Nanopublications

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

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NP146475.RARPLUNEG1jgtrMtp_55hd_38pAHG6WH1MdQqbo1Afq6E130_assertion description "[Variants among promoter of TNF-alpha are unlikely to play major role in susceptibility to diabetic retinopathy in Chinese patients with type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146475.RARPLUNEG1jgtrMtp_55hd_38pAHG6WH1MdQqbo1Afq6E130_provenance.
NP146478.RATEBXFhPVWpewvy2OQrEnF_UFqobSgt6dxUQOf36dKwk130_assertion description "[The Asn/Asn genotype of EDN1 was associated with a reduced risk of diabetic retinopathy and with delayed onset of type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146478.RATEBXFhPVWpewvy2OQrEnF_UFqobSgt6dxUQOf36dKwk130_provenance.
NP146480.RAYVkvFaA7rUJmhQl9_W14y9djkXf100bdNn1AVQod1wk130_assertion description "[PEDF may play a protective role against early diabetic retinopathy by attenuating the deleterious effect of AGE ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146480.RAYVkvFaA7rUJmhQl9_W14y9djkXf100bdNn1AVQod1wk130_provenance.
NP146481.RAb6ZrC9Ampm4kKJIk6yc36IkvgUwFyJ8gFiL4KRSPjDw130_assertion description "[polymorphism is associated with diabetic retinopathy in type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146481.RAb6ZrC9Ampm4kKJIk6yc36IkvgUwFyJ8gFiL4KRSPjDw130_provenance.
NP146492.RAYygaxONlZ0v_AZH8E4Pe7O1A9xuj0mJq3-4OuQ4x6EY130_assertion description "[Despite the effect of the -634 C/G VEGF polymorphism on serum and vitreous levels of VEGF in PDR, it failed to contribute to the genetic susceptibility to proliferative diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146492.RAYygaxONlZ0v_AZH8E4Pe7O1A9xuj0mJq3-4OuQ4x6EY130_provenance.
NP146496.RAXRzt04V_VbKpHP7sXjHCoERvH4lID3mB3hH-tFlwWvY130_assertion description "[Direct implication of adhesion molecules in the pathogenesis or progression of type 2 diabetic retinopathy cannot be supported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146496.RAXRzt04V_VbKpHP7sXjHCoERvH4lID3mB3hH-tFlwWvY130_provenance.
NP146499.RASh9cL5YkoeEorIOG_LuhCkfhTWhUOxHSBCRkoqF8E1U130_assertion description "[adiponectin may take part in the pathogenesis of diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146499.RASh9cL5YkoeEorIOG_LuhCkfhTWhUOxHSBCRkoqF8E1U130_provenance.
NP146503.RAc_PKNDhUIVMhEXFaYgOxAmnZRov0ixO1lFH5PAKEa1M130_assertion description "[BMP-4 may play a role in the regulation of ocular angiogenesis associated with diabetic retinopathy (DR) by stimulating vascular endothelial growth factor release from retinal pigment epithelial cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146503.RAc_PKNDhUIVMhEXFaYgOxAmnZRov0ixO1lFH5PAKEa1M130_provenance.
NP146509.RARhzuutiHVrN19RzJ8pofOHCTKfG044v3nZSCUS6SNEI130_assertion description "[polymorphism and risk of severe diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146509.RARhzuutiHVrN19RzJ8pofOHCTKfG044v3nZSCUS6SNEI130_provenance.
NP146512.RAYqE4m30YdXAh4Jr3ZpPhnCtXyW81cayNQ2atxjbfyWQ130_assertion description "[Patients homozygous for allele 4G had a significantly higher risk of diabetic proliferative retinopathy than patients without signs of diabetic retinopathy or nonproliferative retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146512.RAYqE4m30YdXAh4Jr3ZpPhnCtXyW81cayNQ2atxjbfyWQ130_provenance.
NP146514.RAU7LrSNI3jqWgzAST8WJAn1rPIL1jH7l4HggGefNqvPA130_assertion description "[COX-2 is induced in retinal astrocytes in human diabetic retinopathy, in the murine and rat model of ischemic proliferative retinopathy in vivo, and in hypoxic astrocytes in vitro/but not COX-1 inhibitors prevented intravitreal neovascularization ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146514.RAU7LrSNI3jqWgzAST8WJAn1rPIL1jH7l4HggGefNqvPA130_provenance.
NP146520.RAZBaLa_vEKPlV_jLnSiOVLrC4nbysboEDQkkFxOhzq-8130_assertion description "[results suggest that MCP-1, under the regulation of NF-kappaB, is involved in the pathogenesis of proliferative diabetic retinopathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146520.RAZBaLa_vEKPlV_jLnSiOVLrC4nbysboEDQkkFxOhzq-8130_provenance.
