Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP122006.RAZ7PR76pdtuJq23fAbSWtSRrQPyLwpi6AbJpSTwI0hK4130_assertion description "[DRB3*0101 and DRB1*0301 belong to an ancestral haplotype and are associated with many autoimmune diseases linked to antigen presentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122006.RAZ7PR76pdtuJq23fAbSWtSRrQPyLwpi6AbJpSTwI0hK4130_provenance.
• NP122011.RAXzSh9y3G_CiWNrk3sDEvvg6AnyV0j4M-2QvJN_OJ-fw130_assertion description "[Polymorphisms of the gene encoding Fas have been linked to a variety of autoimmune diseases/gene polymorphisms might be genetic markers for AIH and PBC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122011.RAXzSh9y3G_CiWNrk3sDEvvg6AnyV0j4M-2QvJN_OJ-fw130_provenance.
• NP122014.RAbtkGdBT-ZEylfPhHYzYN653jV9Y6HGcMUTSdbI04A5g130_assertion description "[Our results provide evidence of a role for DR5 and DQ3 HLA class II clusters and a higher frequency of HLA homozygous leading to the clinical outcome of type II mixed cryoglobulinemic autoimmune disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122014.RAbtkGdBT-ZEylfPhHYzYN653jV9Y6HGcMUTSdbI04A5g130_provenance.
• NP122022.RAWPO8E61tc-GS-7dDg-y151eWyFwSdNfBEltkYGKaWwo130_assertion description "[A high in vivo and in vitro production of TNF-alpha found in carriers of the common Caucasoid haplotype HLA-B8, DR3 is associated with multiple autoimmune diseases and immune response dysregulation in healthy subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122022.RAWPO8E61tc-GS-7dDg-y151eWyFwSdNfBEltkYGKaWwo130_provenance.
• NP122024.RAUPKpPzagE4BBO-sGdXZRH8tFo1-Mb_BniVryvKYbBjM130_assertion description "[In a genotypic analysis of Koreans with systemic autoimmune diseases, we found Asp299Gly and Thr399Ile polymorphisms of Toll-like receptor 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122024.RAUPKpPzagE4BBO-sGdXZRH8tFo1-Mb_BniVryvKYbBjM130_provenance.
• NP122025.RAck7R_eNlxBc4uY_1tNyJcXOziZFr31weV87LyUXRYX8130_assertion description "[PTPN22 in mediating susceptibility to generalized vitiligo and associated autoimmune diseases, but do not support a role for CTLA4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122025.RAck7R_eNlxBc4uY_1tNyJcXOziZFr31weV87LyUXRYX8130_provenance.
• NP122027.RAVbt5GZxDWIXfCuoe6B0EFQp4urfWBWXYrCF8c4cZtU4130_assertion description "[the expression of CCL21 but not CCL19 or 20 was highly induced in endothelial cells of T-cell autoimmune diseases ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122027.RAVbt5GZxDWIXfCuoe6B0EFQp4urfWBWXYrCF8c4cZtU4130_provenance.
• NP122029.RAW_odpEWWS-vhMCQqlXlmin-op-pW0fbEv_ysdiwEfTc130_assertion description "[Specific Kv1.3 blockers may be beneficial in autoimmune diseases such as multiple sclerosis in which effector memory T cells are found in the target organ ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122029.RAW_odpEWWS-vhMCQqlXlmin-op-pW0fbEv_ysdiwEfTc130_provenance.
• NP122031.RAYRPDeFik3kCJVGtXMnY08TfJMlUl-UPoTInR_zoo0Gs130_assertion description "[mutations in the JAK1 and Tyk2 genes may be identified as initial molecular defects in human cancers and autoimmune diseases ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122031.RAYRPDeFik3kCJVGtXMnY08TfJMlUl-UPoTInR_zoo0Gs130_provenance.
• NP122040.RAXWoGkMyzZiAL08wWNxgeKoikZztXVX4lt-9MbBeY468130_assertion description "[A spontaneous CD8 T cell-dependent autoimmune disease to an antigen expressed under the human keratin 14 promoter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122040.RAXWoGkMyzZiAL08wWNxgeKoikZztXVX4lt-9MbBeY468130_provenance.
• NP122051.RAdX0dsaO3fuq7rX_8KzBIGBfHumN00urzjtQi0V-rxgA130_assertion description "[Cerebrospinal fluid levels are lower in motor neuron disease than in normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122051.RAdX0dsaO3fuq7rX_8KzBIGBfHumN00urzjtQi0V-rxgA130_provenance.
