Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP54416.RAgVddTAzGBSjOiUonXMcufLQMBfwXihpLIkvX9DxgxPs130_assertion description "[Matrix metalloproteinase-9 and matrix metalloproteinase-2 gene polymorphisms in multiple sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54416.RAgVddTAzGBSjOiUonXMcufLQMBfwXihpLIkvX9DxgxPs130_provenance.
- NP54425.RAumNkTOQspSdC6iFIH2KvCo7G-50COoVZoA5eHiIxsDM130_assertion description "[Although MMP-9 has been suggested to be important in inflammation and in the connective tissue remodeling associated with asthma, the genetic influences of the polymorphisms of MMP-9 are unclear.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54425.RAumNkTOQspSdC6iFIH2KvCo7G-50COoVZoA5eHiIxsDM130_provenance.
- NP54444.RAgA6dMKgRW3nHXe2Bl8O6D3pS8ZVX0xJW-Nr06IHyxcQ130_assertion description "[A cohort of patients with seropositive rheumatoid arthritis were recruited and genotyped for the MMP1-1607 1G > 2G, MMP3-1612 5A > 6A, MMP7-153C > T, MMP7-181G > A, MMP12-82A > G and MMP13-77A > G polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54444.RAgA6dMKgRW3nHXe2Bl8O6D3pS8ZVX0xJW-Nr06IHyxcQ130_provenance.
- NP54445.RAibWBK3c_knrJ2B5jHw6hrHMD2kF7KfVAB7EL6vgQiQs130_assertion description "[These findings demonstrate the functional significance of SNP haplotypes in the MMP8 gene and associations with obstetrical outcomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54445.RAibWBK3c_knrJ2B5jHw6hrHMD2kF7KfVAB7EL6vgQiQs130_provenance.
- NP54452.RApv1NOM3jyjZxoJ88ix3MzH90b7Ud6asjJbrWvBONZao130_assertion description "[have been difficult to draw and are partly hampered by the small number of patients in each study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54452.RApv1NOM3jyjZxoJ88ix3MzH90b7Ud6asjJbrWvBONZao130_provenance.
- NP54455.RAqu1J6W1NR8e9WcRyndTh8WEYYRX6TwMrZQTg8sWbn-c130_assertion description "[Association between single nucleotide polymorphisms of matrix metalloproteinase-3 gene and the severity of coronary atherosclerosis in patients with coronary artery disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54455.RAqu1J6W1NR8e9WcRyndTh8WEYYRX6TwMrZQTg8sWbn-c130_provenance.
- NP54456.RAsH1jv6IGHfZQTWEElosRvhI70hzxUAw5sVsSnw0zmxk130_assertion description "[Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54456.RAsH1jv6IGHfZQTWEElosRvhI70hzxUAw5sVsSnw0zmxk130_provenance.
- NP54459.RAqsiKBF9fO0EQkafy8gN_ILmyB4ah0oReAyBH5Qducr8130_assertion description "[We investigated whether the 5A/6A polymorphism within the MMP-3 (stromelysin-1) gene promoter region is associated with disease outcome in 254 patients with established RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54459.RAqsiKBF9fO0EQkafy8gN_ILmyB4ah0oReAyBH5Qducr8130_provenance.
- NP54464.RAhqLVReIXCiFhIdrrsaR38oXD14N7DiPNQ4kn34Pzn4g130_assertion description "[ The 5A allele of MMP-3 might be associated with the increased susceptibility to NSCLC among smokers. The 5A homozygote might increase the risk of lymphatic metastasis in NSCLC patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54464.RAhqLVReIXCiFhIdrrsaR38oXD14N7DiPNQ4kn34Pzn4g130_provenance.
- NP54465.RAix5bhDR71htfyfNFw0aetHV9Pt3XeFuGw6oi84i7lps130_assertion description "[The observed multiple cancer-associated genetic variants suggested that the MMP1-MMP3-MMP12 gene cluster plays important roles in lung cancer development and progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54465.RAix5bhDR71htfyfNFw0aetHV9Pt3XeFuGw6oi84i7lps130_provenance.
