 January 2021

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

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7 January 2021

Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes

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7 January 2021

A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma

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7 January 2021

The cytoskeleton and disease: genetic disorders of intermediate filaments

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7 January 2021

A structural scaffolding of intermediate filaments in health and disease

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7 January 2021

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

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7 January 2021

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

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7 January 2021

Impaired flow-induced dilation in mesenteric resistance arteries from mice lacking vimentin

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7 January 2021

Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

GFAP is necessary for the integrity of CNS white matter architecture and long-term maintenance of myelination

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A 'hot-spot' mutation alters the mechanical properties of keratin filament networks

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Targeted deletion in astrocyte intermediate filament (Gfap) alters neuronal physiology

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

The roles of the rod end and the tail in vimentin IF assembly and IF network formation

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Residues in the 1A rod domain segment and the linker L2 are required for stabilizing the A11 molecular alignment mode in keratin intermediate filaments

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Alexander disease: new insights from genetics

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Mouse keratin 4 is necessary for internal epithelial integrity

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7 January 2021

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Autosomal dominant palatal myoclonus and spinal cord atrophy

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7 January 2021

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Intermediate filaments: molecular architecture, assembly, dynamics and polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A functional "knockout" of human keratin 14

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Alexander's disease in an adult. Report of a case

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Deficient cerebellar long-term depression, impaired eyeblink conditioning, and normal motor coordination in GFAP mutant mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Novel keratin 17 mutations in pachyonychia congenita type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

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%2FS0736-5748%2802%2900019-9

7 January 2021

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel mutation in the keratin 13 gene causing oral white sponge nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Reduction of renal mass is lethal in mice lacking vimentin. Role of endothelin-nitric oxide imbalance

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900019-9

7 January 2021

10.1016/S0736-5748(02)00019-9

Identifiers

DOI

1 reference

31 July 2017

1 reference