Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP134981.RAf17F0mIbWWgeyytGZic2DWwrEigL2kKO9hcVTiPBZbE130_assertion description "[We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel (p.R357P) mutation in the hot-spot linker region of the twinkle protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134981.RAf17F0mIbWWgeyytGZic2DWwrEigL2kKO9hcVTiPBZbE130_provenance.
- NP134982.RAd9z_F7JZWNdY2VNmPu3cePJ8RU1X9MUa1jgwHtvPEjU130_assertion description "[Missense mutations of ACTA1 cause an autosomal dominant congenital myopathy with cores.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134982.RAd9z_F7JZWNdY2VNmPu3cePJ8RU1X9MUa1jgwHtvPEjU130_provenance.
- NP134985.RAXqXAnORCl69FGG_pST76nueI1uMgikMa8lHXBE2hSlo130_assertion description "[deficiency causes a new congenital disorder of glycosylation (CDG), designated type IId (CDG-IId), a severe neurologic disease characterized by hydrocephalus, myopathy, and blood-clotting defects ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134985.RAXqXAnORCl69FGG_pST76nueI1uMgikMa8lHXBE2hSlo130_provenance.
- NP134987.RAU-gmMlI41ZuYEXOTvNnoL7fiYeUPGi-Gu6YBtFmrYy8130_assertion description "[These observations indicate that calpain is activated and reacts with alpha-fodrin as a substrate at the sarcolemma, and plays a key role in modulating sarcolemmal proteins to adapt to the specific conditions in each myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134987.RAU-gmMlI41ZuYEXOTvNnoL7fiYeUPGi-Gu6YBtFmrYy8130_provenance.
- NP134990.RAdMvE_HiLlvdAYeR9UwGkIi47s1rVCLszimI5OHywd-k130_assertion description "[Frontotemporal dementia with inclusion body myopathy and Paget's disease of bone (IBMPFD) is a rare, autosomal dominant disorder caused by mutations in the gene valosin-containing protein (VCP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134990.RAdMvE_HiLlvdAYeR9UwGkIi47s1rVCLszimI5OHywd-k130_provenance.
- NP134992.RAR61M7cMQnPXeSO_8BiIlR6niGRJBgyNI8X_cEW0YzLo130_assertion description "[We identified a novel missense mutation in the VCP gene segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP134992.RAR61M7cMQnPXeSO_8BiIlR6niGRJBgyNI8X_cEW0YzLo130_provenance.
- NP135003.RARKQ-PIr6L8NTnw2ZaXXN2ZPsM6YHObHBFzLhRWvnu-4130_assertion description "[Intron mutation in the ISCU gene, leading to incorrectly spliced mRNA, is the cause of myopathy with lactic acidosis in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135003.RARKQ-PIr6L8NTnw2ZaXXN2ZPsM6YHObHBFzLhRWvnu-4130_provenance.
- NP135007.RAd8Pv4plOzmla579XdSe9hN4xxqLnkOrhZwwHO4snX-o130_assertion description "[LGMD2B mutational analysis in Miyoshi myopathy, and atypical dysferlinopathies ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135007.RAd8Pv4plOzmla579XdSe9hN4xxqLnkOrhZwwHO4snX-o130_provenance.
- NP135008.RAbEnxHXa3gfpLiQNABLwUGuApxKaO62PiBvWfjKKj1CQ130_assertion description "[the phenotypic spectrum of ALS associated with SOD1 (G72C) mutations to include presenting features that mimic a myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135008.RAbEnxHXa3gfpLiQNABLwUGuApxKaO62PiBvWfjKKj1CQ130_provenance.
- NP135012.RAT_3QruuLHKMMFb-mi8skZT90f3gpYH6hbyLL50v4UCE130_assertion description "[a mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135012.RAT_3QruuLHKMMFb-mi8skZT90f3gpYH6hbyLL50v4UCE130_provenance.
- NP135013.RAcLXAXC9Ad_G6b5mqCu01hlFhQsxxNVcmfaeQPqiv54g130_assertion description "[Mutations in mtDNA-encoded cytochrome c oxidase subunit II genes causing isolated myopathy or severe encephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135013.RAcLXAXC9Ad_G6b5mqCu01hlFhQsxxNVcmfaeQPqiv54g130_provenance.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion description "[The c.319C > T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition/should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.
- NP135026.RAX675__mhJB1Iy3Ldw8eRiZaZQ14briWbfSwQEHcNGHA130_assertion description "[A truncating mutation in the C-terminal region of alphaB-crystallin was determined in 2 patients with adult-onset myofibrillar myopathy; the region is crucial for the solubilization and chaperone functions of the molecule.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135026.RAX675__mhJB1Iy3Ldw8eRiZaZQ14briWbfSwQEHcNGHA130_provenance.