- NP54476.RAhjzfX48jCBQjNo-Jxv9eSfib9s6lRdT7soxfalS0YPg130_assertion description "[These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54476.RAhjzfX48jCBQjNo-Jxv9eSfib9s6lRdT7soxfalS0YPg130_provenance.
- NP54482.RAutHIqbTD5IxqchPfpdEXMm-ZIqJxT7jyoYlLMAW53j0130_assertion description "[Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54482.RAutHIqbTD5IxqchPfpdEXMm-ZIqJxT7jyoYlLMAW53j0130_provenance.
- NP54483.RAv6Rns8Hwp1ZikPviBAWXCwkxNBSMGkxrRYDphtIfSXA130_assertion description "[ Although this should be considered only as a pilot study, our results suggest that the presence of 5A polymorphism at the MMP-3 promoter region may represent an unfavorable prognostic feature in breast cancer patients associated with more invasive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54483.RAv6Rns8Hwp1ZikPviBAWXCwkxNBSMGkxrRYDphtIfSXA130_provenance.
- NP54491.RAq_9rZmvwSgHEPG-pbyvdv4sNsxrWmP_2OA4Uym6AArI130_assertion description "[Determination of the genotypes of the connexin 37, plasminogen-activator inhibitor type 1, and stromelysin-1 genes may prove reliable in predicting the genetic risk of myocardial infarction and might thus contribute to the primary prevention of this condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54491.RAq_9rZmvwSgHEPG-pbyvdv4sNsxrWmP_2OA4Uym6AArI130_provenance.
- NP54499.RAuN6mb1BFtt6U2buqZbg48SfjmMmefKbyXVIfVAzzVH4130_assertion description "[Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54499.RAuN6mb1BFtt6U2buqZbg48SfjmMmefKbyXVIfVAzzVH4130_provenance.
- NP54514.RAgOxYLXRPsZRDqqxIWyUx8toj1Y6P9DIvzgsMHU54krE130_assertion description "[The frequency of the 1575 G to A transition deviated significantly from the expected Hardy-Weinberg distribution in two independently assembled study populations consisting of healthy adult blood donors and newborns of Caucasian origin, both with a calculated 21% reduction in genetic fitness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54514.RAgOxYLXRPsZRDqqxIWyUx8toj1Y6P9DIvzgsMHU54krE130_provenance.
- NP54518.RAofIbo2jJxy8Sdkk9s7AaCX7zft-ir4jaLNlOaeVNntQ130_assertion description "[The results indicate the association between polymorphisms in gene promotor region for MMP-2 and susceptibility to development of RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54518.RAofIbo2jJxy8Sdkk9s7AaCX7zft-ir4jaLNlOaeVNntQ130_provenance.
- NP54519.RAjHifVwQ6nxPiC_THtjhMiSPBYS8py14bH6pFGXITlfs130_assertion description "[The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54519.RAjHifVwQ6nxPiC_THtjhMiSPBYS8py14bH6pFGXITlfs130_provenance.
- NP54524.RAvnuiRA-nk6d-v__az-FgRMCaOeH5XwDJHxvwcx0yGhk130_assertion description "[Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54524.RAvnuiRA-nk6d-v__az-FgRMCaOeH5XwDJHxvwcx0yGhk130_provenance.
- NP54525.RAglMg2lXnNzTrzXcg6o1H4zqxsJ5UvjuW8wU4C00qmNE130_assertion description "[this study identified SNPs in MMP1, MMP2, MMP7 and MMP12 for further investigation as possible predictors of chemotherapy outcome in lung cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54525.RAglMg2lXnNzTrzXcg6o1H4zqxsJ5UvjuW8wU4C00qmNE130_provenance.
