Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

PDCD1-Gen

Das PDCD1-Gen kodiert eine Protein, welches in die Apoptose und andere immunmodulatorische Prozesse von Lymphozyten eingebunden ist. Genetische Variationen werden als Ursache eine Anfälligkeit für Lupus erythematodes 2 und multiple Sklerose angenommen.

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:

multiple_sclerosis_disease_progression_modifier_of
PDCD1
Suszeptibilität für systemischen Lupus erythematodes 02
PDCD1

Referenzen:

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: 3. November 2022
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