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Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)

Das PASH-Syndrom ist eine autosomal dominante Hauterkrankung, die durch Mutationen im NCSTN-Gen ausgelöst wird. Zu dem Syndrom gehören Pyoderma gangraenosum, Acne und Hidradenitis suppurativa.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Dyschromatosis symmetrica hereditaria
Ektodermale Dysplasie mit Immundefekt
Epidermolysis bullosa
Familiäre Acne inversa 1
Griscelli-Syndrom Typ 2
Hermansky-Pudlak-Syndrome 2
Incontinentia pigmenti
Interleukin 36-Rezeptor-Antagonist-Mangel
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Neonatale enzündliche Haut- und Darmerkrankung Typ 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Psoriasis
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
NCSTN
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom

Referenzen:

1.

Orlacchio A et. al. (2002) Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

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2.

Join-Lambert O et. al. (2015) Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients.

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3.

Niv D et. al. (2017) Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome with recurrent vasculitis.

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4.

Marzano AV et. al. (2016) Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.

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5.

Marzano AV et. al. (2014) Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

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6.

Lu P et. al. (2014) Three-dimensional structure of human γ-secretase.

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7.

Pink AE et. al. (2011) PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

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8.

Wang B et. al. (2010) Gamma-secretase gene mutations in familial acne inversa.

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9.

Kaether C et. al. (2004) The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity.

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10.

Helisalmi S et. al. (2004) Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.

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11.

FELDMAN RG et. al. (1963) FAMILIAL ALZHEIMER'S DISEASE.

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12.

Pasternak SH et. al. (2003) Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.

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13.

Foncin JF et. al. (1985) [Alzheimer's presenile dementia transmitted in an extended kindred].

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14.

Rozmahel R et. al. (2002) Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.

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15.

Lee SF et. al. (2002) Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.

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16.

Steiner H et. al. (2002) PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.

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17.

Dermaut B et. al. (2002) The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

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18.

Kopan R et. al. (2002) Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization.

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19.

Goutte C et. al. (2002) APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos.

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20.

Hiltunen M et. al. (2001) Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.

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21.

Yu G et. al. (2000) Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.

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22.

Kehoe P et. al. (1999) A full genome scan for late onset Alzheimer's disease.

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23.

Zubenko GS et. al. (1998) A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

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Update: 14. August 2020
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