- NP54527.RAsQ_qDh3559AFwF_dOjwKc8TqUwSu7Lyj8aJFbyE1YXg130_assertion description "[These findings suggest that breast cancer phenotype and outcome can be influenced by common functional polymorphisms in MMP genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54527.RAsQ_qDh3559AFwF_dOjwKc8TqUwSu7Lyj8aJFbyE1YXg130_provenance.
- NP54528.RAvSlhG8PyTAmTCdZwrZK-lJ0q-DFCeHxDogcnGcQz6f0130_assertion description "[Promoter polymorphisms in matrix metalloproteinases and their inhibitors: few associations with breast cancer susceptibility and progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54528.RAvSlhG8PyTAmTCdZwrZK-lJ0q-DFCeHxDogcnGcQz6f0130_provenance.
- NP54530.RAr8xG6gqV0g6qnk_NX2ouW6eVZwvUUUdBEskA6Hfd_XI130_assertion description "[Combinational polymorphisms of seven CXCL12-related genes are protective against breast cancer in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54530.RAr8xG6gqV0g6qnk_NX2ouW6eVZwvUUUdBEskA6Hfd_XI130_provenance.
- NP54531.RAqVrmzY59roNzLOVyKqwjv5MPdFb7Ja988nv5yjSs3VY130_assertion description "[Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54531.RAqVrmzY59roNzLOVyKqwjv5MPdFb7Ja988nv5yjSs3VY130_provenance.
- NP54532.RAvdr20Zig3DVYJvo09loX6hUQAeKLRfSDZVfr7HPJo8Y130_assertion description "[The data suggest that MMP-2 -1306C>T polymorphism strongly contributes to the development of BC in the population studied, especially among women 50 years old and younger.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54532.RAvdr20Zig3DVYJvo09loX6hUQAeKLRfSDZVfr7HPJo8Y130_provenance.
- NP54539.RAuKakCl4dg0DWB2wv3zYhOdN1ENIyDyZtj8vSX5NclYc130_assertion description "[have been difficult to draw partly hampered by the small number of subjects in each study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54539.RAuKakCl4dg0DWB2wv3zYhOdN1ENIyDyZtj8vSX5NclYc130_provenance.
- NP54544.RAnsQEpLt6bVzOlD2Wp50Ogx6jQa4YDxDzOaO7bSQdRdU130_assertion description "[The findings of the current study suggest that MMP-2 rs243866 A allele was associated with lower risk of systolic HF in Han Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54544.RAnsQEpLt6bVzOlD2Wp50Ogx6jQa4YDxDzOaO7bSQdRdU130_provenance.
- NP54545.RAq7j_HpVVT3FrtbvHfXvuG4uZ4jVheQFH0lgpO2dRNVk130_assertion description "[Incidence of haplotypes of four MMP-2 promoter polymorphisms (-1575G/A, -1306C/T, -790T/G and -735C/T) determined by PCR reactions with restriction analyses in 187 patients with coronary TVD (153 men, 34 women, age median 65 years) was compared to 196 control subjects without clinical signs of coronary heart disease (131 men and 65 women, age median 60 years).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54545.RAq7j_HpVVT3FrtbvHfXvuG4uZ4jVheQFH0lgpO2dRNVk130_provenance.
- NP54548.RAhVUQshWfZLiGW7eNqW0vAKm1zxO8vymeo0IQvzbME0M130_assertion description "[Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54548.RAhVUQshWfZLiGW7eNqW0vAKm1zxO8vymeo0IQvzbME0M130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion description "[ These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54559.RAhqx-dmEgui0wlzmx-78eCgk-yO3U4fRL_rTmi3CsfX8130_assertion description "[Genetic approaches to the investigation of rheumatoid arthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54559.RAhqx-dmEgui0wlzmx-78eCgk-yO3U4fRL_rTmi3CsfX8130_provenance.
- NP54561.RAjaz73c3S6ynJ9OM147PhO9r84d-MlM-8ao5glDuPwUI130_assertion description "[Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54561.RAjaz73c3S6ynJ9OM147PhO9r84d-MlM-8ao5glDuPwUI130_provenance.
