Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion
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Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosisLoss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular AdhesionsCystatin a, a potential common link for mutant myocilin causative glaucomaWhole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesionLoss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.Expression profiling reveals genes involved in the regulation of wool follicle bulb regression and regeneration in sheep.Inherited ichthyoses/generalized Mendelian disorders of cornification.Cell-cell connectivity: desmosomes and disease.Genetic pathways in disorders of epidermal differentiation.Cysteine proteases: mode of action and role in epidermal differentiation.Cystatins in immune system.Proteases and proteomics: cutting to the core of human skin pathologies.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Fragility of epidermis and its consequence in dermatology.Discovery in genetic skin disease: the impact of high throughput genetic technologiesFragility of epidermis in newborns, children and adolescents.Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.Quantitative proteomic analysis of HIV-1 Tat-induced dysregulation in SH-SY5Y neuroblastoma cells.RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes.Structural and functional studies on a variant of cystatin purified from brain of Capra hircus.Novel TGM5 mutations in acral peeling skin syndrome.Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boyAcral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.Cystatin A suppresses tumor cell growth through inhibiting epithelial to mesenchymal transition in human lung cancer.Integration of Genome-Wide DNA Methylation and Transcription Uncovered Aberrant Methylation-Regulated Genes and Pathways in the Peripheral Blood Mononuclear Cells of Systemic Sclerosis
P2860
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P2860
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion
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2011 nî lūn-bûn
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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@ast
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en-gb
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@nl
type
label
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@ast
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en-gb
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@nl
prefLabel
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@ast
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en-gb
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@nl
P2093
P2860
P50
P1476
Mutations in CSTA, encoding Cy ...... nhibitor in cell-cell adhesion
@en
P2093
Alex Zvulunov
Daniela Nitoiu
Heiko Traupe
Ingrid Hausser
Judith Fischer
Katja-Martina Eckl
Philip Bland
Shefali Rajpopat
P2860
P304
P356
10.1016/J.AJHG.2011.09.001
P407
P577
2011-10-07T00:00:00Z