• NP122052.RAW4-RcnC0Ohut_3QNt5FT2p9KwocV9n7PWSANQgS5Bro130_assertion description "[Motor neuron disease and frontotemporal lobar degeneration reveal identical inclusions of TDP-43.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122052.RAW4-RcnC0Ohut_3QNt5FT2p9KwocV9n7PWSANQgS5Bro130_provenance.
• NP122058.RAQoPF06cBf86PNyjkrKh0PcbELLJOedgSD7U9hUnvg3w130_assertion description "[DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122058.RAQoPF06cBf86PNyjkrKh0PcbELLJOedgSD7U9hUnvg3w130_provenance.
• NP122062.RAWx9VAEx9pMA-t98sOzePsTsDix9zayp2hl6LZZfe2Hw130_assertion description "[Cerebrospinal fluid levels are lower in motor neuron disease than in normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122062.RAWx9VAEx9pMA-t98sOzePsTsDix9zayp2hl6LZZfe2Hw130_provenance.
• NP122064.RAUL26MTrB3S2OcEbtU5Y3YZiR9V15n_JUahFrQatMp2M130_assertion description "[TDP-43 inclusions seen in frontotemporal dementias and motor neuron diseases are specific to a neurodegenerative process.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122064.RAUL26MTrB3S2OcEbtU5Y3YZiR9V15n_JUahFrQatMp2M130_provenance.
• NP122068.RAXMbdXNhZ_lQrvdhDpQe2umWVZIYJhouk-ntxwBudntg130_assertion description "[Human neural stem cells transplanted into rats transgenic for SOSD1 the lifespan of fulminant motor neuron disease animals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122068.RAXMbdXNhZ_lQrvdhDpQe2umWVZIYJhouk-ntxwBudntg130_provenance.
• NP122087.RAZZSgly5Mt8EQkoMe1dFksUYpDsK2r2acKzsMOZDWODs130_assertion description "[Mutations in glucosidase alpha is asspciated with glycogen storage disease type II ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122087.RAZZSgly5Mt8EQkoMe1dFksUYpDsK2r2acKzsMOZDWODs130_provenance.
• NP122088.RAeyb1tBSFMgJ8HpBXtfUV4CL8Z-uUVdl5UBfiVYoCYeY130_assertion description "[Polymorphism in acid alpha-glucosidase is associated with Pompe disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122088.RAeyb1tBSFMgJ8HpBXtfUV4CL8Z-uUVdl5UBfiVYoCYeY130_provenance.
• NP122095.RAZK264fKjZuRc_LbVlEKnMGqA4jtvJbx-sgkoGjxSKg8130_assertion description "[Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122095.RAZK264fKjZuRc_LbVlEKnMGqA4jtvJbx-sgkoGjxSKg8130_provenance.
• NP122100.RAfnt-VPCLwsFYxdqHg_8RGyFbutShNrugK7H-klh5x_E130_assertion description "[The non-synonymous single nucleotide polymorphism E145D may be associated with the atrial fibrillation phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122100.RAfnt-VPCLwsFYxdqHg_8RGyFbutShNrugK7H-klh5x_E130_provenance.
• NP122103.RAdqgnCrhERlzlDhrmrJaX_NfumSUo5l6czziaIntaUKk130_assertion description "[Normal levels of C-reactive protein and IL-6, along with the elevated levels of IL-8 in patients with permanent atrial fibrillation (AF), but not in those with paroxysmal AF, suggest a link between a low-grade inflammatory reaction and long-lasting AF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122103.RAdqgnCrhERlzlDhrmrJaX_NfumSUo5l6czziaIntaUKk130_provenance.
• NP122104.RAR8ivrimMlvaIWVff4zB_1CGcfXrP_4q4UCu_GDvAV48130_assertion description "[we describe a large atypical Holt-Oram syndrome family with mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease/of TBX5 revealed a novel mutation, c.373G > A, resulting in p.Gly125Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122104.RAR8ivrimMlvaIWVff4zB_1CGcfXrP_4q4UCu_GDvAV48130_provenance.
• NP122114.RAVEkpIka87lEVvNl5zCp6mYr--_h9zvX51FM9pa28tK4130_assertion description "[Functional assessment of a mutation in Kv7.1 identified in a proband with permanent atrial fibrillation and prolonged QT interval is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122114.RAVEkpIka87lEVvNl5zCp6mYr--_h9zvX51FM9pa28tK4130_provenance.
• NP122122.RAcbo4j8GG_Lqd2dYdfUygSzCUycfGzVuYdsLXyiuhgD0130_assertion description "[Soluble CD40L level is a predictor of vascular events in patients with nonvalvular atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122122.RAcbo4j8GG_Lqd2dYdfUygSzCUycfGzVuYdsLXyiuhgD0130_provenance.