- NP54563.RAlGl5-e1h_xQUrsIKLyjV-3NMr5tZnB5VxeRN6Hp15o0130_assertion description "[Matrix metalloproteinase gene polymorphisms in patients with rheumatoid arthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54563.RAlGl5-e1h_xQUrsIKLyjV-3NMr5tZnB5VxeRN6Hp15o0130_provenance.
- NP54565.RAgVj15EgvMHHRbzZ9yY9cxjji9D5Okf4tRu-rOUlh1ig130_assertion description "[ These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54565.RAgVj15EgvMHHRbzZ9yY9cxjji9D5Okf4tRu-rOUlh1ig130_provenance.
- NP54579.RAiCfp-uCYG_IoNu_Cx8VKsk_lztbYiAHm1Ek74c4GBs4130_assertion description "[Haplotype effect of the matrix metalloproteinase-1 gene on risk of myocardial infarction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54579.RAiCfp-uCYG_IoNu_Cx8VKsk_lztbYiAHm1Ek74c4GBs4130_provenance.
- NP54582.RAveb76mdORyJTz7GwouGzZtDn7pSQLWE-dQocs6TBAQU130_assertion description "[Multiple studies have suggested a role for matrix metalloproteinases (MMPs) in atherosclerosis, and several functional polymorphisms in the MMP-1 gene have been linked to the risk of MI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54582.RAveb76mdORyJTz7GwouGzZtDn7pSQLWE-dQocs6TBAQU130_provenance.
- NP54584.RAvCVrJ65Z08yjqHYLqXPL7ub8THwRn-paA4DS3aO2YUw130_assertion description "[ The study suggested that a possible association between the MMP-7 A/G polymorphism with susceptibility to epithelium ovarian cancer, but there is no support for an association of the selected MMP-1 1G/2G, MMP-3 5A/6A, and MMP-9 C/T polymorphisms with the risk for ovarian cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54584.RAvCVrJ65Z08yjqHYLqXPL7ub8THwRn-paA4DS3aO2YUw130_provenance.
- NP54596.RAhYq7bAQ_GtTNbIsMNmV17Snf0uUdFBAnMGKhzs5jdG8130_assertion description "[ In the subgroups of nondistant metatastic patients (stages I and II, and stages I-III), an inverse relation between the number of MMP-1-1607insG allele and survival was observed suggesting a gene dosage effect. Our results are consistent with the importance of MMP-1-1607ins/delG functional polymorphism in regulating transcription level and with the relationship between MMP-1 expression and cancer invasion, metastasis, and prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54596.RAhYq7bAQ_GtTNbIsMNmV17Snf0uUdFBAnMGKhzs5jdG8130_provenance.
- NP54598.RAu10vyHahTmMcLlXvUMBwPfuKSNhfqvWTesqrGZPQdQU130_assertion description "[ Our results suggest that the presence of 2G polymorphism at the MMP-1 promoter region may favor the growth and the metastatic process in CRC patients and could be looked at as a risk factor for a worse prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54598.RAu10vyHahTmMcLlXvUMBwPfuKSNhfqvWTesqrGZPQdQU130_provenance.
- NP54600.RAptDhOscXGzrgFg05l2CMzu_okOm5pLhMWteWRd_NG08130_assertion description "[Using an allelic discrimination real-time polymerase chain reaction, polymorphisms in the MMP-1, MMP-2 and MMP-3 gene promoters (-1607, -1306, and -1612 bp, respectively) were assessed in normal blood mononuclear cells from patients with CRC (n=503) and control subjects (n=471).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54600.RAptDhOscXGzrgFg05l2CMzu_okOm5pLhMWteWRd_NG08130_provenance.
- NP54603.RAlPQxjkHW25kdV6XyVsGbVYEfE7KOhRTgC1il0BlMOEM130_assertion description "[have been difficult to draw partly hampered by the small number of subjects in each study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54603.RAlPQxjkHW25kdV6XyVsGbVYEfE7KOhRTgC1il0BlMOEM130_provenance.