- NP135032.RAaEc5_WwnuMe6EUDYxAtsX_QreBdxdGON-5FhL7eRFnY130_assertion description "[Plays a role in insulin resistance and suggests that animals with overexpression of human PC-1 in liver may be interesting models to investigate insulin resistance and glucose intolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135032.RAaEc5_WwnuMe6EUDYxAtsX_QreBdxdGON-5FhL7eRFnY130_provenance.
- NP135033.RAY41e2b1O5QsQy2O3f2YwKamcpIhbMpRbDl6OeVLpzeI130_assertion description "[Polymorphisms are associated with adiposity and also with glucose metabolism and conversion from glucose intolerance to type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135033.RAY41e2b1O5QsQy2O3f2YwKamcpIhbMpRbDl6OeVLpzeI130_provenance.
- NP135034.RAd0g8OuxKMM26849bj0s4NcLt7Fl1uNvNGMo4ctsOh2Y130_assertion description "[Single nucleotide polymorphisms in PPARD modify the conversion from glucose intolerance to type 2 diabetes particularly in combination with polymorphisms in PGC-1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135034.RAd0g8OuxKMM26849bj0s4NcLt7Fl1uNvNGMo4ctsOh2Y130_provenance.
- NP135041.RAR5dntsJlMZ8YDL98TsUMJp29fT8lmk6Pefzy_1U800s130_assertion description "[Since hepatic glycogen synthesis, a GLP-1 action, was impaired, the altered expressions of GLP-1 and DPPIV may be involved in the development of HCV-associated glucose intolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135041.RAR5dntsJlMZ8YDL98TsUMJp29fT8lmk6Pefzy_1U800s130_provenance.
- NP135042.RAUgmtspJI0IJ1KUn6Kl7H5CLQqdXKv7Zst4aEoCGMh-w130_assertion description "[important role for the irregularities in glucagon response in the postprandial glucose excursion in glucose intolerance and type 2 diabetes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135042.RAUgmtspJI0IJ1KUn6Kl7H5CLQqdXKv7Zst4aEoCGMh-w130_provenance.
- NP135047.RAWgsxCC5gMBbzAL_5LXG1W2ZkpZIELxTJ04q08tX_psA130_assertion description "[Since hepatic glycogen synthesis, a GLP-1 action, was impaired, the altered expressions of GLP-1 and DPPIV may be involved in the development of HCV-associated glucose intolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135047.RAWgsxCC5gMBbzAL_5LXG1W2ZkpZIELxTJ04q08tX_psA130_provenance.
- NP135058.RAfvMrPoMT59JWTbsfejAOY13yNDXsdNYiswvhX9VjJO4130_assertion description "[Glucose intolerance is associated with increased glycoxidation of circulating low density lipoproteins, which may contribute to the incireased expression of PPARgamma AND C36 in macrophages ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135058.RAfvMrPoMT59JWTbsfejAOY13yNDXsdNYiswvhX9VjJO4130_provenance.
- NP135060.RAQznEdmw10flRMsfSau2Y-TARAejIOYIwSzeUHAnog7o130_assertion description "[inversely related to endothelium-dependent vaodilation in glucose intolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135060.RAQznEdmw10flRMsfSau2Y-TARAejIOYIwSzeUHAnog7o130_provenance.
- NP135061.RAQwvVOnoHzdLNgfhZOSgpHPIQ-t7UrjXJ4R_2QdLZWUk130_assertion description "[Relation between glycemic control, hyperinsulinaemia and plasma concentration in patients with glucose intolerance or niddm ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135061.RAQwvVOnoHzdLNgfhZOSgpHPIQ-t7UrjXJ4R_2QdLZWUk130_provenance.
- NP135066.RAS6JabzZOqjNQd4-SHvnx4X1ZX0gEtNoMl3Fj04zIOaw130_assertion description "[Single nucleotide polymorphisms in PPARD modify the conversion from glucose intolerance to type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135066.RAS6JabzZOqjNQd4-SHvnx4X1ZX0gEtNoMl3Fj04zIOaw130_provenance.
- NP135067.RAQ0XP387S7UZzzRmtxDZ5huHf5HOESWfcpRS5YcdcxBI130_assertion description "[In the US population, elevated gamma-glutamyltransferase (GGT) was associated with mortality from all causes, liver disease, cancer, and diabetes, while alanine aminotransferase (ALT) was associated only with liver disease mortality.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135067.RAQ0XP387S7UZzzRmtxDZ5huHf5HOESWfcpRS5YcdcxBI130_provenance.
- NP135069.RASqyjFZC2ZOQ7Ixrk7CNZsVMz5f63fEXRQx_SHqzqfm4130_assertion description "[In obese patients with NAFLD (nonalcoholic fatty liver disease), OSA (obstructive sleep apnea) was associated with elevated alanine aminotransferase levels and a trend toward histologic evidence of progressive liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135069.RASqyjFZC2ZOQ7Ixrk7CNZsVMz5f63fEXRQx_SHqzqfm4130_provenance.
