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PDCD1 gene

The encodes a protein, programmed cell death protein 1, that is at several points involved in downregulation of immune responses. Genetic variantion are suspected to be involved in lupus erythematosus susceptibility type 2 and multiple sclerosis.

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:

multiple_sclerosis_disease_progression_modifier_of
PDCD1
systemic_lupus_erythematosus_susceptibility_to_2
PDCD1

References:

1.

Lázár-Molnár E et al. (2008) The PD-1/PD-L costimulatory pathway critically affects host resistance to the pathogenic fungus Histoplasma capsulatum.

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2.

Sugiura D et al. (2019) {'i': ['cis'], 'content': 'Restriction of PD-1 function by -PD-L1/CD80 interactions is required for optimal T cell responses.'}

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3.

Meng X et al. (2018) FBXO38 mediates PD-1 ubiquitination and regulates anti-tumour immunity of T cells.

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4.

Wartewig T et al. (2017) PD-1 is a haploinsufficient suppressor of T cell lymphomagenesis.

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5.

Le DT et al. (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.

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6.

Gordon SR et al. (2017) PD-1 expression by tumour-associated macrophages inhibits phagocytosis and tumour immunity.

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7.

George S et al. (2017) Loss of PTEN Is Associated with Resistance to Anti-PD-1 Checkpoint Blockade Therapy in Metastatic Uterine Leiomyosarcoma.

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8.

Sen DR et al. (2016) The epigenetic landscape of T cell exhaustion.

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9.

Pauken KE et al. (2016) Epigenetic stability of exhausted T cells limits durability of reinvigoration by PD-1 blockade.

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10.

Yang W et al. (2013) Increased expression of programmed death (PD)-1 and its ligand PD-L1 correlates with impaired cell-mediated immunity in high-risk human papillomavirus-related cervical intraepithelial neoplasia.

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11.

Kawamoto S et al. (2012) The inhibitory receptor PD-1 regulates IgA selection and bacterial composition in the gut.

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12.

Quigley M et al. (2010) Transcriptional analysis of HIV-specific CD8+ T cells shows that PD-1 inhibits T cell function by upregulating BATF.

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13.

Dai H et al. (2010) Cutting edge: programmed death-1 defines CD8+CD122+ T cells as regulatory versus memory T cells.

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14.

Said EA et. al. (2010) Programmed death-1-induced interleukin-10 production by monocytes impairs CD4+ T cell activation during HIV infection.

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15.

Day CL et al. (2006) PD-1 expression on HIV-specific T cells is associated with T-cell exhaustion and disease progression.

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16.

Barber DL et al. (2006) Restoring function in exhausted CD8 T cells during chronic viral infection.

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17.

Okazaki T et al. (2005) Hydronephrosis associated with antiurothelial and antinuclear autoantibodies in BALB/c-Fcgr2b-/-Pdcd1-/- mice.

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18.

Kroner A et al. (2005) A PD-1 polymorphism is associated with disease progression in multiple sclerosis.

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19.

Okazaki T et al. (2003) Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice.

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20.

Prokunina L et al. (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.

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21.

Latchman Y et al. (2001) PD-L2 is a second ligand for PD-1 and inhibits T cell activation.

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22.

Nishimura H et al. (2001) Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice.

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23.

Freeman GJ et al. (2000) Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation.

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24.

Finger LR et al. (1997) The human PD-1 gene: complete cDNA, genomic organization, and developmentally regulated expression in B cell progenitors.

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25.

Shinohara T et al. (1994) Structure and chromosomal localization of the human PD-1 gene (PDCD1).

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26.

Ishida Y et al. (1992) Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death.

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Update: Nov. 3, 2022
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