- NP54606.RAm4JZ0NqovfHO4tRA5V29JWKAaqSkutAlXrr-IA6kdcg130_assertion description "[These findings suggest that this haplotype of MMP-1 and MMP-3 variants may be associated with the risk of developing RCC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54606.RAm4JZ0NqovfHO4tRA5V29JWKAaqSkutAlXrr-IA6kdcg130_provenance.
- NP54609.RAktSbUAPuyRLMvxR5QX-vARrq48hKTxSNyT1gXWBLb4Q130_assertion description "[Our results suggest that allele 2G may be associated with lymphnode metastasis in patients with breast cancer and therefore it can be considered as a prognostic marker in this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54609.RAktSbUAPuyRLMvxR5QX-vARrq48hKTxSNyT1gXWBLb4Q130_provenance.
- NP54615.RAgtP4HhDPVyjYamxBLYSjhwjYMkLiMmhu3PVMegiJCNM130_assertion description "[Homozygosity for the 6A allele of the MMP-3 promoter is associated with carotid stenosis and, in association with MMP-1 2G homozygosity, predicts an increased risk of ICA stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54615.RAgtP4HhDPVyjYamxBLYSjhwjYMkLiMmhu3PVMegiJCNM130_provenance.
- NP54619.RAuxrXII7ycCIc_zK38u9m6-FuihhCfeBAHx7E8e4lEA0130_assertion description "[Variation in the matrix metalloproteinase-1 gene and risk of coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54619.RAuxrXII7ycCIc_zK38u9m6-FuihhCfeBAHx7E8e4lEA0130_provenance.
- NP54620.RAhGsD5aprsTuah2kJhcI3PICmjJLLP93jZWjuwOv5FzU130_assertion description "[Rapid genotype analysis of the matrix metalloproteinase-1 gene 1G/2G polymorphism that is associated with risk of cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54620.RAhGsD5aprsTuah2kJhcI3PICmjJLLP93jZWjuwOv5FzU130_provenance.
- NP54621.RAqbh7tDP1i2PMluMkOGm-Ps-5nPnqG-VzH7RmyEqlpWA130_assertion description "[Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54621.RAqbh7tDP1i2PMluMkOGm-Ps-5nPnqG-VzH7RmyEqlpWA130_provenance.
- NP54622.RAlOgORFWQDjeXTz4iM1XbNUQQoYrwefK4uP_AbNrFH-8130_assertion description "[Our findings suggest that the GT-repeat polymorphism in the promoter region of the NEP gene or some other unknown polymorphisms, which are in a linkage disequilibrium, confer a susceptibility to late-onset AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54622.RAlOgORFWQDjeXTz4iM1XbNUQQoYrwefK4uP_AbNrFH-8130_provenance.
- NP54633.RArXVUCxSBfbvUHmXdP01cuDMe00nVmEmaDw6IROl93r8130_assertion description "[It is unlikely that common variants in MMR genes contribute significantly to colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54633.RArXVUCxSBfbvUHmXdP01cuDMe00nVmEmaDw6IROl93r8130_provenance.
- NP54634.RArhieHwARqcCwTS9imrH7pWUC0EzUyVeLJAzazw1Mo3Y130_assertion description "[we find some evidence that common variants in mismatch repair genes may contribute to survival of patients with colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54634.RArhieHwARqcCwTS9imrH7pWUC0EzUyVeLJAzazw1Mo3Y130_provenance.
- NP54641.RAni_tAUBhfN9SufrM4XoPIhdc8YrAWtKf0BwpcVCFoKQ130_assertion description "[ Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54641.RAni_tAUBhfN9SufrM4XoPIhdc8YrAWtKf0BwpcVCFoKQ130_provenance.
- NP54644.RAm-T9CUt6L4jnpnPIZh0ZV3Qh5a5BwT-rYOhpjGWwxFA130_assertion description "[Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54644.RAm-T9CUt6L4jnpnPIZh0ZV3Qh5a5BwT-rYOhpjGWwxFA130_provenance.
