Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. - Wikidata - wikimedia - TriplyDB

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

http://www.wikidata.org/entity/Q37936391

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Kindlin-1 regulates integrin dynamics and adhesion turnover Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis.Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.Oxidative stress and mitochondrial dysfunction in Kindler syndrome.Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome Sporadic Kindler syndrome with a novel mutation.Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Hereditary epidermolysis bullosa.Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities.Renal-skin syndromes.Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.[New developments in hereditary blistering skin diseases].Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis.Structural basis of kindlin-mediated integrin recognition and activation.Kindlin-1 promotes pulmonary breast cancer metastasis.UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.Induction of senescence pathways in Kindler syndrome primary keratinocytes.Two novel mutations in KIND1 in Indian patients with Kindler syndrome.FERMT1 promoter mutations in patients with Kindler syndrome

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Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

http://www.wikidata.org/entity/Q37936391

description

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article scientifique

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articol științific

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articolo scientifico

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artigo científico

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artikel ilmiah

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Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

@en

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

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type

label

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

@en

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

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prefLabel

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

@en

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

@nl

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Kindler syndrome: extension of FERMT1 mutational spectrum and natural history

@en

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Cristina Has

http://www.w3.org/2001/XMLSchema#string

Daniele Castiglia

http://www.w3.org/2001/XMLSchema#string

Eugenia Piccinni

http://www.w3.org/2001/XMLSchema#string

Giovanna Zambruno

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Judith Fischer

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Jürgen Kohlhase

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Ludovic Martin

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Marcela del Rio

http://www.w3.org/2001/XMLSchema#string

Marta Garcia Diez

http://www.w3.org/2001/XMLSchema#string

Peter Itin

http://www.w3.org/2001/XMLSchema#string

P2860

Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome

Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects

The Structure of the N-Terminus of Kindlin-1: A Domain Important for αIIbβ3 Integrin Activation

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

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1204-1212

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scholarly article

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10.1002/HUMU.21576

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11

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32

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Leena Bruckner-Tuderman

Dimitra Kiritsi

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2011-09-20T00:00:00Z

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21936020

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