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Keratin gene mutations in disorders of human skin and its appendages

Archives of biochemistry and biophysics, 2011-04, Vol.508 (2), p.123-137

2011

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A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes

Journal of investigative dermatology, 2001-06, Vol.116 (6), p.964-969

2001

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A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype

Experimental dermatology, 2004-05, Vol.13 (5), p.332-334

2004

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Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases

Gene therapy, 2004-08, Vol.11 (16), p.1290-1295

2004

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Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma

Clinical genetics, 2004-05, Vol.65 (5), p.405-411

2004

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Detection of keratin filaments and aggregates in HeLa cells transfected with fluorescently tagged keratin 1 and 10 using a high content imaging assay

Journal of investigative dermatology, 2013, Vol.133, p.S130

2013

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Death receptor signaling and DNA damage response mechanisms are altered in EBS Dowling-Meara keratinocytes

Journal of investigative dermatology, 2012, Vol.132 (S2), p.S101

2012

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An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

Journal of investigative dermatology, 2004-03, Vol.122 (3), p.652-657

2004

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CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation

Journal of endocrinological investigation, 1997-04, Vol.20 (4), p.189-193

1997

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Observation of keratin particles showing fast bidirectional movement colocalized with microtubules

Journal of cell science, 2003-04, Vol.116 (Pt 8), p.1417-1427

2003

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In vitro splicing assay detects exon 4 deletion in an epidermolysis bullosa simplex patient with a heterozygous splice site mutation (IVS4:912+1G [arrow right] A) in KRT14

British journal of dermatology (1951), 2004-04, Vol.150 (4), p.819

2004

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Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra

Pflügers Archiv, 2000, Vol.439 (3 Suppl), p.R63-R65

2000

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K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

Human heredity, 2000-07, Vol.50 (4), p.234-236

2000

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New steroid 5Α-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8

Pflügers Archiv, 2001-01, Vol.442 (7), p.r187-r189

2001

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Novel K5 and K14 mutations in three families with epidermolysis bullosa simplex

Journal of dermatological science, 1998-03, Vol.16, p.S146-S146

1998

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Abstracts

Pflügers Archiv, 2000-07, Vol.439 (7), p.R68

2000

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New steroid 5alpha-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8

Pflügers Archiv, 2001, Vol.442 (6 Suppl 1), p.R187-R189

2001

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Cortical stiffness of keratinocytes measured by lateral indentation with optical tweezers

PloS one, 2020-12, Vol.15 (12), p.e0231606

2020

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Abstracts

Pflügers Archiv, 2000-07, Vol.439 (S1), p.r68-r71

2000

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Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease

PloS one, 2014-06, Vol.9 (6), p.e99398-e99398

2014

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A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes

PloS one, 2021-12, Vol.16 (12), p.e0261227-e0261227

2021

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Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A

Stem cell research, 2019-08, Vol.39, p.101527-101527, Article 101527

2019

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Preface to special issue of selected papers from the Eleventh International Conference on CFD in the Minerals and Process Industries (CFD2015)

Chemical engineering science, 2017-09, Vol.169, p.187-187

2017

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Ninein is released from the centrosome and moves bi-directionally along microtubules

Journal of cell science, 2007-09, Vol.120 (17), p.3064-3074

2007

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Preface to special issue of selected papers from the Eleventh International Conference on CFD in the Minerals and Process Industries (CFD2015)

Applied Mathematical Modelling, 2017-04, Vol.44, p.1-2

2017

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Keratin gene mutations in disorders of human skin and its appendages

A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes

A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases

Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma

Detection of keratin filaments and aggregates in HeLa cells transfected with fluorescently tagged keratin 1 and 10 using a high content imaging assay

Death receptor signaling and DNA damage response mechanisms are altered in EBS Dowling-Meara keratinocytes

An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation

Observation of keratin particles showing fast bidirectional movement colocalized with microtubules

In vitro splicing assay detects exon 4 deletion in an epidermolysis bullosa simplex patient with a heterozygous splice site mutation (IVS4:912+1G [arrow right] A) in KRT14

Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra

K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

New steroid 5Α-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8

Novel K5 and K14 mutations in three families with epidermolysis bullosa simplex

Abstracts

New steroid 5alpha-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8

Cortical stiffness of keratinocytes measured by lateral indentation with optical tweezers

Abstracts

Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease

A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes

Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A

Preface to special issue of selected papers from the Eleventh International Conference on CFD in the Minerals and Process Industries (CFD2015)

Ninein is released from the centrosome and moves bi-directionally along microtubules

Preface to special issue of selected papers from the Eleventh International Conference on CFD in the Minerals and Process Industries (CFD2015)

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