PubMed:20854438 JSON TXT

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PubTator4TogoVar

{"project":"PubTator4TogoVar","denotations":[{"id":"20854438_0","span":{"begin":1182,"end":1231},"obj":"ProteinMutation"},{"id":"20854438_1","span":{"begin":1233,"end":1237},"obj":"ProteinMutation"},{"id":"20854438_2","span":{"begin":1496,"end":1500},"obj":"ProteinMutation"},{"id":"20854438_3","span":{"begin":1688,"end":1692},"obj":"ProteinMutation"}],"attributes":[{"id":"20854438_0_ProteinMutation","pred":"proteinmutation","subj":"20854438_0","obj":"rs28937888"},{"id":"20854438_1_ProteinMutation","pred":"proteinmutation","subj":"20854438_1","obj":"rs28937888"},{"id":"20854438_2_ProteinMutation","pred":"proteinmutation","subj":"20854438_2","obj":"rs28937888"},{"id":"20854438_3_ProteinMutation","pred":"proteinmutation","subj":"20854438_3","obj":"rs28937888"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-entities-OrganismTaxon-PD

{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T1","span":{"begin":1002,"end":1007},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":1606,"end":1611},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"NCBItxid:9606"},{"id":"A2","pred":"db_id","subj":"T2","obj":"NCBItxid:9606"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-sentences

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":74},"obj":"Sentence"},{"id":"T2","span":{"begin":75,"end":86},"obj":"Sentence"},{"id":"T3","span":{"begin":87,"end":326},"obj":"Sentence"},{"id":"T4","span":{"begin":327,"end":447},"obj":"Sentence"},{"id":"T5","span":{"begin":448,"end":560},"obj":"Sentence"},{"id":"T6","span":{"begin":561,"end":809},"obj":"Sentence"},{"id":"T7","span":{"begin":810,"end":821},"obj":"Sentence"},{"id":"T8","span":{"begin":822,"end":935},"obj":"Sentence"},{"id":"T9","span":{"begin":936,"end":992},"obj":"Sentence"},{"id":"T10","span":{"begin":993,"end":1001},"obj":"Sentence"},{"id":"T11","span":{"begin":1002,"end":1262},"obj":"Sentence"},{"id":"T12","span":{"begin":1263,"end":1435},"obj":"Sentence"},{"id":"T13","span":{"begin":1436,"end":1542},"obj":"Sentence"},{"id":"T14","span":{"begin":1543,"end":1628},"obj":"Sentence"},{"id":"T15","span":{"begin":1629,"end":1641},"obj":"Sentence"},{"id":"T16","span":{"begin":1642,"end":1741},"obj":"Sentence"},{"id":"T17","span":{"begin":1742,"end":1818},"obj":"Sentence"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-entities

LitCoin_Mondo

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":60,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":123,"end":141},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":170,"end":181},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":683,"end":691},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009552"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0009552"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019270"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0021152"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0005105"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-SeqVar

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":1233,"end":1237},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":1496,"end":1500},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":1688,"end":1692},"obj":"SequenceVariant"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-GeneOrGeneProduct-v0

LitCoin-GeneOrGeneProduct-v2

LitCoin-Disease-MeSH

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":60,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":102,"end":105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":683,"end":691},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":696,"end":711},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":931,"end":934},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1082,"end":1085},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1656,"end":1659},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D007645"},{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D014777"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D007645"},{"id":"A8","pred":"originalLabel","subj":"T8","obj":"D007645"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D007645"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D007645"},{"id":"A7","pred":"originalLabel","subj":"T7","obj":"D007645"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D008545"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-GeneOrGeneProduct-v3

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":0,"end":6},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":60,"end":63},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":87,"end":90},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":231,"end":238},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":240,"end":258},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":261,"end":306},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":315,"end":324},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":327,"end":334},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":367,"end":399},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":401,"end":406},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":492,"end":497},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":616,"end":622},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":644,"end":659},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":860,"end":866},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":949,"end":956},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":1150,"end":1156},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":1246,"end":1253},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":1344,"end":1348},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":1488,"end":1495},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":1612,"end":1619},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":1680,"end":1687},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":1768,"end":1775},"obj":"GeneOrGeneProduct"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin_Mondo_095

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":60,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":102,"end":105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":123,"end":141},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":644,"end":647},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":683,"end":691},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":696,"end":711},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":931,"end":934},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1082,"end":1085},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1656,"end":1659},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0005105"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0005108"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0009552"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0009552"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0009552"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009552"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0009552"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0019270"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0014648"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0009552"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-MeSH-Disease-2

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":60,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":102,"end":105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":110,"end":141},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":683,"end":691},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":696,"end":711},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":931,"end":934},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1082,"end":1085},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1656,"end":1659},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A4","pred":"ID:","subj":"T4","obj":"DISEASE"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D014777"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D007645"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D007645"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D007645"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D008545"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D007645"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D007645"},{"id":"A9","pred":"ID:","subj":"T9","obj":"D007645"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-MONDO_bioort2019

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":60,"end":73},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":87,"end":100},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":102,"end":105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":110,"end":141},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":683,"end":691},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":696,"end":711},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":931,"end":934},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1082,"end":1085},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1656,"end":1659},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D007645"},{"id":"A8","pred":"#label","subj":"T8","obj":"D007645"},{"id":"A9","pred":"#label","subj":"T9","obj":"D007645"},{"id":"A4","pred":"#label","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"#label","subj":"T5","obj":"D008545"},{"id":"A7","pred":"#label","subj":"T7","obj":"D007645"},{"id":"A3","pred":"#label","subj":"T3","obj":"D007645"},{"id":"A6","pred":"#label","subj":"T6","obj":"D014777"},{"id":"A2","pred":"#label","subj":"T2","obj":"D007645"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-NCBITaxon-2