NP146528.RAdRbq6okE5BYdk44IBuBVm6F_rTqwChG--Xojy5MB2Bw130_assertion description "[No association betwween -429T/C and -37T/A polymorphism in RAGE gene promoter with diabetic retinopathy in NIDDM in Chinese patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146528.RAdRbq6okE5BYdk44IBuBVm6F_rTqwChG--Xojy5MB2Bw130_provenance.
NP146530.RAa5xSTdW_DUoItbqS7Ch9rrFOEcGM2qKkS1SMSoLyWw0130_assertion description "[There is an association of Gly82Ser polymorphism in this gene with diabetic retinopathy in type II diabetic Asian Indian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146530.RAa5xSTdW_DUoItbqS7Ch9rrFOEcGM2qKkS1SMSoLyWw0130_provenance.
NP146535.RAbyDQW4brS8iaJJ9lNxd1u3hsR-T4EUMcxeVfCS0feIU130_assertion description "[Polymorphic variants in the IL12B gene is associated with leprosy and tuberculosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146535.RAbyDQW4brS8iaJJ9lNxd1u3hsR-T4EUMcxeVfCS0feIU130_provenance.
NP146540.RAUZzbdfDE6jnBjX5U9mCUmnHQig0YBTlYKfjc1uOItv4130_assertion description "[Since rab3a participates in the docking and fusion of synaptic vesicles, and rabsa binding to alpha-synuclein is increased in Lewy body disease (LBD), it can be suggested that exocytosis of neurotransmitters may be impaired in LBD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146540.RAUZzbdfDE6jnBjX5U9mCUmnHQig0YBTlYKfjc1uOItv4130_provenance.
NP146541.RAZ5YUChL6R9MdTqXdRZbQCytHJO-wNOeoBqGd2emo6kk130_assertion description "[Although SNCA multiplication is a rare cause of Parkinson disease & Lewy body dementia, this study suggests other genetic variation in the SNCA gene, in trans-acting factors, & in post-transcriptional regulatory elements are likely to influence disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146541.RAZ5YUChL6R9MdTqXdRZbQCytHJO-wNOeoBqGd2emo6kk130_provenance.
NP146542.RAeO7eOD8WhwfGcoD7qQJfUmhXrBl_as2vm_aTcDkuw58130_assertion description "[We report here a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene/accumbens and limbic areas of the cerebral cortex showed vacuolation, with clustering of microvacuoles around Lewy neurites.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146542.RAeO7eOD8WhwfGcoD7qQJfUmhXrBl_as2vm_aTcDkuw58130_provenance.
NP146544.RAQqWKWT9PvF1AT9pov4yzlVmCOSLzjqQZYdZXVtU7Fxc130_assertion description "[In cases of Lewy body disease (LBD), alpha-synuclein does not exhibit binding to rabphilin but rather to rab3a, suggesting possible impairment of neurotransmitter exocytosis in LBD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146544.RAQqWKWT9PvF1AT9pov4yzlVmCOSLzjqQZYdZXVtU7Fxc130_provenance.
NP146547.RAbPgL68DlSIVDkcIL55OJzzAHCxP3la5kFQ3EWScbSuc130_assertion description "[Alpha-Synucleinopathy is common in older people, and frequently associated with Alzheimer disease-type pathology/unexpectedly high proportion with a cortical form of Lewy body disease was identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146547.RAbPgL68DlSIVDkcIL55OJzzAHCxP3la5kFQ3EWScbSuc130_provenance.
NP146548.RAdUR946gRSq1SzeCnumFH0AvRCQHMdij322nGqN5KiZc130_assertion description "[In the homozygous and heterozygous states, GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease, mostly of the akinetic type, to a less common phenotype characteristic of Lewy body dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146548.RAdUR946gRSq1SzeCnumFH0AvRCQHMdij322nGqN5KiZc130_provenance.
NP146549.RASbFgoBfTvJZu8plYHs3r0ixfOyIg-6nCp2WkahpTnM8130_assertion description "[parkin is S-nitrosylated in vitro, as well as in vivo in brains of patients with Parkinson's disease and diffuse Lewy body disease; S-nitrosylation inhibits parkin's ubiquitin E3 ligase activity and its protective function ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146549.RASbFgoBfTvJZu8plYHs3r0ixfOyIg-6nCp2WkahpTnM8130_provenance.
NP146550.RAR4KB2iRo4_vx8YJIJGIgLiogLHOUKA0f0hZicQzFHiU130_assertion description "[Lrrk2 G2019S was observed in approximately 2% (n = 8) of Parkinson's disease/Lewy body disease cases (n = 405).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146550.RAR4KB2iRo4_vx8YJIJGIgLiogLHOUKA0f0hZicQzFHiU130_provenance.
NP146551.RAbTnYy4IhVYeaxB6tzIAs1WmogPQBU9dTMrWFRLtmjFM130_assertion description "[The common heterozygous NI6P is associated with an increased risk of Parkinson disease and an association of borderline significance was found for the homozygous NI6P and diffuse Lewy body disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146551.RAbTnYy4IhVYeaxB6tzIAs1WmogPQBU9dTMrWFRLtmjFM130_provenance.
