Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

NACHT-, LRR- und PYD-Domain-enthaltendes Protein 1

Das vom NLRP1-Gen kodierte Protein besitzt eine Bedeutung bei der Steuerung der Apoptose. Mutationen führen zu autosomal dominanten multiplen selbsheilenden palmoplantaren Karzinomen, zur dominaten und rezessiven Autoinflammation mit Arthritis und Dyskeratose und zu der Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autoinflammation mit Arthritis und Dyskeratose
NLRP1
Multiple selbsheilende palmoplantare Karzinome
NLRP1
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
NLRP1

Referenzen:

1.

Guarda G et al. (2009) T cells dampen innate immune responses through inhibition of NLRP1 and NLRP3 inflammasomes.

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2.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Hlaing T et al. (2001) Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins.

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4.

Martinon F et al. (2001) The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation.

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5.

Hamatani T et al. (2004) Age-associated alteration of gene expression patterns in mouse oocytes.

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6.

Girard C et al. () Vitamin a deficiency phrynoderma associated with chronic giardiasis.

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7.

Faustin B et al. (2007) Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation.

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8.

Jin Y et. al. (2007) NALP1 in vitiligo-associated multiple autoimmune disease.

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9.

Gregory SM et al. (2011) Discovery of a viral NLR homolog that inhibits the inflammasome.

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10.

Vasseur E et al. (2012) The evolutionary landscape of cytosolic microbial sensors in humans.

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11.

Masters SL et al. (2012) NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells.

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12.

Soler VJ et. al. (2013) Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

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13.

Mama et. al. (2015) Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

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14.

Zhong FL et. al. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

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15.

Grandemange S et al. (2017) A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (associated autoinflammation with arthritis and dyskeratosis).

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16.
Update: 9. Mai 2019