• NP122123.RAeRlgieDntyR7GXjzHOvH7m0cNG6EIr256B2HtUgbtsE130_assertion description "[Atrial fibrillation patients had significantly higher sCD40L levels compared to healthy control subjects with no difference in platelet surface CD40L and pCD40L levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122123.RAeRlgieDntyR7GXjzHOvH7m0cNG6EIr256B2HtUgbtsE130_provenance.
• NP122125.RAZUFrv-862Dmf3qxmnCPHByoYJk_WMU7Llhru4_4TIhs130_assertion description "[An association between the CETP TaqIB polymorphism and atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122125.RAZUFrv-862Dmf3qxmnCPHByoYJk_WMU7Llhru4_4TIhs130_provenance.
• NP122126.RAaijy2pW1Z1DEsSWljOidSnfO73bqbjFpYZ1Dcyzwso4130_assertion description "[These results suggest that CETP TaqIB (B2 allele as protective factor) genetic polymorphisms may be associated with the non-valvular atrial fibrillation in the Chinese Han population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122126.RAaijy2pW1Z1DEsSWljOidSnfO73bqbjFpYZ1Dcyzwso4130_provenance.
• NP122128.RAaHbwG6D1lQdsAyHgg3zPwZJSMRN0UdZhApKEnVAX5D8130_assertion description "[The Ang II/Rac1/STAT3 pathway is an important signaling pathway in the atrial myocardium to mediate atrial structural remodeling, and losartan and statin may be able to reverse Ang II-induced atrial structural remodeling in atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122128.RAaHbwG6D1lQdsAyHgg3zPwZJSMRN0UdZhApKEnVAX5D8130_provenance.
• NP122133.RAenbGuApnw80apPs7X6EvEkNLWVmIS-rh2GDxP7lL29M130_assertion description "[Increase in AngII and decrease in substance P after coronary artery bypass grafting may play role in occurrence of postoperative atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122133.RAenbGuApnw80apPs7X6EvEkNLWVmIS-rh2GDxP7lL29M130_provenance.
• NP122138.RAbEgwgNJEx0E5OqdDIzenYC_j5QChA32iJw_Tg8Aez1E130_assertion description "[Our data show that a mutation in hsp70-Hom gene is associated with higher incidence of Postoperative atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122138.RAbEgwgNJEx0E5OqdDIzenYC_j5QChA32iJw_Tg8Aez1E130_provenance.
• NP122139.RAcABFLE8AL8vHgqjyaDwRFwJBrVqQFQBV8Kb-d6M5VZM130_assertion description "[Endothelial dysfunction exists in atrial fibrillation and is related to dysfuncion of VWF levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122139.RAcABFLE8AL8vHgqjyaDwRFwJBrVqQFQBV8Kb-d6M5VZM130_provenance.
• NP122145.RATpvsiIvKAQibL30Wk4BKvcJezJn1q5snqeIS5NlFiq4130_assertion description "[A novel SCN5A coding variant, K1493R, located six amino acids downstream from the fast inactivation motif of sodium channels was idetified in atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122145.RATpvsiIvKAQibL30Wk4BKvcJezJn1q5snqeIS5NlFiq4130_provenance.
• NP122146.RAbRtL9sujgk4UQ4gKpJL8xJXtSmKtV6nAUh6_VPeAyrg130_assertion description "[The researchers found a single SCN5A mutation association with arrhythmia in a familial cohort with atrial fibrillation, which suggests this variation in the SCN5A gene is not a significant cause of familial atrial fibrillation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122146.RAbRtL9sujgk4UQ4gKpJL8xJXtSmKtV6nAUh6_VPeAyrg130_provenance.
• NP122155.RAWI80dnvAEIdYmhq6OS0Lnt1IOT4H-Gn3vn2o9--gZoo130_assertion description "[Atrial fibrillation is associated with an increase in the expression of ADAM15 in the heart atrium ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122155.RAWI80dnvAEIdYmhq6OS0Lnt1IOT4H-Gn3vn2o9--gZoo130_provenance.
• NP122159.RAf7b3iOsZwAtwzJllyhNXiP142v6TMVbNS8AhqtrECK0130_assertion description "[Our data provide evidence for an altered ratio of IL-1/IL-1ra in DCM patients/dysregulation may contribute to pathogenesis and/or progression of heart disease by modulating the otherwise balanced IL-1-mediated functions in cardiovascular cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122159.RAf7b3iOsZwAtwzJllyhNXiP142v6TMVbNS8AhqtrECK0130_provenance.