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":461,"end":467},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":587,"end":595},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":1002,"end":1007},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":1606,"end":1611},"obj":"OrganismTaxon"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-Chemical-MeSH-CHEBI

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":60,"end":63},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":377,"end":390},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":1182,"end":1189},"obj":"ChemicalEntity"},{"id":"T7","span":{"begin":1193,"end":1201},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":1606,"end":1627},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_15595"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D000109"},{"id":"A3","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_15355"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A5","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A6","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"},{"id":"A7","pred":"ID:","subj":"T7","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A8","pred":"ID:","subj":"T7","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A9","pred":"ID:","subj":"T7","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A10","pred":"ID:","subj":"T10","obj":"C048963"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

LitCoin-training-merged

DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":616,"end":622},"obj":"gene:57152"},{"id":"T1","span":{"begin":683,"end":691},"obj":"disease:C0025202"},{"id":"T2","span":{"begin":616,"end":622},"obj":"gene:57152"},{"id":"T3","span":{"begin":696,"end":711},"obj":"disease:C0042769"},{"id":"T4","span":{"begin":644,"end":659},"obj":"gene:57152"},{"id":"T5","span":{"begin":683,"end":691},"obj":"disease:C0025202"},{"id":"T6","span":{"begin":644,"end":659},"obj":"gene:57152"},{"id":"T7","span":{"begin":696,"end":711},"obj":"disease:C0042769"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":150,"end":181},"obj":"HP_0000007"},{"id":"T2","span":{"begin":150,"end":169},"obj":"HP_0000007"},{"id":"T3","span":{"begin":683,"end":691},"obj":"HP_0002861"},{"id":"T4","span":{"begin":733,"end":749},"obj":"HP_0002843"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

Allie

{"project":"Allie","denotations":[{"id":"SS1_20854438_2_0","span":{"begin":87,"end":100},"obj":"expanded"},{"id":"SS2_20854438_2_0","span":{"begin":102,"end":105},"obj":"abbr"},{"id":"SS1_20854438_3_0","span":{"begin":367,"end":399},"obj":"expanded"},{"id":"SS2_20854438_3_0","span":{"begin":401,"end":406},"obj":"abbr"},{"id":"SS1_20854438_10_0","span":{"begin":1008,"end":1042},"obj":"expanded"},{"id":"SS2_20854438_10_0","span":{"begin":1044,"end":1049},"obj":"abbr"},{"id":"SS1_20854438_10_1","span":{"begin":1182,"end":1231},"obj":"expanded"},{"id":"SS2_20854438_10_1","span":{"begin":1233,"end":1237},"obj":"abbr"}],"relations":[{"id":"AE1_20854438_2_0","pred":"abbreviatedTo","subj":"SS1_20854438_2_0","obj":"SS2_20854438_2_0"},{"id":"AE1_20854438_3_0","pred":"abbreviatedTo","subj":"SS1_20854438_3_0","obj":"SS2_20854438_3_0"},{"id":"AE1_20854438_10_0","pred":"abbreviatedTo","subj":"SS1_20854438_10_0","obj":"SS2_20854438_10_0"},{"id":"AE1_20854438_10_1","pred":"abbreviatedTo","subj":"SS1_20854438_10_1","obj":"SS2_20854438_10_1"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"20854438-11#46#50#geners28937888","span":{"begin":1688,"end":1692},"obj":"geners28937888"},{"id":"20854438-11#46#50#geners112121360","span":{"begin":1688,"end":1692},"obj":"geners112121360"},{"id":"20854438-11#46#50#geners200751829","span":{"begin":1688,"end":1692},"obj":"geners200751829"},{"id":"20854438-11#14#17#diseaseC0025221","span":{"begin":1656,"end":1659},"obj":"diseaseC0025221"}],"relations":[{"id":"46#50#geners2893788814#17#diseaseC0025221","pred":"associated_with","subj":"20854438-11#46#50#geners28937888","obj":"20854438-11#14#17#diseaseC0025221"},{"id":"46#50#geners11212136014#17#diseaseC0025221","pred":"associated_with","subj":"20854438-11#46#50#geners112121360","obj":"20854438-11#14#17#diseaseC0025221"},{"id":"46#50#geners20075182914#17#diseaseC0025221","pred":"associated_with","subj":"20854438-11#46#50#geners200751829","obj":"20854438-11#14#17#diseaseC0025221"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}

DisGeNET5_gene_disease

tmVarCorpus

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":1233,"end":1237},"obj":"ProteinMutation:p|SUB|G|86|R"},{"id":"T2","span":{"begin":1496,"end":1500},"obj":"ProteinMutation:p|SUB|G|86|R"},{"id":"T3","span":{"begin":1688,"end":1692},"obj":"ProteinMutation:p|SUB|G|86|R"}],"text":"SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.\nBACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis. In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function. Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.\nOBJECTIVES: To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM. To test that SLURP-1 is essential for T-cell activation.\nMETHODS: Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein. PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.\nRESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation. This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.\nCONCLUSIONS: Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation."}