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

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A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.A path through the reticulate pigmentation disorder jungle.Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.

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

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2017 nî lūn-bûn

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Mutations in γ-secretase subun ...... associated with acne inversa.

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Mutations in γ-secretase subun ...... associated with acne inversa.

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Mutations in γ-secretase subun ...... associated with acne inversa.

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P1476

Mutations in γ-secretase subun ...... associated with acne inversa.

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Aylar Tafazzoli

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Benjamin Odermatt

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Damian J Ralser

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F Buket Ü Basmanav

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Holger Thiele

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Jade Wititsuwannakul

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Janine Altmüller

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Jorge Frank

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Jörg Wenzel

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Michélle Busch

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Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

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

The etiology and molecular genetics of human pigmentation disorders

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

gamma-secretases: from cell biology to therapeutic strategies.

Clinical practice. Hidradenitis suppurativa.

Length and overall sequence of the PEN-2 C-terminal domain determines its function in the stabilization of presenilin fragments.

Melanoblasts' proper location and timed differentiation depend on Notch/RBP-J signaling in postnatal hair follicles.

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

Acanthosis Nigricans.

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scholarly article

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10.1172/JCI90667

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English

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127

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Peter Nürnberg

Didier Lacombe

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2017-03-13T00:00:00Z

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

about

P2860

P2860

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

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

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P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932