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NACHT, LRR and PYD domains-containing protein 1

The NLRP1 gene encodes a protein that is involved in apoptosis. Mutations cause autosomal dominant multiple self-healing palmoplantar carcinomata, recessive and dominant autoinflammation with arthritis and dyskeratosis, and susceptibility to vitiligo-associated multiple autoimmune disease 1.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autoinflammation with arthritis and dyskeratosis
NLRP1
Multiple self-healing palmoplantar carcinoma
NLRP1
Susceptibility to vitiligo-associated multiple autoimmune disease 1
NLRP1

References:

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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Update: Aug. 14, 2020
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