- NP135073.RATLN0a2Se3bSFh0inKjnzsV98N_D2xftNqtyOyBuyjco130_assertion description "[TCF7L2 CT/TT genotype is more frequent in nonalcoholic fatty liver disease and predicts the presence and severity of liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135073.RATLN0a2Se3bSFh0inKjnzsV98N_D2xftNqtyOyBuyjco130_provenance.
- NP135080.RAQPR_0jPQt24DoxSfBrEXEk_NCtsLtXYRt5K4dSZfAiE130_assertion description "[An excellent blood marker for screening of renal dysfunction in children with liver disease and after liver transplantation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135080.RAQPR_0jPQt24DoxSfBrEXEk_NCtsLtXYRt5K4dSZfAiE130_provenance.
- NP135099.RAWBUb2XWjC7wfhI-tj7rAE_rSxuTl5pKPrkLaMGtaK-s130_assertion description "[MMP-9 gene polymorphisms account for some of the variability in the progression of HCV-related chronic liver diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135099.RAWBUb2XWjC7wfhI-tj7rAE_rSxuTl5pKPrkLaMGtaK-s130_provenance.
- NP135100.RAfee1J3YOoAxYn-YJ2hX4xrMp1bIUoSKqPS6PFFe_bH8130_assertion description "[Active involvement of MMP-2 and -9 in end-stage liver disease and orthotopic liver transplantation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135100.RAfee1J3YOoAxYn-YJ2hX4xrMp1bIUoSKqPS6PFFe_bH8130_provenance.
- NP135103.RAbvzoFSJlk4bnDfx4LG9CrU01yQTT24eNcR_TAtSl2Zc130_assertion description "[The increase in nuclear expression of GHR with advanced stages of chronic liver disease suggests that GH may act directly at the nuclear level to promote hepatocyte proliferation/regeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135103.RAbvzoFSJlk4bnDfx4LG9CrU01yQTT24eNcR_TAtSl2Zc130_provenance.
- NP135109.RAWvP25NnvxjAiJJSvzCexcy9K9wCJbKNN5YYGKcpLCcA130_assertion description "[particularly in conditions of enhanced oxidative stress, lymphomonocytes from liver disease patients present an increased expression of HSP27 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135109.RAWvP25NnvxjAiJJSvzCexcy9K9wCJbKNN5YYGKcpLCcA130_provenance.
- NP135113.RAUFCPdmA1pruUGXepXQlEap0xqo9I4IwPaxwb3ZJbliQ130_assertion description "[involvement of IL-6 in the pathogenesis of liver diseases and suggest a protective role of IL-6/gp130-dependent pathways in nonparenchymal liver cells during fibrosis progression in chronic liver diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135113.RAUFCPdmA1pruUGXepXQlEap0xqo9I4IwPaxwb3ZJbliQ130_provenance.
- NP135119.RAeEdUjz9gRz2abOWdsi4xLI-0pJpk-ezZkGHCbr4uwKk130_assertion description "[Potential role of FXR-mediated NF-kappaB inhibition for pathogenesis and treatment of liver diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135119.RAeEdUjz9gRz2abOWdsi4xLI-0pJpk-ezZkGHCbr4uwKk130_provenance.
- NP135126.RAXQjOEYWszcvAQgJ142YdYHCbG2WAY09Pl0i4iHoZtcs130_assertion description "[Different alterations of cytochrome P450 3A4 isoform and its gene expression in livers of patients with chronic liver diseases/isoenzyme and its activity declined among patients with hepatic cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135126.RAXQjOEYWszcvAQgJ142YdYHCbG2WAY09Pl0i4iHoZtcs130_provenance.
- NP135128.RAfxdadz79j9n0COhGcp8EKBol1tq4feqgiivLk3NKgUc130_assertion description "[P-53 over-expression can occur in initial stages of HCV-related liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135128.RAfxdadz79j9n0COhGcp8EKBol1tq4feqgiivLk3NKgUc130_provenance.
- NP135132.RATy7zAByPhuj-p9g5ABVp5IuUo-E1Rz5XM8WyGiUl3jg130_assertion description "[Results suggest that hepatocyte over-expression of CD40 might play an important role in regulating hepatocyte survival and death in HCV-associated chronic liver diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135132.RATy7zAByPhuj-p9g5ABVp5IuUo-E1Rz5XM8WyGiUl3jg130_provenance.
- NP135140.RAdRiU1sGgEJLFjE6M7fgPhkIaCIUGr2gInwHJrM7o9NI130_assertion description "[TNF-alpha gene polymorphism in patients infected with HBV would result in relatively inefficient inhibition of HBV and development of end-stage liver disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135140.RAdRiU1sGgEJLFjE6M7fgPhkIaCIUGr2gInwHJrM7o9NI130_provenance.