• NP122160.RAVWdqLC6r-4_B-tZRNH12s_uazp5HYVFTAYYvykDDwQY130_assertion description "[NT-proANP & NT-proCNP showed high values in first days of life followed by a sharp decrease & later by a progressive decrease until a plateau was reached; NT-proANP was significantly higher in infants with cardiac disease compared to non-cardiac disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122160.RAVWdqLC6r-4_B-tZRNH12s_uazp5HYVFTAYYvykDDwQY130_provenance.
• NP122172.RAbmAxs3zEHtoVeOMxaWcLzK-VWTFYLYYACQLeqQ2k6Mc130_assertion description "[Elevated IL-6 serum concentrations are prospectively associated with an increased risk of spontaneous ventricular tachyarrhythmia or ventricular fibrillation in patients with heart disease who use a therapeutic implantable cardioverter defibrillator.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122172.RAbmAxs3zEHtoVeOMxaWcLzK-VWTFYLYYACQLeqQ2k6Mc130_provenance.
• NP122174.RAULk9pZONghuXptuvTw1EZCjMM-JxO2yKFQlxz3usEsA130_assertion description "[we describe a large atypical Holt-Oram syndrome family with mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease/of TBX5 revealed a novel mutation, c.373G > A, resulting in p.Gly125Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122174.RAULk9pZONghuXptuvTw1EZCjMM-JxO2yKFQlxz3usEsA130_provenance.
• NP122177.RAWs1h1rMNWbc3_ivCKI69IjnhWBcQj7WFc8oh82BuLFU130_assertion description "[PAPP-A levels seem to be a potentially highly specific marker for heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122177.RAWs1h1rMNWbc3_ivCKI69IjnhWBcQj7WFc8oh82BuLFU130_provenance.
• NP122185.RAeDFSP4fEVlJLKGC4enWscuXdwEBGrVucAwQ_c5nAjoo130_assertion description "[LBH is implicated as a candidate gene for congenital heart disease associated with partial trisomy 2p syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122185.RAeDFSP4fEVlJLKGC4enWscuXdwEBGrVucAwQ_c5nAjoo130_provenance.
• NP122188.RATJFSWf7WZlcDJXWRJ9-G4zZHFtLGspnOGUVXvp5-mv8130_assertion description "[the role of Bcl-x (L) in apoptosis in cardiomyocytes and discuss the potential use of Bcl-x (L) as a cardioprotective therapy for cardiac diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122188.RATJFSWf7WZlcDJXWRJ9-G4zZHFtLGspnOGUVXvp5-mv8130_provenance.
• NP122189.RAXRnqtur-YFEMPfxZ3K7hZnAZjbFxZGPXqthkeB_qAnA130_assertion description "[If neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122189.RAXRnqtur-YFEMPfxZ3K7hZnAZjbFxZGPXqthkeB_qAnA130_provenance.
• NP122190.RAcIsiEfUXQxRjYC9lw_1PaImU76J1EbyL9C62dIVuklU130_assertion description "[Results show that PTPN11 mutations are rarely found in two isolated forms of congenital heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122190.RAcIsiEfUXQxRjYC9lw_1PaImU76J1EbyL9C62dIVuklU130_provenance.
• NP122194.RAXkPKlMLlFxfFJLWgDnerVL366jASmBiUUFZuRRHfoRA130_assertion description "[Evidence from Rad transgenic mice suggests that the Rad-associated signaling pathway may play a role in arrhythmogenesis in diverse cardiac diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122194.RAXkPKlMLlFxfFJLWgDnerVL366jASmBiUUFZuRRHfoRA130_provenance.
• NP122195.RAT0O9UVp0KxGetS49IURLO8yaX0eLP7GNxaSUM4fy3Ns130_assertion description "[Plasma levels in normotensive Type 2 diabetic patients without cardiac disease and macroalbuminuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122195.RAT0O9UVp0KxGetS49IURLO8yaX0eLP7GNxaSUM4fy3Ns130_provenance.
• NP122197.RAS8qyE4NOtYn2rTQ_7P4spKQ_Nqv7nmH1qq-2u80A7X4130_assertion description "[SCN5A mutation causes a familial form of atrial fibrillation without any underlying structural heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122197.RAS8qyE4NOtYn2rTQ_7P4spKQ_Nqv7nmH1qq-2u80A7X4130_provenance.
• NP122198.RARH4C--Z7HUdycgfNM3UPm3atpb_wY3qJjiiMYWsLtKk130_assertion description "[Compounds like RPR260243 will be useful for studying the physiological role of HERG and may one day find use in treating cardiac disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122198.RARH4C--Z7HUdycgfNM3UPm3atpb_wY3qJjiiMYWsLtKk130_provenance.
• NP122199.RAbYXkraOlJdRXgiHLHpOthe4ECYoZx1L0hY6NVWIdqMQ130_assertion description "[Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122199.RAbYXkraOlJdRXgiHLHpOthe4ECYoZx1L0hY6NVWIdqMQ130_provenance.