- NP54650.RAtEK3DhwAv858X-16nRM7GQ6r42PEOT7SKCvUg0mpL-4130_assertion description "[This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54650.RAtEK3DhwAv858X-16nRM7GQ6r42PEOT7SKCvUg0mpL-4130_provenance.
- NP54655.RAnvq62DwcqQNFMaoMAr33PXIXE6N478_mpI_SReoLCMg130_assertion description "[Germline mutations or the malfunctioning of postreplicative mismatch repair genes (MMR) are responsible of hereditary nonpolyposis colorectal cancer (HNPCC), and are also implied in some sporadic colorectal cancer (CRC) forms without any familial history of this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54655.RAnvq62DwcqQNFMaoMAr33PXIXE6N478_mpI_SReoLCMg130_provenance.
- NP54657.RAjKa9rwoNHFnoqFCdRweg6xqZOvrC8nSFn7GKZd0gjpc130_assertion description "[In an analysis of 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR): AA vs GG = 3.30, 95% CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518, p = 0.05, proximal vs distal CRC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54657.RAjKa9rwoNHFnoqFCdRweg6xqZOvrC8nSFn7GKZd0gjpc130_provenance.
- NP54663.RAvxz9UOFJN04rqKBiS9HKD9wnHxr26i5K6G6yWBmFQKY130_assertion description "[In 23% of the young endometrial cancer patients with at least one first-degree relative with an HNPCC-related cancer, an MMR gene mutation was detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54663.RAvxz9UOFJN04rqKBiS9HKD9wnHxr26i5K6G6yWBmFQKY130_provenance.
- NP54664.RAnycExJvFNdA4AqBjpHbx578rW0Fq79AFLPYvi75LFV8130_assertion description "[in central Ohio, at least 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54664.RAnycExJvFNdA4AqBjpHbx578rW0Fq79AFLPYvi75LFV8130_provenance.
- NP54665.RAtm0Iw0kextLeZ6RV2LlTRaDjAPUW_eWUpaA9VbXl04E130_assertion description "[Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54665.RAtm0Iw0kextLeZ6RV2LlTRaDjAPUW_eWUpaA9VbXl04E130_provenance.
- NP54669.RAn4KqeTF_BBhB04thzFYxXU1a9Yt4Obac_PZKboMFPAo130_assertion description "[A polymorphism in the hMLH1 gene (-93G-->A) associated with lung cancer susceptibility and prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54669.RAn4KqeTF_BBhB04thzFYxXU1a9Yt4Obac_PZKboMFPAo130_provenance.
- NP54682.RApuMhSXWw2s-XoOTTwpERSJ186DacJxC8gjfE-TcQGuQ130_assertion description "[ The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54682.RApuMhSXWw2s-XoOTTwpERSJ186DacJxC8gjfE-TcQGuQ130_provenance.
- NP54688.RAhO8TJgaZfCTJk70btD5ajRc7wX_GGrKtG-BNQrzmgoo130_assertion description "[Genetic approaches to the investigation of rheumatoid arthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54688.RAhO8TJgaZfCTJk70btD5ajRc7wX_GGrKtG-BNQrzmgoo130_provenance.
- NP54689.RAv22aOTVfdETVTnnDDxy0ZzuK33HAVlohpBLfiBV6sVM130_assertion description "[Total of 133 CD patients, previously reported to be associated with MICA-A5.1, and 116 controls were initially analyzed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54689.RAv22aOTVfdETVTnnDDxy0ZzuK33HAVlohpBLfiBV6sVM130_provenance.
- NP54690.RAtTgu-68cYXF1TKFOiJVfAWD0_zH0dlzlWGPCcmNp0Lw130_assertion description "[The MICA-A5.1 allele was increased in atypical CD patients compared to those with typical forms (pc= 0.0006).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54690.RAtTgu-68cYXF1TKFOiJVfAWD0_zH0dlzlWGPCcmNp0Lw130_provenance.