- NP135150.RAfJMvAxcj01a2nk073_2udGxYWkiNn1T48plWED0o5hY130_assertion description "[Data indicate that MIA2 represents a potential novel acute phase protein and MIA2 expression responds to liver damage in chronic liver diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135150.RAfJMvAxcj01a2nk073_2udGxYWkiNn1T48plWED0o5hY130_provenance.
- NP135151.RAdUGTgCIRR9_V3Ol2-Sh6YU8bxSVmoF1KzTKkABHe-CY130_assertion description "[Mutation of this protein is a risk factor for liver disease of multiple etiologies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135151.RAdUGTgCIRR9_V3Ol2-Sh6YU8bxSVmoF1KzTKkABHe-CY130_provenance.
- NP135155.RAXoE6J4CTcupSIHWBoOtuaHbV7bfAUfZfWZwyj4-SCBg130_assertion description "[identified as a new binding partner for E.coli EspB and EspD, suggesting a previously unappreciated role for AAT in host cell defense against enteropathogenic Escherichia coli infections and potentially also against other bacterial pathogens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135155.RAXoE6J4CTcupSIHWBoOtuaHbV7bfAUfZfWZwyj4-SCBg130_provenance.
- NP135157.RAdP6k8qTdxW2SqDdYkfc5urZ71lGHekJiN7OcSGV3PB4130_assertion description "[detected in epithelial cells lining the entire urinary tract and in the renal tubular epithelium in response to Escherichia coli infections ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135157.RAdP6k8qTdxW2SqDdYkfc5urZ71lGHekJiN7OcSGV3PB4130_provenance.
- NP135162.RAaGfrOU1QQrVHgpsbDk_YGSvGQAKh6iJnoNJWSM4ZNKw130_assertion description "[IL-15 genetic variants play an important role in the pathogenesis of psoriasis, probably by increasing interleukin production and inflammation in the lesions of psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135162.RAaGfrOU1QQrVHgpsbDk_YGSvGQAKh6iJnoNJWSM4ZNKw130_provenance.
- NP135166.RAWyzXYVUt3-mAgu1ZrCXgrIvIboFrM8lLFRgrXrpLmfk130_assertion description "[IL12B SNP is associated with susceptibility to atopic dermatitis and psoriasis vulgaris, presumably by affecting the Th1/Th2 balance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135166.RAWyzXYVUt3-mAgu1ZrCXgrIvIboFrM8lLFRgrXrpLmfk130_provenance.
- NP135169.RAYArlqEPAPuX3XGds5wGfL37BA_gd9Xtxcs1kEifirTU130_assertion description "[polymorphism associated with early onset psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135169.RAYArlqEPAPuX3XGds5wGfL37BA_gd9Xtxcs1kEifirTU130_provenance.
- NP135173.RAe6KIoe3YzPKDDDGaNDMRr8w0NMSzoTFzdJL6c8TiK8k130_assertion description "[This review discusses recent knowledge about the effects of cytokines of the IL-10 family on keratinocytes and their potential role in psoriasis, a cutaneous inflammatory disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135173.RAe6KIoe3YzPKDDDGaNDMRr8w0NMSzoTFzdJL6c8TiK8k130_provenance.
- NP135182.RARnavFdqvbU7KsSCyOtNLREDlkrLpT3YtuLcjw9bXYd8130_assertion description "[serum level increased in psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135182.RARnavFdqvbU7KsSCyOtNLREDlkrLpT3YtuLcjw9bXYd8130_provenance.
- NP135186.RAW6d9hV0zJsqhbu-SjOZanfmIZeKaqblLqsEQb5QWk7Y130_assertion description "[An increase in the frequency of the activating KIR2DS1 gene was detected in the psoriatic arthritis (PsA) patients, compared with psoriasis patients negative for PsA and an unaffected American Caucasian control group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135186.RAW6d9hV0zJsqhbu-SjOZanfmIZeKaqblLqsEQb5QWk7Y130_provenance.
- NP135192.RAXNXZOg85S0KL3pFPMOatsN58w26JUPNCxWe8aYc1mlI130_assertion description "[the first to demonstrate association of IL23R with Crohn disease and ulcerative colitis in Swedish patients; itreports linkage and association of the IL23R region with psoriasis in the Finnish population and linkage of the IL23R region to celiac disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135192.RAXNXZOg85S0KL3pFPMOatsN58w26JUPNCxWe8aYc1mlI130_provenance.
- NP135195.RAe_2VsFZjtokABbxQAXijTDm0gkSScj6EStoX23c6N-A130_assertion description "[Expanded catalog of genetic loci implicated in psoriasis susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135195.RAe_2VsFZjtokABbxQAXijTDm0gkSScj6EStoX23c6N-A130_provenance.
- NP135196.RAVwvFgZ2XqZuKeNmuZBredB01BUHjn2wtmXzZcUw-V6w130_assertion description "[Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135196.RAVwvFgZ2XqZuKeNmuZBredB01BUHjn2wtmXzZcUw-V6w130_provenance.