• NP122201.RAYFouaHcyaIqo3qap85GNSs8H1cUbBgTQQqbxeSmi8_I130_assertion description "[Ghrelin, TNF-alpha, and IL-6 may have roles in cyanotic and acyanotic congenital heart disease in children ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122201.RAYFouaHcyaIqo3qap85GNSs8H1cUbBgTQQqbxeSmi8_I130_provenance.
• NP122207.RAYq4a8drMS6ZDf8_Wj9s87uvj0AvO02PqX_zKSXRtHUc130_assertion description "[NF1 and Nkx2-5 might be involved in heart development and congenital heart disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122207.RAYq4a8drMS6ZDf8_Wj9s87uvj0AvO02PqX_zKSXRtHUc130_provenance.
• NP122221.RAfA8VyicaHexdnY7ll2pieuN_rABzVwhqrRUiqOtOgqQ130_assertion description "[Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122221.RAfA8VyicaHexdnY7ll2pieuN_rABzVwhqrRUiqOtOgqQ130_provenance.
• NP122222.RATTTdzbgDyY0g16fXtaFcLMA2Kff3rh5FLCAm4P4hx6k130_assertion description "[C1QTNF5 has a role in late-onset retinal degeneration ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122222.RATTTdzbgDyY0g16fXtaFcLMA2Kff3rh5FLCAm4P4hx6k130_provenance.
• NP122225.RARQ8-87OkckGZQ_1QIEwDlnjcZ_g1dYuW3IHL5mh4PLY130_assertion description "[Defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration/gene is necessary for photoreceptor maintenance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122225.RARQ8-87OkckGZQ_1QIEwDlnjcZ_g1dYuW3IHL5mh4PLY130_provenance.
• NP122231.RAVY56sAWiAG6Y5GRZtLpIMrA6S1IJ3BmGsAMWLQZj-dw130_assertion description "[a new mutation in the PRPF31 gene is described, together with the clinical phenotype of dominant retinitis pigmentosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122231.RAVY56sAWiAG6Y5GRZtLpIMrA6S1IJ3BmGsAMWLQZj-dw130_provenance.
• NP122232.RAXH70pI2yupld-oOQWUiOgQz7R6gKP1k88f2p7vCyyeE130_assertion description "[Mutations in PRPF31 causing adRP (autosomal dominant retinitis pigmentosa) were present in nearly 5% of a mixed U.K.population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122232.RAXH70pI2yupld-oOQWUiOgQz7R6gKP1k88f2p7vCyyeE130_provenance.
• NP122238.RAXKK1mWpdIj8igQnR0Y6oXAmwjxx4Lcfol2pinVyAmL0130_assertion description "[The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122238.RAXKK1mWpdIj8igQnR0Y6oXAmwjxx4Lcfol2pinVyAmL0130_provenance.
• NP122249.RATp5N5WrpMY8lWyo3N3Eu-c4Au9oW-rZqsq_kFYLUW_Q130_assertion description "[dominant negative effect on conformational maturation that may underlie the dominant inheritance of autosomal dominant retinitis pigmentosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122249.RATp5N5WrpMY8lWyo3N3Eu-c4Au9oW-rZqsq_kFYLUW_Q130_provenance.
• NP122251.RAY3Z_-SX4fa3Rc-MarJJzNX3uniT1eM2Euz6xNdKe3w4130_assertion description "[Impaired endocytic activity may underlie the pathogenesis of retinitis pigmentosa caused by class III rhodopsin mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122251.RAY3Z_-SX4fa3Rc-MarJJzNX3uniT1eM2Euz6xNdKe3w4130_provenance.
• NP122256.RARGZFoSGYQQ2nIX1DZUdjTCR6FNb3ivWytK_u0OlFgMk130_assertion description "[in patients with Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, and autosomal dominant/recessive cone-rod dystrophies six different variants of RDH12 were observed of which three variants were novel ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122256.RARGZFoSGYQQ2nIX1DZUdjTCR6FNb3ivWytK_u0OlFgMk130_provenance.
• NP122258.RAdgaTI7ixuVIOgHzCLYZbTm7og8LYgvqeniWx9X6nQdA130_assertion description "[These results suggest that the PKC gamma R659S mutation is susceptible to neuronal death and is involved in the pathogenesis of neurodegenerative diseases, including Retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122258.RAdgaTI7ixuVIOgHzCLYZbTm7og8LYgvqeniWx9X6nQdA130_provenance.
• NP122268.RAZoUSAZ4FQcXnm0RucPycsYC4UdUyEesgdLR9ns0MtDc130_assertion description "[RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122268.RAZoUSAZ4FQcXnm0RucPycsYC4UdUyEesgdLR9ns0MtDc130_provenance.