NP146558.RAVkedG0MmA9iULPpQimMrZWzwPw9wl8DZTZ4SKGoziZQ130_assertion description "[APOE epsilon4+ (epsilon4+/epsilon4 + or epsilon4+/epsilon4-) genotype is more frequent in Alzheimer disease and Lewy body dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146558.RAVkedG0MmA9iULPpQimMrZWzwPw9wl8DZTZ4SKGoziZQ130_provenance.
NP146574.RAd23OdAfVnKidW856r8KdP76xGhs3SoWjBN8Qwvc1LHo130_assertion description "[Non-coding mutations in RET have important roles in the development of Hirschsprung's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146574.RAd23OdAfVnKidW856r8KdP76xGhs3SoWjBN8Qwvc1LHo130_provenance.
NP146578.RAZVEjPtRVYL_CpB_jGxmnv1CcL1D4AjHeFFabBzc0V3E130_assertion description "[Substantial discrimination between predicted functional classes of RET mutations and disease severity even for a multigenic disease such as Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146578.RAZVEjPtRVYL_CpB_jGxmnv1CcL1D4AjHeFFabBzc0V3E130_provenance.
NP146584.RAXJ9OKg_o7OkEvxg02emoCvr1SmVt0ZeviXYVAbZyiuI130_assertion description "[These data highlight the pivotal role of the RET gene in both isolated and syndromic Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146584.RAXJ9OKg_o7OkEvxg02emoCvr1SmVt0ZeviXYVAbZyiuI130_provenance.
NP146585.RAfcGnQk5Zew0xZyZIs8OaCP4DenAsEaHPO6AulyybPt4130_assertion description "[relationship between RET oncogene and Chinese patients with Hirschsprung's disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146585.RAfcGnQk5Zew0xZyZIs8OaCP4DenAsEaHPO6AulyybPt4130_provenance.
NP146586.RAXpEu4sHnmbifSnANBBCs0KY8hVUag5dewFOTzcwN9Q4130_assertion description "[All Ret dominant-negative/+ mice died by 1 month of age and had distal intestinal aganglionosis reminiscent of Hirschsprung disease (HSCR) in humans ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146586.RAXpEu4sHnmbifSnANBBCs0KY8hVUag5dewFOTzcwN9Q4130_provenance.
NP146589.RAfXJB6ULhk5d-rYZ7CC9_5sqVEJ3Jj635uC-NcOpQD2A130_assertion description "[In conclusion, Multiplex Ligation-dependent Probe Amplification assessment of rearrangements in the RET proto-oncogene and in 3 other associated genes, ZEB2, EDN3 and GDNF did not show any variants in 80 sporadic Hirschsprung disease patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146589.RAfXJB6ULhk5d-rYZ7CC9_5sqVEJ3Jj635uC-NcOpQD2A130_provenance.
NP146593.RAZXxW4O_UA4fv0ssdMslNkS6Cx1z6BhELnBbPGcD2Vio130_assertion description "[A SOX10 " de novo " splice site mutation (c.698-2A > C) was identified in a severe type 4 Waardenburg syndrome without Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146593.RAZXxW4O_UA4fv0ssdMslNkS6Cx1z6BhELnBbPGcD2Vio130_provenance.
NP146595.RARnl1It3meeKgvYw_dpRLQMrRHUT8P9h0mlsUEEg71HM130_assertion description "[A de novo t (4; 8) (p13; p22) translocation in a girl with Hirschsprung's disease contained a 4p12p13 deletion affecting the PMX2B gene/haploinsuffciency might predispose to HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146595.RARnl1It3meeKgvYw_dpRLQMrRHUT8P9h0mlsUEEg71HM130_provenance.
NP146597.RARaIJV-acMWNnDMEaDg_xML6T4MtTI632fldIOVCNg3w130_assertion description "[Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations ? ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146597.RARaIJV-acMWNnDMEaDg_xML6T4MtTI632fldIOVCNg3w130_provenance.
NP146603.RASEIdwoaGdQfPQhvid4LXIWeYlC69jXJUMPlAzP6mqSk130_assertion description "[the effect of mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on functional activity and membrane expression of the transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146603.RASEIdwoaGdQfPQhvid4LXIWeYlC69jXJUMPlAzP6mqSk130_provenance.
NP146607.RAdOhvLhDkh267mTyZChTzNcxHcE-_lAFIEOfZL-W4AqY130_assertion description "[This review summarizes recent data on the biological function of amnionless and focuses on its implication in embryonic nutrition and central nervous system malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146607.RAdOhvLhDkh267mTyZChTzNcxHcE-_lAFIEOfZL-W4AqY130_provenance.
NP146618.RAV3hUqEIGrbhBPXF1XDq9DjGARUDuwtxoaknK4oq7Tgs130_assertion description "[the TaqIA1 allele of the dopamine receptor gene D2 has been associated with alcoholism, as well as with other addictive behaviours ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146618.RAV3hUqEIGrbhBPXF1XDq9DjGARUDuwtxoaknK4oq7Tgs130_provenance.