- NP135201.RAXTgVumK6P_zi-pfIP0kyZkQWlq4zVGkbRSORkMqm1jQ130_assertion description "[IL-17F may be involved in psoriasis via, in part, the activation of ERK1/2 and the induction of IL-8 in keratinocytes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135201.RAXTgVumK6P_zi-pfIP0kyZkQWlq4zVGkbRSORkMqm1jQ130_provenance.
- NP135209.RAUVuZ0tIL35uLZtAqpgr2JNG-WXQk5unIOafmRJ-yxIY130_assertion description "[CLA is expressed in circulating mononuclear cells of patients with psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135209.RAUVuZ0tIL35uLZtAqpgr2JNG-WXQk5unIOafmRJ-yxIY130_provenance.
- NP135215.RAZAytsAopRH_NTXSIBRtoda8QHxtR0Pet5Zw1b40NZSc130_assertion description "[C1858T polymorphism is unlikely to be associated in psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135215.RAZAytsAopRH_NTXSIBRtoda8QHxtR0Pet5Zw1b40NZSc130_provenance.
- NP135217.RAa7IJWk2XQuQn42vNYvt0b6SSITvc2x_XA8ZwM8BjYwU130_assertion description "[Overexpression of IL-13Ralpha1 may play some role in pathogenesis of chronic stage of atopic dermatitis or psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135217.RAa7IJWk2XQuQn42vNYvt0b6SSITvc2x_XA8ZwM8BjYwU130_provenance.
- NP135221.RAZ56ilw6Fx5848OWwXkg0tL_ec15V7SLV0LyraJ2EZj0130_assertion description "[IL-8 and IL-6 may have roles in development of psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135221.RAZ56ilw6Fx5848OWwXkg0tL_ec15V7SLV0LyraJ2EZj0130_provenance.
- NP135222.RAT_73S3qTO72rS1kkKL69syg-ME22JhnZ9VOdpyk0-3A130_assertion description "[IL-17F may be involved in psoriasis via, in part, the activation of ERK1/2 and the induction of IL-8 in keratinocytes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135222.RAT_73S3qTO72rS1kkKL69syg-ME22JhnZ9VOdpyk0-3A130_provenance.
- NP135223.RAWT9WKyGFdvK-YACnYQG6GZqMQIIHLwqNGsVRAhUYTxM130_assertion description "[In psoriasis, the epidermal differentiation could be disturbed due to the increased expression of HAX-1 and hence a prolonged resistance to terminal differentiation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135223.RAWT9WKyGFdvK-YACnYQG6GZqMQIIHLwqNGsVRAhUYTxM130_provenance.
- NP135228.RAemi1MGDvGIYqqIMqNCUrJFgDusyFrB36NLm_MbvCtPo130_assertion description "[study found strong associations of psoriasis with variant alleles of LMP and TAP ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135228.RAemi1MGDvGIYqqIMqNCUrJFgDusyFrB36NLm_MbvCtPo130_provenance.
- NP135231.RASlXrjqOgxqiUGzrgW41TPra0IcKyNxzdRC5--SLzqhQ130_assertion description "[Expanded catalog of genetic loci implicated in psoriasis susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135231.RASlXrjqOgxqiUGzrgW41TPra0IcKyNxzdRC5--SLzqhQ130_provenance.
- NP135232.RAeqEl7g2MdFBTZA69_cmzBBm0z1xzGRPURo4xhTOm9uk130_assertion description "[The hypotheses that genetic variations of the IL-20-RI influence susceptibility to psoriasis and single nucleotide polymorphisms (SNPs) in the IL20RA and IL20RB genes in psoriasis patients were investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135232.RAeqEl7g2MdFBTZA69_cmzBBm0z1xzGRPURo4xhTOm9uk130_provenance.
- NP135238.RAbev-v_dNb1G3ztgilOLnE9Wkem7sVWMCli85xCtl7FE130_assertion description "[PTX3 could be used as a further marker of disease activity of psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135238.RAbev-v_dNb1G3ztgilOLnE9Wkem7sVWMCli85xCtl7FE130_provenance.
- NP135241.RASHDSk0dFLroADJ2AwC101NWSpWylKwbel15H89cO9xw130_assertion description "[VEGF levels may be regarded as a good indicator of active psoriasis arthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135241.RASHDSk0dFLroADJ2AwC101NWSpWylKwbel15H89cO9xw130_provenance.
- NP135245.RAUGaQ-H6m8C2JeI0MHcxIhrZdKxbDog-ahS2ArQZorJs130_assertion description "[Vitamin D Receptor (VDR) gene Tapolymorphism is associated with familial psoriasis in the Turkish population and VDR gene polymorphisms may play a role in partial resistance to calcipotriol therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135245.RAUGaQ-H6m8C2JeI0MHcxIhrZdKxbDog-ahS2ArQZorJs130_provenance.