• NP122270.RARBpsC_eKSE9WUNbi7IzKrZDD5YjnN-4U_MP51jP5GSg130_assertion description "[Different RPGR mutations lead to distinct RP (retinitis pigmentosa) phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122270.RARBpsC_eKSE9WUNbi7IzKrZDD5YjnN-4U_MP51jP5GSg130_provenance.
• NP122271.RAdTuDm4St5Ltav5tapdH1ls1laOG4_gDrU4ajaNCd6VI130_assertion description "[Identification of an RPGR mutation in atrophic macular degeneration expands the phenotypic range from retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122271.RAdTuDm4St5Ltav5tapdH1ls1laOG4_gDrU4ajaNCd6VI130_provenance.
• NP122272.RAdQdPrgmfjIs8U-Vrro4vy4V__JQ5tmxssKuFOfwFY-Q130_assertion description "[A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122272.RAdQdPrgmfjIs8U-Vrro4vy4V__JQ5tmxssKuFOfwFY-Q130_provenance.
• NP122280.RARc6agWMVgNb7YK32dSpCGEw-BJgbQkg12JBDnRcq4BY130_assertion description "[The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122280.RARc6agWMVgNb7YK32dSpCGEw-BJgbQkg12JBDnRcq4BY130_provenance.
• NP122284.RATQdblxHL5OycNf1ej2hMe68fruXWLSyfdeleV1ozNW0130_assertion description "[A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122284.RATQdblxHL5OycNf1ej2hMe68fruXWLSyfdeleV1ozNW0130_provenance.
• NP122287.RAacoKPnAl6H1aXW-_rx3LGouLPzkyzjuBL_Tz6bS3EgA130_assertion description "[Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122287.RAacoKPnAl6H1aXW-_rx3LGouLPzkyzjuBL_Tz6bS3EgA130_provenance.
• NP122290.RAUEh1KMNxQ7UKjyfQUkV_Z5BTLfs8OHQ9HFim0c7Hzk4130_assertion description "[A novel mutation has been identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in retinitis pigmentosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122290.RAUEh1KMNxQ7UKjyfQUkV_Z5BTLfs8OHQ9HFim0c7Hzk4130_provenance.
• NP122295.RAbXckR7-r_yirAUW4LlUo0pYpbiG4drvCuSCKPizGekQ130_assertion description "[Possible involvement of USH2A should be considered in the molecular genetic evaluation of patients with autosomal-recessive RP (retinitis pigmentosa).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122295.RAbXckR7-r_yirAUW4LlUo0pYpbiG4drvCuSCKPizGekQ130_provenance.
• NP122299.RAWau8E3WD2zuzuX4qxabYuWOPvqZesicV6og0RwjXu2o130_assertion description "[The expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122299.RAWau8E3WD2zuzuX4qxabYuWOPvqZesicV6og0RwjXu2o130_provenance.
• NP122301.RAa5y1Paua4c14Mv0EFp1b1E9Q8Ob5lNbMK-kdU9xWj_w130_assertion description "[EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa, is identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122301.RAa5y1Paua4c14Mv0EFp1b1E9Q8Ob5lNbMK-kdU9xWj_w130_provenance.
• NP122302.RAQatccyI2nmmJ7xo2FxDfa7U8sSiTe76l-aCTI-gb29U130_assertion description "[Mutations in the MERTK gene are relatively rare in Japanese patients with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122302.RAQatccyI2nmmJ7xo2FxDfa7U8sSiTe76l-aCTI-gb29U130_provenance.
• NP122304.RAas-e-BhVnNl97r8G7tO8mbhw5k-BdlDyNQUxp9zOvd0130_assertion description "[AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122304.RAas-e-BhVnNl97r8G7tO8mbhw5k-BdlDyNQUxp9zOvd0130_provenance.
• NP122305.RAQ_Z23arw6XoSGpf35L-iM4BIa0lx5pCaAayCEKWugcg130_assertion description "[Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122305.RAQ_Z23arw6XoSGpf35L-iM4BIa0lx5pCaAayCEKWugcg130_provenance.
• NP122311.RASlsGg4Tdk0f1dbFP4vJRUu3cUueiBxzIYH_l8zU5Yac130_assertion description "[The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122311.RASlsGg4Tdk0f1dbFP4vJRUu3cUueiBxzIYH_l8zU5Yac130_provenance.
• NP122312.RAfqqcOutdWSvERJZIY_nAHuNnP2OiZPMp91etng62sQo130_assertion description "[Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122312.RAfqqcOutdWSvERJZIY_nAHuNnP2OiZPMp91etng62sQo130_provenance.
