Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.

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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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Functional implications of nov ...... acropigmentation of Kitamura.

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Functional implications of nov ...... acropigmentation of Kitamura.

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Functional implications of nov ...... acropigmentation of Kitamura.

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Functional implications of nov ...... acropigmentation of Kitamura.

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Functional implications of nov ...... acropigmentation of Kitamura.

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Functional implications of nov ...... acropigmentation of Kitamura.

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P1476

Functional implications of nov ...... e acropigmentation of Kitamura

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P2093

D J Ralser

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F B Ünalan Basmanav

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G Fritz

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G G Lestringant

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H Thiele

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J Altmüller

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J Fischer

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J Frank

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P Kokordelis

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P Nürnberg

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P2860

The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling.

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

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e340-e343

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scholarly article

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10.1111/BJD.16024

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English

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177

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Aurélie Du-Thanh

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2017-11-29T00:00:00Z

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29192958

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reticulate acropigmentation of Kitamura