- NP135247.RAc4ivWHXjKqGHx5UtcUBfl5jp48jzRBNR2oO81UBdXVo130_assertion description "[Polymorphisms of the TNFB gene may contribute to a predisposition to psoriasis in the Korean population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135247.RAc4ivWHXjKqGHx5UtcUBfl5jp48jzRBNR2oO81UBdXVo130_provenance.
- NP135253.RAYln36q7zIZLzXpLBUPo6Wn0zSu1SH5-Z_rJdEwoSeyg130_assertion description "[The frequencies of KIR2DS1 and KIR2DL5 were significantly increased in psoriasis vulgaris cases compared with controls ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135253.RAYln36q7zIZLzXpLBUPo6Wn0zSu1SH5-Z_rJdEwoSeyg130_provenance.
- NP135265.RAZ9xdzqW-sBYXbFPMEy1KITuiIN1fDq9Av50MyN7mmJ8130_assertion description "[LCE3C _ LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135265.RAZ9xdzqW-sBYXbFPMEy1KITuiIN1fDq9Av50MyN7mmJ8130_provenance.
- NP135266.RARBDhVWWWFCG_jo3tNf1ZxCrsQUZwrjayRRLI8NWjIO0130_assertion description "[Results show that HLA-Cw6 and CCHCR1 risk allele associations with clinical features of psoriasis are predictably highly similar in a Finnish nationwide cohort of 379 psoriasis patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135266.RARBDhVWWWFCG_jo3tNf1ZxCrsQUZwrjayRRLI8NWjIO0130_provenance.
- NP135268.RAXVRECOQfW3q-GEUw6BzkcsTNHaWJd0uytFzo7A4PP2g130_assertion description "[The greatest increase in tissue ACE activity was observed in patients with erythrodermic psoriasis, followed by those with multiple disseminated lesions, and solitary psoriatic lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135268.RAXVRECOQfW3q-GEUw6BzkcsTNHaWJd0uytFzo7A4PP2g130_provenance.
- NP135269.RAX8IhCVAGvwh142tTr0561fYQlKXiyRV8_gCmVgwbl9k130_assertion description "[Chromosome 17q25 harbors a susceptibility locus for psoriasis/linkage analysis revealed a linkage peak lying close to a novel cluster of genes from the immunoglobulin (Ig) superfamily.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135269.RAX8IhCVAGvwh142tTr0561fYQlKXiyRV8_gCmVgwbl9k130_provenance.
- NP135270.RAdbIaXltZvte_TH_o0XbPk5JDjKYCatd4UKqhcv-fVFY130_assertion description "[The rarer variant alleles protect from psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135270.RAdbIaXltZvte_TH_o0XbPk5JDjKYCatd4UKqhcv-fVFY130_provenance.
- NP135271.RAYEYXgZOuGRC_J7RQ7m3IygQev6L4l3U0k_7hJ0LNsxQ130_assertion description "[highest expression of Cat L was found in psoriasis, atopic eczema and squamous cell carcinoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135271.RAYEYXgZOuGRC_J7RQ7m3IygQev6L4l3U0k_7hJ0LNsxQ130_provenance.
- NP135277.RAalzYRUJnEy7WcDr82Pp9RL6PFkF1BpBcsEFU3zYysnI130_assertion description "[High plasma OPN levels are an unfavorable factor for development of cardiovascular disease in patients with psoriasis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135277.RAalzYRUJnEy7WcDr82Pp9RL6PFkF1BpBcsEFU3zYysnI130_provenance.
- NP135299.RAQwRpozActuDWU3n5mm2se7Q9eX0r7UeAo5oZnrKHgBM130_assertion description "[VEGFR3 single nucleotide polymorphisms andthe haplotype GC in the VEGFA gene are associated with psoriasis in Koreans ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135299.RAQwRpozActuDWU3n5mm2se7Q9eX0r7UeAo5oZnrKHgBM130_provenance.
- NP135300.RAXbtyD7d8lDDK1FXZtCPiOGfyeXjMBK-sFBMflcJ68us130_assertion description "[Significantly lower plasma levels of both sHLA-G and IL-10 were found in psoriatic group compared to controls; findings could indicate that low sHLA-G levels may contribute to susceptibility to psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135300.RAXbtyD7d8lDDK1FXZtCPiOGfyeXjMBK-sFBMflcJ68us130_provenance.
- NP135301.RAVF7YW2QKmvs0mEF_YUKCpUaMyL9hBg7ZmDzDDDwmRvQ130_assertion description "[Certain HLA alleles are found in Chinese patients with psoriasis (HLA-A*30, -Cw*06, -DR*07) and psoriatic arthritis (PsA) (HLA-B*27)/patients with the HLA-B*27 and/or -Cw*12 may have higher risk of developing PsA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135301.RAVF7YW2QKmvs0mEF_YUKCpUaMyL9hBg7ZmDzDDDwmRvQ130_provenance.