• NP122322.RAWGhdd9B13rTpv3NmT5W1hQELO9x-t7h-syZ5zh58Vic130_assertion description "[This 30 kb deletion contains the exons coding for the RCC1-like domain of RPGR/is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122322.RAWGhdd9B13rTpv3NmT5W1hQELO9x-t7h-syZ5zh58Vic130_provenance.
• NP122323.RAX_ZhXYVYfv7dz9OwPA6-luDBMx3ydemPZCj6rSp81Gg130_assertion description "[Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122323.RAX_ZhXYVYfv7dz9OwPA6-luDBMx3ydemPZCj6rSp81Gg130_provenance.
• NP122327.RAcCt8gmgFbyzPCKG_2JPHtaGAF7AIRTwMR5FufmW03Gg130_assertion description "[Real-time PCR-based genotyping method developed here is useful for investigations of allelic asymmetries within genomic regions with variations found in retinitis pigmentosa and retinl degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122327.RAcCt8gmgFbyzPCKG_2JPHtaGAF7AIRTwMR5FufmW03Gg130_provenance.
• NP122335.RAaQQi68TKO6r-1ipksuMdTZhp0q9aEK8mus7SvnHBxlw130_assertion description "[Peropsin gene is not a common cause of retinitis pigmentosa or some related retinal degenerations, at least in the set of patients we analyzed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122335.RAaQQi68TKO6r-1ipksuMdTZhp0q9aEK8mus7SvnHBxlw130_provenance.
• NP122342.RAX1Lx765EyJ3YTK79OmQU7aPsn-N8rDRMNSf8xFwHE0c130_assertion description "[RdCVF variants have roles in leber congenital amaurosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122342.RAX1Lx765EyJ3YTK79OmQU7aPsn-N8rDRMNSf8xFwHE0c130_provenance.
• NP122345.RATPIyPN15-VVPjFf9HsWSJCVnzFBz7ZSk7ZuPpM1GwcM130_assertion description "[Leber congenital amaurosis (LCA) caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122345.RATPIyPN15-VVPjFf9HsWSJCVnzFBz7ZSk7ZuPpM1GwcM130_provenance.
• NP122355.RAZUajPpFfeNmdYUH2YPgKL2iM_lYYO0_BAlbtmteISI4130_assertion description "[LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122355.RAZUajPpFfeNmdYUH2YPgKL2iM_lYYO0_BAlbtmteISI4130_provenance.
• NP122357.RARE-7QangkKTXkT9Xb75AyJrabgB2WwFHlrL7lmqMfLs130_assertion description "[This is the second report of LCA5 mutations causing Leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122357.RARE-7QangkKTXkT9Xb75AyJrabgB2WwFHlrL7lmqMfLs130_provenance.
• NP122359.RAZfNVQaGFQG22jOV77InGxB1WtsC7RmIZDenlMPXaNh8130_assertion description "[In human heterozygotes of CRB1 mutations (parents of offspring with Leber congenital amaurosis), distinctive regional retinal dysfunctions were found by multifocal ERG (electroretinography) measurements ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122359.RAZfNVQaGFQG22jOV77InGxB1WtsC7RmIZDenlMPXaNh8130_provenance.
• NP122360.RAanL4InccjBpddUXFxwBwRy-6q9NHfBf8XlKfihMbnFQ130_assertion description "[Mutation disrupting the cytoplasmic domain of CRB1 is associated with Leber congenital amaurosis in arabs ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122360.RAanL4InccjBpddUXFxwBwRy-6q9NHfBf8XlKfihMbnFQ130_provenance.
• NP122368.RAYJ4hqPNq1Bp2kpE3U1WdPBT-r9W9yi_MJ7zV4DfG95E130_assertion description "[Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.a new, previously undescribed, combination of mutations of the PMM gene locus on chromosome 16p13 (647, 691).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122368.RAYJ4hqPNq1Bp2kpE3U1WdPBT-r9W9yi_MJ7zV4DfG95E130_provenance.
• NP122372.RAY-tF28mhzyaLu5HYZ-7tq7IeHbuTYz_NTvBpLHPQCyQ130_assertion description "[Mutations in phosphomannomutase is associated with ophthalmic manifestations of congenital disorder of glycosylation type 1a ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122372.RAY-tF28mhzyaLu5HYZ-7tq7IeHbuTYz_NTvBpLHPQCyQ130_provenance.
• NP122374.RARsFjrpr29e98V5BOfxRbH3yL62jVIU0_YyixneCysqQ130_assertion description "[this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP-sialic acid into the Golgi apparatus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122374.RARsFjrpr29e98V5BOfxRbH3yL62jVIU0_YyixneCysqQ130_provenance.