NP146621.RAQuRB9hGk1no00v0m5hxcxeXt5ntxAQNJqDhs0rHgDNM130_assertion description "[This study did not find alterations in measures of 5-HT (1A) levels in patients with type II alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146621.RAQuRB9hGk1no00v0m5hxcxeXt5ntxAQNJqDhs0rHgDNM130_provenance.
NP146623.RAbArkF2IKtYjBaVgzeMlFQZdGeFalRzH10SLh55miYn0130_assertion description "[This documents the presence of a polymorphism of CYP2E1 that is overexpressed in alcoholic Otomies, in which the variant allele (A1 of CYP2E1/TaqI) is associated with increased susceptibility to alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146623.RAbArkF2IKtYjBaVgzeMlFQZdGeFalRzH10SLh55miYn0130_provenance.
NP146624.RAXhlE8Yg2axIB3zKT3WrLMTqInF5HmRMOxkDgfbUXI50130_assertion description "[This study did not find alterations in measures of 5-HT transporter levels in patients with type II alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146624.RAXhlE8Yg2axIB3zKT3WrLMTqInF5HmRMOxkDgfbUXI50130_provenance.
NP146629.RAbRHO4stiFkXh5hTlRoEHUybYiEqoJ9qe-_rZ2l2GEzU130_assertion description "[study found a significant difference in the +529A/T (rs8192503) polymorphism allele frequency of the DBI gene between the alcoholics & controls; data suggest that mutation allele of the DBI gene polymorphism was one of the risk factors for alcoholism ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146629.RAbRHO4stiFkXh5hTlRoEHUybYiEqoJ9qe-_rZ2l2GEzU130_provenance.
NP146630.RAfrZe0SjuOs1_iXX7F7KWBQ_j4PMIcFgqYkHUKiHXLmA130_assertion description "[may contribute to susceptibility to alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146630.RAfrZe0SjuOs1_iXX7F7KWBQ_j4PMIcFgqYkHUKiHXLmA130_provenance.
NP146633.RAZBGvPUXJfmIh9jRDzeLKHWSo53eM2nSPYXNcYN4K-mk130_assertion description "[Patients with chronic alcoholism (PCA) of stage II have increased glutathione reductase (GR) activity in neutrophils, lymphocytes and monocytes compared with that in the cells of healthy donors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146633.RAZBGvPUXJfmIh9jRDzeLKHWSo53eM2nSPYXNcYN4K-mk130_provenance.
NP146634.RAZzfp8f_sQxIYqVde2ZBkuiK7l2TRneK9Qm_mDw8ysuk130_assertion description "[Variants in NMDAR genes are associated with alcoholism and related traits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146634.RAZzfp8f_sQxIYqVde2ZBkuiK7l2TRneK9Qm_mDw8ysuk130_provenance.
NP146636.RAQ5rFCpqb4FJ9f-iNszdiJpXyWuqITBaczzLUT8F9X_g130_assertion description "[Variants in NMDAR genes are associated with alcoholism and related traits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146636.RAQ5rFCpqb4FJ9f-iNszdiJpXyWuqITBaczzLUT8F9X_g130_provenance.
NP146641.RAU8KcQ3kuwX-wHwZubfmUVw6bzteFsuR9oPLFX4eI0xo130_assertion description "[The frequency of the fVL mutation was significantly higher in cerebral palsy population than the expected population frequency of 4% in the study group (10.5%, p = 0.012) and in mothers of the control group (7.2%, p = 0.036) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146641.RAU8KcQ3kuwX-wHwZubfmUVw6bzteFsuR9oPLFX4eI0xo130_provenance.
NP146642.RAW2WTHguU7-LV3Ls120weP2ftt_dRt7ZcnXe00UdwfTY130_assertion description "[we found a higher percentage of fibers expressing fast MyHC IIx in tetraplegic cerebral palsy { NEWENTRY } --MyHC IIX ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146642.RAW2WTHguU7-LV3Ls120weP2ftt_dRt7ZcnXe00UdwfTY130_provenance.
NP146647.RAa6oQKjfYtPFybz9ssL3w-DmeddLJQO8NTGqguHaKJ1E130_assertion description "[Decreased activities of erythrocyte glutathione reductase is associated with cerebral palsy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146647.RAa6oQKjfYtPFybz9ssL3w-DmeddLJQO8NTGqguHaKJ1E130_provenance.
NP146652.RAfHFwNHx13WSVmoxmM5_lLbfSr-DkwvvMepoNhSz0IZE130_assertion description "[The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146652.RAfHFwNHx13WSVmoxmM5_lLbfSr-DkwvvMepoNhSz0IZE130_provenance.