- NP135305.RAfEq0kOv-95QlU8YXNE_iriY_TDLXstPyAE_QGdtH0OA130_assertion description "[Certain HLA alleles are found in Chinese patients with psoriasis (HLA-A*30, -Cw*06, -DR*07) and psoriatic arthritis (PsA) (HLA-B*27)/patients with the HLA-B*27 and/or -Cw*12 may have higher risk of developing PsA [HLA-DR].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135305.RAfEq0kOv-95QlU8YXNE_iriY_TDLXstPyAE_QGdtH0OA130_provenance.
- NP135309.RAYGDjgVCKhg8vlHB5PJBEcuCtdOitpM1U0Oa_ZoubcfE130_assertion description "[These results showed the -2518 MCP-1 polymorphism is related to the susceptibility of plaque type psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135309.RAYGDjgVCKhg8vlHB5PJBEcuCtdOitpM1U0Oa_ZoubcfE130_provenance.
- NP135322.RAbVc0Ct03lrxlviJr9JSYPP8U6EVuS8AJ0g5-bJeQ5oA130_assertion description "[NMDA receptors are expressed in human epidermis under physiological conditions especially in stratum granulosum/reduced expression within parakeratotic epidermis in psoriasis vulgaris may be evidence of impaired intracellular calcium influx.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135322.RAbVc0Ct03lrxlviJr9JSYPP8U6EVuS8AJ0g5-bJeQ5oA130_provenance.
- NP135325.RAfv5DX7ZR2FeVD1i_iaQgBJeibzDkAjyfhIp0-Em-wmk130_assertion description "[Study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency and its mutation could be the genetic defect causing autosomal dominant congenital cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135325.RAfv5DX7ZR2FeVD1i_iaQgBJeibzDkAjyfhIp0-Em-wmk130_provenance.
- NP135326.RAaFycgs6cU9KWs4e9Nxp1HCHoXb_VG6HqLm9Z-A3sfss130_assertion description "[A p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin, is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135326.RAaFycgs6cU9KWs4e9Nxp1HCHoXb_VG6HqLm9Z-A3sfss130_provenance.
- NP135327.RAdfDSSlo1TtJxhwO9yCvPetfr6n-UplFor5auDjbPeO0130_assertion description "[Five novel mutations in CRYAA, CRYGD, and GJA8 genes were detected in congenital cataract in association with microcornea ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135327.RAdfDSSlo1TtJxhwO9yCvPetfr6n-UplFor5auDjbPeO0130_provenance.
- NP135330.RAY8c29oDq1RKI1psx3vXK-lru87Wfy-ZHQw5tCF7aT2E130_assertion description "[These results suggest that the changes in the structure and function of the alpha-crystallin complex and cytotoxicity are vital factors in the pathogenesis of congenital cataract linked to the P20S mutation in the alphaB-crystallin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135330.RAY8c29oDq1RKI1psx3vXK-lru87Wfy-ZHQw5tCF7aT2E130_provenance.
- NP135332.RATqQGywgk937JrDC6azPKOUAicCgoorDFc1m-tdqFTMc130_assertion description "[Mapping a locus for syndromal cataract (cataract-microcornea syndrome) on 21q22.3/CRYAA) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135332.RATqQGywgk937JrDC6azPKOUAicCgoorDFc1m-tdqFTMc130_provenance.
- NP135341.RAa8Yo6sECe5kcSMWlzDk1LCZFrUTZiBZsZO7CYiGonAw130_assertion description "[These results suggest that the changes in the structure and function of the alpha-crystallin complex and cytotoxicity are vital factors in the pathogenesis of congenital cataract linked to the P20S mutation in the alphaB-crystallin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135341.RAa8Yo6sECe5kcSMWlzDk1LCZFrUTZiBZsZO7CYiGonAw130_provenance.
- NP135342.RAf3LdPIVshg7fu9rCiG4lnnZx8yXORThgHCV5Rj4dM04130_assertion description "[Novel mutation (R33L) in the GJA3 associated with finely granular embryonal cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135342.RAf3LdPIVshg7fu9rCiG4lnnZx8yXORThgHCV5Rj4dM04130_provenance.
- NP135345.RAbtfef1sujfqrddQm7VKt8S5ZRYxglfADUfGg9FH1o9c130_assertion description "[A novel CX46 missense mutation indetified in a large autosomal dominant congenital cataract Australian pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135345.RAbtfef1sujfqrddQm7VKt8S5ZRYxglfADUfGg9FH1o9c130_provenance.
- NP135348.RActqfxcNENjL59R886KU6CGIz1LhZcs5r8dh52LHQRYI130_assertion description "[Congenital cataracts facial dysmorphism neuropathy is caused by a single-nucleotide substitution in an antisense Alu element in intron 6 of CTDP1, resulting in a rare mechanism of aberrant splicing and an Alu insertion in the processed mRNA ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135348.RActqfxcNENjL59R886KU6CGIz1LhZcs5r8dh52LHQRYI130_provenance.