- NP54691.RAtFK_gQLpDSogv5dg8CQRwbru9GK2OviLovYQ3tgXmiI130_assertion description "[In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54691.RAtFK_gQLpDSogv5dg8CQRwbru9GK2OviLovYQ3tgXmiI130_provenance.
- NP54694.RAlEdP4MQyVsMLVooCs3BkKsc6IBPZRaDAJIyFeP-ZlLM130_assertion description "[To evaluate the contribution of the MHC class I chain-related A (MICA) gene polymorphism to the genetic risk of systemic lupus erythematosus (SLE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54694.RAlEdP4MQyVsMLVooCs3BkKsc6IBPZRaDAJIyFeP-ZlLM130_provenance.
- NP54711.RArNdprM_GbBxNh6KfYKeJD8mE4VwV0a-zfp-j2ngcb0A130_assertion description "[Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behet's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54711.RArNdprM_GbBxNh6KfYKeJD8mE4VwV0a-zfp-j2ngcb0A130_provenance.
- NP54716.RAiKX08zqZAVk-upo9QXkCQDqEitBaVt8hGsATOhcujBk130_assertion description "[ There is an association of the region containing the HLA-DQ and HLA-DR genes with the risk of developing squamous cell carcinoma. An increased risk was observed for carriers of allele 184 at the MICA locus, in particular for homozygotes, suggesting a recessive effect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54716.RAiKX08zqZAVk-upo9QXkCQDqEitBaVt8hGsATOhcujBk130_provenance.
- NP54717.RAnpbDgh8x4R5DQ2D81c5hK0kzhXyrDZxbR6u5bTBoQaQ130_assertion description "[The results show that the distribution of MICA microsatellite is different in these population groups, and the polymorphism information contents (PIC) of this microsatellite is high. It is a potential useful marker in the study of human origin and migration, personal identification, gene mapping and location, and disease diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54717.RAnpbDgh8x4R5DQ2D81c5hK0kzhXyrDZxbR6u5bTBoQaQ130_provenance.
- NP54720.RAiCDhGKXcgLFIm5mWwlZSVOyEhXQp5IkXoZKNBG7tZLU130_assertion description "[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54720.RAiCDhGKXcgLFIm5mWwlZSVOyEhXQp5IkXoZKNBG7tZLU130_provenance.
- NP54724.RAnOfNtAOZIOnFi6UV76YnclGAvS2-4WpZQum0fK99UJ4130_assertion description "[We conclude that the MICA alanine repeat is not a disease-associated factor in POHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54724.RAnOfNtAOZIOnFi6UV76YnclGAvS2-4WpZQum0fK99UJ4130_provenance.
- NP54727.RAmcQj5057fKGabKWx7XuJz68EmbYYYdE-cuJJcLv20cU130_assertion description "[not included in abstract]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54727.RAmcQj5057fKGabKWx7XuJz68EmbYYYdE-cuJJcLv20cU130_provenance.
- NP54736.RAoyOhNLSKaK-W6THH1o-K4os4BHxA-3Spv_PN5YI0cNk130_assertion description "[Association between lung cancer risk and single nucleotide polymorphisms in the first intron and codon 178 of the DNA repair gene, O6-alkylguanine-DNA alkyltransferase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54736.RAoyOhNLSKaK-W6THH1o-K4os4BHxA-3Spv_PN5YI0cNk130_provenance.
- NP54746.RAkgN13MgOAcNmLcoeZtLSpTiwtzJOZWw1oTfahaqpDlc130_assertion description "[ Our results are consistent with ethnic variation in glioma pathogenesis. The data on MGMT show that an inherited factor involving the repair of methylation and other alkylation damage, specifically to the O6 position of guanine, may be associated with the development of tumors that proceed in their development without TP53 mutations or accumulation of TP53 protein and possibly also those that do not involve amplification of the EGFR locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54746.RAkgN13MgOAcNmLcoeZtLSpTiwtzJOZWw1oTfahaqpDlc130_provenance.