• NP122383.RAe3GhcDo4AMT3QFcJd1kdb5zDpPy0hWkAvakCcYHz1rk130_assertion description "[NF-KB could be considered as a coordinating element in the body's response to stress, infection, or inflammation, and it may be a good therapeutic target.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122383.RAe3GhcDo4AMT3QFcJd1kdb5zDpPy0hWkAvakCcYHz1rk130_provenance.
• NP122391.RARufylyvAOFSoUA_bFdu16eJ-Gap5fRE5MOlkhBpetRo130_assertion description "[The data suggest that Th17 cell infiltration in asthmatic airways links T cell activity with neutrophilic inflammation in asthma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122391.RARufylyvAOFSoUA_bFdu16eJ-Gap5fRE5MOlkhBpetRo130_provenance.
• NP122399.RAbV5ZXaI9wDq4K62vH76OXSkluMOfWTNHK34Q0lj2if8130_assertion description "[ESE-1 and ESE-3 play an important role in airway inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122399.RAbV5ZXaI9wDq4K62vH76OXSkluMOfWTNHK34Q0lj2if8130_provenance.
• NP122407.RAZ3nzUrMtvifoHwzEklKSQqeJzi2dL7fMha2lOzOmIh4130_assertion description "[IL-10 reflects a proinflammatory state in patients with ACS and therefore suggests that IL-10 is as effective a biomarker for the risk prediction of future cardiovascular events as other markers of systemic inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122407.RAZ3nzUrMtvifoHwzEklKSQqeJzi2dL7fMha2lOzOmIh4130_provenance.
• NP122409.RAYIoCBEN2EhuOxlkpXxYfyDe0NwQXZ9hvypLHfs_C0w8130_assertion description "[These data demonstrate for the first time that lipid accumulation in hepatocytes can stimulate IL-8 production, thereby potentially contributing to hepatic inflammation and consequent liver injury.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122409.RAYIoCBEN2EhuOxlkpXxYfyDe0NwQXZ9hvypLHfs_C0w8130_provenance.
• NP122410.RAWbZrUbQy8wWNQrVP-_JaqG8cNxTGMCNL3eXmMgvNv1I130_assertion description "[peptidylarginine deiminase citrullinates the chemokine CXCL8, and thus may dampen neutrophil extravasation during acute or chronic inflammation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122410.RAWbZrUbQy8wWNQrVP-_JaqG8cNxTGMCNL3eXmMgvNv1I130_provenance.
• NP122413.RARmg9Xocli7z5b2DSL_tFxnCSLZLhlsBsxkIm-pnhTkQ130_assertion description "[Stimulation of conjunctival epithelium with TNF-alpha and/or IFN-gamma generated release of the chemotactic factors IL-8 and RANTES, which could act to prolong inflammation/prolong inflammation by recruiting eosinophils to the ocular surface.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122413.RARmg9Xocli7z5b2DSL_tFxnCSLZLhlsBsxkIm-pnhTkQ130_provenance.
• NP122414.RAb51RAOBkZtaSHF7sNCCBjgqH_SNBLyavm5QbhkjWdvs130_assertion description "[our results strongly suggest that ghrelin may be a proinflammatory peptide in the colon/may participate in the pathophysiology of colonic inflammation by inducing PKC-dependent NF-kappaB activation and IL-8 production at the colonocyte level ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122414.RAb51RAOBkZtaSHF7sNCCBjgqH_SNBLyavm5QbhkjWdvs130_provenance.
• NP122415.RAYQzYLGSGDqjZPbV2UWyBx3PqflanrSyDQM_y58YMyU0130_assertion description "[we show that Ras-dependent CXCL-8 secretion is required for the initiation of tumor-associated inflammation and neovascularization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122415.RAYQzYLGSGDqjZPbV2UWyBx3PqflanrSyDQM_y58YMyU0130_provenance.
• NP122417.RAVuen7LC9YVC9ERgqqVs6rmivXMz8xuXTZRxdONbrcF0130_assertion description "[enhanced expression in Helicobacter pylori infection of gastric mucosa; significant association with bacteria load, chronic inflammation and activity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122417.RAVuen7LC9YVC9ERgqqVs6rmivXMz8xuXTZRxdONbrcF0130_provenance.
• NP122419.RAXNUoa3h1UTswnIxB4SQZPbKyUQ97W-Z9HRkvwf9cduI130_assertion description "[Il-6 and matrix metalloproteinase-9 provide a link between inflammation, matrix degradation and the development/progresion of acute coronary syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122419.RAXNUoa3h1UTswnIxB4SQZPbKyUQ97W-Z9HRkvwf9cduI130_provenance.

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