NP146653.RARx4Qy8X6juzv43UqxSUWRjz0h_oWd_75THZpTIIqD5Y130_assertion description "[This study establishes a firm causal relationship between the Arg455His mutation, optic atrophy, and associated hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146653.RARx4Qy8X6juzv43UqxSUWRjz0h_oWd_75THZpTIIqD5Y130_provenance.
NP146661.RAbO-PebQOP3QDiFpb7bYQUqrEhSAU-kYSwIFiHEYnnc0130_assertion description "[Dominant optic atrophy (DOA) is characterized by retinal ganglion cell degeneration leading to optic neuropathy/subset of DOA is caused by mutations in the OPA1 gene, encoding for a dynamin-related GTPase required for mitochondrial fusion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146661.RAbO-PebQOP3QDiFpb7bYQUqrEhSAU-kYSwIFiHEYnnc0130_provenance.
NP146663.RAcxKnKteQ0MZ1-34I28JcxM2Kc2kKU83bOvG61lg0tZg130_assertion description "[These findings expand the spectrum of OPA1 mutations and further established the role of OPA1 gene in Chinese patients with autosomal dominant optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146663.RAcxKnKteQ0MZ1-34I28JcxM2Kc2kKU83bOvG61lg0tZg130_provenance.
NP146669.RARsI56Wc_iXDKulw34im13hSnYfObiHVeeyU9mZJULQ0130_assertion description "[A novel mutation of the OPA1 gene was detected in a Japanese patient with autosomal dominant optic atrophy (ADOA) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146669.RARsI56Wc_iXDKulw34im13hSnYfObiHVeeyU9mZJULQ0130_provenance.
NP146671.RAcIcJ5K3hZ14C2DBuajKJ30y7-P3LtFy22guk8fkGdZk130_assertion description "[The OPA1 mutation may be correlated with slow progression of autosomal dominant optic atrophy (DOA), and with phenotypic variations within the family ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146671.RAcIcJ5K3hZ14C2DBuajKJ30y7-P3LtFy22guk8fkGdZk130_provenance.
NP146675.RAYH8XG6WmBX1vREQUc8iPWYDKsHZ75MyO5ZZQ4E7laeU130_assertion description "[Zic2 is an evolutionarily conserved determinant of retinal ganglion cells that project ipsilaterally ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146675.RAYH8XG6WmBX1vREQUc8iPWYDKsHZ75MyO5ZZQ4E7laeU130_provenance.
NP146677.RAeILWCX2qLsOqBeczeMxNSZFcxt5CLAmCjNBbDAk_isI130_assertion description "[Reverse transcriptase-polymerase chain reaction analysis revealed mRNA the ETB receptor subtype in the human trigeminal ganglion/revealed numerous cell bodies containing ETB proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146677.RAeILWCX2qLsOqBeczeMxNSZFcxt5CLAmCjNBbDAk_isI130_provenance.
NP146678.RAQ_p6anQ3Ap7DNcisKlX5qBR47UcATXk9JshbhjUpZQM130_assertion description "[Reverse transcriptase-polymerase chain reaction analysis revealed mRNA the ETA receptor subtype in the human trigeminal ganglion/revealed numerous cell bodies containing ETA proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146678.RAQ_p6anQ3Ap7DNcisKlX5qBR47UcATXk9JshbhjUpZQM130_provenance.
NP146680.RAfI-IBq3SQJ5uGchvcayVfraFzQJyGGB7zPQgYkaSEvg130_assertion description "[member of the vanilloid channel family that is expressed in skin, tongue, dorsal root ganglion, trigeminal ganglion, spinal cord and brain; a calcium-permeable temperature-sensitive cation channel ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146680.RAfI-IBq3SQJ5uGchvcayVfraFzQJyGGB7zPQgYkaSEvg130_provenance.
NP146690.RAfOc4jkJT5NrBFBnjzOOSFyt3IFtbbMBR2mUPO3UdGIw130_assertion description "[Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146690.RAfOc4jkJT5NrBFBnjzOOSFyt3IFtbbMBR2mUPO3UdGIw130_provenance.
NP146696.RAa9ALgi95MyvGXcxAq5eLuQOdCZqr9K_ritAcGl9lXM8130_assertion description "[Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146696.RAa9ALgi95MyvGXcxAq5eLuQOdCZqr9K_ritAcGl9lXM8130_provenance.
NP146697.RAdTfOTykOvoJV3o3WTia6hKJspNW1NnxruzAUs8d1N5A130_assertion description "[we report the novel implication of specific mis-sense mutations in the OPA1 gene in the maintenance of mtDNA integrity and the association with optic atrophy'plus'syndromes, similar to classic mitochondrial encephalomyopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146697.RAdTfOTykOvoJV3o3WTia6hKJspNW1NnxruzAUs8d1N5A130_provenance.
NP146705.RAcNCqxAL5TKP-o5KzPisEede_rEkFiUUjJ-fN7656hLE130_assertion description "[Combined expression of DLG7 and PINK1 was the best predictor of disease free survival in malignant adrenal cortex neoplasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146705.RAcNCqxAL5TKP-o5KzPisEede_rEkFiUUjJ-fN7656hLE130_provenance.
