(Q35113398)

6 August 2017

1 reference

title

Phenotypes, genotypes and their contribution to understanding keratin function (English)

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6 August 2017

Rebecca M Porter

1

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author name string

E Birgitte Lane

series ordinal

2

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6 August 2017

1 May 2003

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6 August 2017

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6 August 2017

19

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6 August 2017

278-285

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6 August 2017

5

1 reference

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

7 January 2021

An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Clinical heterogeneity in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

7 January 2021

Changes in keratinocyte maturation during wound healing

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Delayed wound healing in keratin 6a knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosa

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mutation of a major keratin phosphorylation site predisposes to hepatotoxic injury in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Type II keratins are phosphorylated on a unique motif during stress and mitosis in tissues and cultured cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Lessons from keratin 18 knockout mice: formation of novel keratin filaments, secondary loss of keratin 7 and accumulation of liver-specific keratin 8-positive aggregates

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mid-gestational lethality in mice lacking keratin 8

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Targeted deletion of keratins 18 and 19 leads to trophoblast fragility and early embryonic lethality

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Cytokeratin 8 protects from hepatotoxicity, and its ratio to cytokeratin 18 determines the ability of hepatocytes to form Mallory bodies

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mutation of human keratin 18 in association with cryptogenic cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Keratin 8 mutations in patients with cryptogenic liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Keratin-dependent, epithelial resistance to tumor necrosis factor-induced apoptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Simple epithelium keratins 8 and 18 provide resistance to Fas-mediated apoptosis. The protection occurs through a receptor-targeting modulation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Characterization of Early Assembly Intermediates of Recombinant Human Keratins

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Pairwise assembly determines the intrinsic potential for self-organization and mechanical properties of keratin filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Ectopic synthesis of epidermal cytokeratins in pancreatic islet cells of transgenic mice interferes with cytoskeletal order and insulin production.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mouse keratin 4 is necessary for internal epithelial integrity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Ectopic expression of desmin in the epidermis of transgenic mice permits development of a normal epidermis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Cytokeratins 8 and 19 in the mouse placental development

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

7 January 2021

Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

The expression of keratin k10 in the basal layer of the epidermis inhibits cell proliferation and prevents skin tumorigenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Severe abnormalities in the oral mucosa induced by suprabasal expression of epidermal keratin K10 in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

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%2FS0168-9525%2803%2900071-4

7 January 2021

An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Directed expression of keratin 16 to the progenitor basal cells of transgenic mouse skin delays skin maturation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

The functional diversity of epidermal keratins revealed by the partial rescue of the keratin 14 null phenotype by keratin 16.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Keratin 17 null mice exhibit age- and strain-dependent alopecia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Functional differences between keratins of stratified and simple epithelia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

Keratin binding to 14-3-3 proteins modulates keratin filaments and hepatocyte mitotic progression

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900071-4

7 January 2021

10.1016/S0168-9525(03)00071-4

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12711220