- NP135349.RAbmFaIQCwRFOXr7CUn_YrjZ4kyAkR86oi_Ucxzc6Z4R0130_assertion description "[no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135349.RAbmFaIQCwRFOXr7CUn_YrjZ4kyAkR86oi_Ucxzc6Z4R0130_provenance.
- NP135357.RARF0XimF3NB-WtbgHns41NcfZkz-CYYL6oNFEC982CD0130_assertion description "[These results suggest that insolubility, rather than loss of stability, is the primary basis for human gammaD-crystallin P23T mutation-derived congenital cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135357.RARF0XimF3NB-WtbgHns41NcfZkz-CYYL6oNFEC982CD0130_provenance.
- NP135360.RAUTn_p-akftIk53icdJ8qQ4u5dZ-mXN0HvAG2Qcqqkqg130_assertion description "[This study has identified an eighth type of cataract morphology associated with CRYGD and suggests that a CRYGD mutation may underlie the historically important " coralliform " cataract first reported in 1895.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135360.RAUTn_p-akftIk53icdJ8qQ4u5dZ-mXN0HvAG2Qcqqkqg130_provenance.
- NP135365.RAT9VMK5hhCmNCLrjo9ul446H8xarZncb_zOsP5KTfeng130_assertion description "[For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135365.RAT9VMK5hhCmNCLrjo9ul446H8xarZncb_zOsP5KTfeng130_provenance.
- NP135370.RAea2yIg9gm41-v1di5IPPcT0b3g3FVw-a6XXtc9oh9X8130_assertion description "[identified a transcriptional variant of the GNAL gene in chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135370.RAea2yIg9gm41-v1di5IPPcT0b3g3FVw-a6XXtc9oh9X8130_provenance.
- NP135375.RAWCxsJbfWZZiGLTcdnMVECwLmL8xodInVnWr0q5_WPYw130_assertion description "[Polymorphisms of this gene may be one of the genetic risk factors for bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135375.RAWCxsJbfWZZiGLTcdnMVECwLmL8xodInVnWr0q5_WPYw130_provenance.
- NP135386.RATmDA0u5DmLWqFhnpfNL3aXmRKbogQj9hWxNaQR7zf-I130_assertion description "[study found that hippocampus volumes were significantly smaller in bipolar disorder (BD) compared to healthy subjects, and presence of the BDNF met allele was associated with smaller hippocampus volume in both groups ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135386.RATmDA0u5DmLWqFhnpfNL3aXmRKbogQj9hWxNaQR7zf-I130_provenance.
- NP135387.RAcPPQ4rVVGBuBUKdEJmxSLDTy6gLCb-hbILdhx0TpuY4130_assertion description "[associated with bipolar disorder using pedigree linkage disequilibrium ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135387.RAcPPQ4rVVGBuBUKdEJmxSLDTy6gLCb-hbILdhx0TpuY4130_provenance.
- NP135388.RAX9SQL_X3FECHLoKLSmn_VZu_nKk6wOMB7kvBF5AbLQQ130_assertion description "[Data show that Serum high-sensitive C-reactive protein levels are increased in manic bipolar disorder patients, as compared to euthymic, depressed patients and healthy controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135388.RAX9SQL_X3FECHLoKLSmn_VZu_nKk6wOMB7kvBF5AbLQQ130_provenance.
- NP135390.RAXlVZHctucJnNuUzw0CPQS6myo5upfQZZusQeo8nAqOQ130_assertion description "[Data show that SNPs in GRIN1 gene were related to the bipolar disorder/results confirm that the GRIN1 gene confers susceptibility to bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135390.RAXlVZHctucJnNuUzw0CPQS6myo5upfQZZusQeo8nAqOQ130_provenance.
- NP135393.RAf00bdZUY_WWHBkIcqZ6n_w78dIi_FqNBlFZ4RqjIjp8130_assertion description "[Results provide further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135393.RAf00bdZUY_WWHBkIcqZ6n_w78dIi_FqNBlFZ4RqjIjp8130_provenance.
- NP135396.RAWAB2T4jQRmhXbYVr7Y-1cEZhvvspQj816sU7Wlx5vQk130_assertion description "[Contribution of common variations of ATF4 and ATF5 to the pathophysiology of bipolar disorder may be minimal if any.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135396.RAWAB2T4jQRmhXbYVr7Y-1cEZhvvspQj816sU7Wlx5vQk130_provenance.
- NP135404.RAVvbzJXoraHJb6rVJ5HPf46DOa2BVVt1SXwOyBPH_OSs130_assertion description "[The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms, linked to chromosome 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135404.RAVvbzJXoraHJb6rVJ5HPf46DOa2BVVt1SXwOyBPH_OSs130_provenance.