NP146706.RAUEIWWLSxS6Wo4OStK5EV-NzzPYRXu5jjaSQpb5BLEUA130_assertion description "[The expression pattern of c-mpl in megakaryocytes correlates with thrombotic risk in essential thrombocythemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146706.RAUEIWWLSxS6Wo4OStK5EV-NzzPYRXu5jjaSQpb5BLEUA130_provenance.
NP146707.RAR5pTZbbf35ccyYu35tbgiRGLvH7Rv5xzFgsqubkJRTg130_assertion description "[expressed in megakaryocytes in essential thrombocythemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146707.RAR5pTZbbf35ccyYu35tbgiRGLvH7Rv5xzFgsqubkJRTg130_provenance.
NP146712.RAdQAJV6a3Ip0-Vxz-gD6dkGl_qPnSTwuwfB3ZG9a170w130_assertion description "[study concludes that JAK2 617V > F homozygosity identifies polycythemia vera or essential thrombocythemia (ET) patients with a more symptomatic myeloproliferative disorder & is associated with a higher risk of major cardiovascular events in patients with ET ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146712.RAdQAJV6a3Ip0-Vxz-gD6dkGl_qPnSTwuwfB3ZG9a170w130_provenance.
NP146713.RAU-v4fPchPdE9KNYhh-YIBYOwOJIcISt2qekp3uNZfwo130_assertion description "[presence of JAK2 V617F in all myeloid cells in essential thrombocythemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146713.RAU-v4fPchPdE9KNYhh-YIBYOwOJIcISt2qekp3uNZfwo130_provenance.
NP146729.RAR0gnaKIwlRP5cVJTSrEU3nBGrBbJs_LKHGh3rOGizE0130_assertion description "[bcr-abl transcript can be detected in the PBLs of Philadelphia chromosome (Ph) -negative essential thrombocythemia but the level of expression is markedly less than that in CML ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146729.RAR0gnaKIwlRP5cVJTSrEU3nBGrBbJs_LKHGh3rOGizE0130_provenance.
NP146736.RASWxKf8E9jCtA9fzbAAeUwF6TrGphOCsqtlb2WqymU1o130_assertion description "[JAK2V617F levels decline during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146736.RASWxKf8E9jCtA9fzbAAeUwF6TrGphOCsqtlb2WqymU1o130_provenance.
NP146737.RAdgz9kSpfPr1Ttkhlkb8uz6Jqej05UfWmhmFZ8-_2fNA130_assertion description "[bcr-abl transcript can be detected in the PBLs of Philadelphia chromosome (Ph) -negative essential thrombocythemia but the level of expression is markedly less than that in CML ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146737.RAdgz9kSpfPr1Ttkhlkb8uz6Jqej05UfWmhmFZ8-_2fNA130_provenance.
NP146741.RAewulb9mxOJmazCaquAtieLKUgMgC30No3WDyUYhEJhE130_assertion description "[JAK2 (V617F) is a risk factor for thrombosis in essential thrombocythemia/link may exist between leukocytosis, JAK2 (V617F), & the hemostatic system activation in patients with Bcl-negative myeloproliferative disorders/. ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146741.RAewulb9mxOJmazCaquAtieLKUgMgC30No3WDyUYhEJhE130_provenance.
NP146745.RAQhzXQYc2hLy_QXL-NYkdJvUHPsJOeGmzrSkNKOyhdPc130_assertion description "[The JAK2V617F mutation was noted in a certain population of ET patients and correlated with leukocytosis, high hemoglobin level, and thrombosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146745.RAQhzXQYc2hLy_QXL-NYkdJvUHPsJOeGmzrSkNKOyhdPc130_provenance.
NP146746.RASq6jYpHnf0Gjmxga87od1Hs6wF-22GNWHo6IiCSORAk130_assertion description "[presence of JAK2 V617F was not identified as a risk factor for thrombosis during follow-up despite a significant association between the mutation and leukocytosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146746.RASq6jYpHnf0Gjmxga87od1Hs6wF-22GNWHo6IiCSORAk130_provenance.
NP146749.RAX2EwULzSgdW07uWQKFzGMpDTgNscgQJJUiqK4aTbDhM130_assertion description "[The JAK2 (Janus kinase 2) V617K mutation was found in 6 of 12 patients with refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with platelet counts 500 x 10 (9)/l ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146749.RAX2EwULzSgdW07uWQKFzGMpDTgNscgQJJUiqK4aTbDhM130_provenance.
NP146752.RAe20zx7kEBVNTmwy1A27ArSSOCZRF6zA2aOMHeBbfvAw130_assertion description "[results confirm that TPO acts as an acute phase protein but exclude the possibility that it is uniquely responsible for thrombocytosis of inflammatory disorders, which might recognize in IL-6 a credible candidate as a cooperating factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146752.RAe20zx7kEBVNTmwy1A27ArSSOCZRF6zA2aOMHeBbfvAw130_provenance.
NP146755.RAZT9bf63j-MwUoKTw9FNB2e9o3XEzmF1BpW6Hn1enPqg130_assertion description "[K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146755.RAZT9bf63j-MwUoKTw9FNB2e9o3XEzmF1BpW6Hn1enPqg130_provenance.
NP146756.RAQam96Bvm-FX8xOTeKff_jSBwoBNnWPuTNugVEzm1NGI130_assertion description "[MPL gene mutations were not associated with erythrocytosis, but segregated primarily with the phenotypes of thrombocytosis, extramedullary disease, myelofibrosis, and osteosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146756.RAQam96Bvm-FX8xOTeKff_jSBwoBNnWPuTNugVEzm1NGI130_provenance.
NP146757.RAcZ6NWnX5mUBB6kwN9V3GpooT9UHTUGB-Eq_A48WQsBE130_assertion description "[Increased serum TPO levels in patients with thrombocytosis in lung cancer which may be related to the activity of neoplasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146757.RAcZ6NWnX5mUBB6kwN9V3GpooT9UHTUGB-Eq_A48WQsBE130_provenance.
NP146760.RAax-mUrNR8xmv1hboT-EpZUg1fhmPrDETNZB4XHphlqQ130_assertion description "[JAK2 and MPL mutations in polycythemia vera, essential thrombocytosis, and primary myelofibrosis [review]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146760.RAax-mUrNR8xmv1hboT-EpZUg1fhmPrDETNZB4XHphlqQ130_provenance.
NP146761.RAQpssFBmyWPLJ-xYOESutGnQK7JzNk3ddlsGeSmvuC6w130_assertion description "[The JAK2 (Janus kinase 2) V617K mutation was found in 6 of 12 patients with refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with platelet counts 500 x 10 (9)/l ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146761.RAQpssFBmyWPLJ-xYOESutGnQK7JzNk3ddlsGeSmvuC6w130_provenance.
NP146768.RAeGgAF1gUr3Tsbhch-ExKpHKWPR0oIoVI7GgC8Jcb3D0130_assertion description "[expression of TPO receptor on platelets until 1 month after birth cause a decreased TPO clearance and keep a high level of free TPO in blood, resulting in the subsequent thrombocytosis in preterm infants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146768.RAeGgAF1gUr3Tsbhch-ExKpHKWPR0oIoVI7GgC8Jcb3D0130_provenance.
NP146771.RAfWWXQ6mQZJxGCCeImqwjPjqVU2IMN85_0uSIEdsbBI0130_assertion description "[Altered regulation of the TPO gene might be involved in the pathogenesis of familial thrombocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146771.RAfWWXQ6mQZJxGCCeImqwjPjqVU2IMN85_0uSIEdsbBI0130_provenance.
NP146774.RAbpDwwZGo3N1SIjqlMHBpZsEUj-1e2YM0xsdmueuB5os130_assertion description "[Thrombopoietin levels are increased in patients with severe acute respiratory syndrome; TPO may have a role in thrombocytosis, which frequently develops from thrombocytopenia in SARS patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146774.RAbpDwwZGo3N1SIjqlMHBpZsEUj-1e2YM0xsdmueuB5os130_provenance.
NP146777.RAfeyGMc_pUFoTvqZDS-SY3f6R35iK2hgDYwwOXhRuDas130_assertion description "[JAK2 Val617Phe activating tyrosine kinase mutation is associated with juvenile myelomonocytic leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146777.RAfeyGMc_pUFoTvqZDS-SY3f6R35iK2hgDYwwOXhRuDas130_provenance.
NP146779.RAaLfMEiS9RzP_A2MZfUHslBQaQnGJe68YrbSPnQq2KjA130_assertion description "[Mutation of AML1 gene is associated with pediatric primary myelodysplastic syndrome and juvenile myelomonocytic leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146779.RAaLfMEiS9RzP_A2MZfUHslBQaQnGJe68YrbSPnQq2KjA130_provenance.
NP146787.RAWMjM35b-O4M5lxBdQiHA0WvsldRS7z5mLhe4AQMZUYw130_assertion description "[virtual Northern blots to analyze expression of NACA and ANX2 in progenitor cultures of nine children with Juvenile myelomonocytic leukemia and five healthy individuals ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146787.RAWMjM35b-O4M5lxBdQiHA0WvsldRS7z5mLhe4AQMZUYw130_provenance.
NP146799.RATjUIHrXGlXozygl7dUAEzrz-uAKdp8EVgI-q0g2ERWI130_assertion description "[Mutations in MPL is associated with congenital amegakaryocytic thrombocytopenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146799.RATjUIHrXGlXozygl7dUAEzrz-uAKdp8EVgI-q0g2ERWI130_provenance.
NP146800.RASCXb24cCpOCLxqEQq8vIOFBeGXrmWF1jP5HKETGtSXs130_assertion description "[analysis of MPL mutations in patients suffering from congenital amegakaryocytic thrombocytopenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146800.RASCXb24cCpOCLxqEQq8vIOFBeGXrmWF1jP5HKETGtSXs130_provenance.
NP146801.RAWLbPCQ6oKUWiawHg4sFuuZP8u7RaXIuwJK4cPGMn8t0130_assertion description "[a C-terminal AML1 mutation leads to a decrease in Mpl receptor expression in familial thrombocytopenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146801.RAWLbPCQ6oKUWiawHg4sFuuZP8u7RaXIuwJK4cPGMn8t0130_provenance.
NP146804.RAb9Xh1efAY92W9ssj8MZtt7AJY_YVEBCwNhG7o-pqAEU130_assertion description "[c-mpl mutations are the cause not only for the hypomegakaryocytic thrombocytopenia, but also for the development of an aplastic anemia (AA) in patients with CAMT ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146804.RAb9Xh1efAY92W9ssj8MZtt7AJY_YVEBCwNhG7o-pqAEU130_provenance.
NP146805.RAfIYFBBaoWgJZ1jPp3HI2hUMB4ue2qdJEMclageG8Dt8130_assertion description "[JAK2 V617F mutation that has been associated with 50% of sporadic cases of essential thrombocytopenia was identified as a somatic mutation, an acquired defect, in peripheral blood of the two most severely affected family members ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146805.RAfIYFBBaoWgJZ1jPp3HI2hUMB4ue2qdJEMclageG8Dt8130_provenance.
NP146810.RAdT1EYZnr1siH88p_39HaY4sp-GqRCNoHupiRMjZAjek130_assertion description "[Two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as havingX-linked thrombocytopenia and Wiskott-Aldrich syndrome, were identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146810.RAdT1EYZnr1siH88p_39HaY4sp-GqRCNoHupiRMjZAjek130_provenance.
NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion description "[study found 28 novel WAS mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.
NP146814.RAUUoDUYs0VbVtr-PYjZt64o6_q9hjcWccSSVPb0YooaA130_assertion description "[X-linked thrombocytopenia caused by a mutation in the WAS gene that disrupts interaction with the (WASP) -interacting protein (WIP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146814.RAUUoDUYs0VbVtr-PYjZt64o6_q9hjcWccSSVPb0YooaA130_provenance.
NP146816.RAWJRImOOUpkSsHxu5ym7CdTFOH6YtXmuU-gj9bK2qtsw130_assertion description "[study describes the second family with a GATA1G208R allele causing congenital dyserythropoietic anemia and thrombocytopenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146816.RAWJRImOOUpkSsHxu5ym7CdTFOH6YtXmuU-gj9bK2qtsw130_provenance.
NP146818.RASv3Dbe190JaJpAXsdgfSpRxDSu1D6Nt1BsuZkzi9zgw130_assertion description "[disorder derived from GATA1 Arg216Gln mutation is X-linked thrombocytopenia with thalassemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146818.RASv3Dbe190JaJpAXsdgfSpRxDSu1D6Nt1BsuZkzi9zgw130_provenance.
NP146819.RAaquPHEd-6jNlpnDUX7RWCaTB8WjIbtCmQd1e2uCUc20130_assertion description "[significant correlations between wild-type AA MBL2 genotype and age as associated risk factors for development of dengue-related thrombocytopenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146819.RAaquPHEd-6jNlpnDUX7RWCaTB8WjIbtCmQd1e2uCUc20130_provenance.
NP146820.RAdqpApsF6kY4R6bQ-X8cYP3KBnxBlVD3FuWJJMfg8zvc130_assertion description "[ADAMTS-13 deficiency may play a role in the development of sepsis-associated thrombocytopenia and organ failure ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146820.RAdqpApsF6kY4R6bQ-X8cYP3KBnxBlVD3FuWJJMfg8zvc130_provenance.
NP146824.RAcFC8hYk2-TqiN-pM4EjGKWRfP2KNbqRkwfwxmvlDEac130_assertion description "[X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affects DNA binding but does not affect FOG-1 interaction.(FOG1, cofactor of GATA1) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146824.RAcFC8hYk2-TqiN-pM4EjGKWRfP2KNbqRkwfwxmvlDEac130_provenance.
NP146825.RASZCV0CXB-FPLi4rzqHF1LcmSGo26QkJGw90U1ESCsjU130_assertion description "[Functional promoter haplotypes of FAS are associated with the phenotype of SLE characterized by thrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146825.RASZCV0CXB-FPLi4rzqHF1LcmSGo26QkJGw90U1ESCsjU130_provenance.
NP146827.RAdMQqFxmAoazKWbvgq4-tnJrdumSWdoJ-s1BHB4oErx8130_assertion description "[results suggest that one mechanism of thrombocytopenia in patients with cGVHD is low TPO production by BM cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146827.RAdMQqFxmAoazKWbvgq4-tnJrdumSWdoJ-s1BHB4oErx8130_provenance.

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