- NP54749.RAnBNXzSxdBsYv9bBc8v9JrU8818PYEHyaH0MuL7cUgRY130_assertion description "[These data suggest that the Leu84Phe polymorphism affect the capacity of MGMT to inhibit estrogen receptor-mediated cell proliferation and is associated with$$$ breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54749.RAnBNXzSxdBsYv9bBc8v9JrU8818PYEHyaH0MuL7cUgRY130_provenance.
- NP54750.RAk1e7zu1b6GoboiWyYHACwMWfc_NITx1T2EHp2dJxmms130_assertion description "[Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54750.RAk1e7zu1b6GoboiWyYHACwMWfc_NITx1T2EHp2dJxmms130_provenance.
- NP54768.RAhZriX7huvTGSqfPGr9NHFv5XPu864j-elllVBe3AXKo130_assertion description "[Cushing's disease as the first clinical manifestation of multiple endocrine neoplasia type 1 (MEN1) associated with an R460X mutation of the MEN1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54768.RAhZriX7huvTGSqfPGr9NHFv5XPu864j-elllVBe3AXKo130_provenance.
- NP54776.RAjsNtkup_-odWGQE0EnVjhxw0AlW4ySMM67Bn3N5YZtI130_assertion description "[A total of 19 FMF patients and eight healthy individuals were genotyped for mutations in the MEFV gene and gut bacterial diversity was assessed by sequencing 16S rRNA gene libraries and FISH analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54776.RAjsNtkup_-odWGQE0EnVjhxw0AlW4ySMM67Bn3N5YZtI130_provenance.
- NP54779.RAsY2K_rqJXuNI1QZ1xcGXn-dBmTn9U9WHBJ8plFVSoSI130_assertion description "[We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54779.RAsY2K_rqJXuNI1QZ1xcGXn-dBmTn9U9WHBJ8plFVSoSI130_provenance.
- NP54783.RApqKW7-o57NLkJLHNXZsDO7vMamptKN7QTy7BuD7m1ys130_assertion description "[A high prevalence of Behet's disease (BD) among familial Mediterranean fever (FMF) patients has been described recently and a weak association of BD and certain MEFV gene mutations, originally linked to FMF, has been reported in an ethnically mixed population from France.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54783.RApqKW7-o57NLkJLHNXZsDO7vMamptKN7QTy7BuD7m1ys130_provenance.
- NP54786.RAkxoelYlTuU7ZGav4EIbVYYV6hdGUNudJa92g5Ya6_Lg130_assertion description "[Taken together, these findings further refine the behavioral endophenotype associated with the HOPA(12bp) allele and suggest that the sequence surrounding HOPA may need to be considered to fully understand the molecular basis of the phenotype associated with the HOPA(12bp) allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54786.RAkxoelYlTuU7ZGav4EIbVYYV6hdGUNudJa92g5Ya6_Lg130_provenance.
- NP54789.RAuqwnMITj7f9Y78z3sUZjzTEn06CswqXcr9niT7OGcCY130_assertion description "[In 49 female RTT children, aged 1.9-17 y, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54789.RAuqwnMITj7f9Y78z3sUZjzTEn06CswqXcr9niT7OGcCY130_provenance.
- NP54790.RAlgfau7yFOiAlTje6OKHf2XBzk75iM1aOrDed53sAs7w130_assertion description "[There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54790.RAlgfau7yFOiAlTje6OKHf2XBzk75iM1aOrDed53sAs7w130_provenance.
- NP54792.RAldKZBmOfXs664KZHVQx1KvCPlw9Y1YHnb5uJyUZClkA130_assertion description "[Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54792.RAldKZBmOfXs664KZHVQx1KvCPlw9Y1YHnb5uJyUZClkA130_provenance.
- NP54795.RAi4NT5PFCsCVGc3eAna7Pn3Ktq_wjcXQaw4jGNR6ky6Y130_assertion description "[This is the first genetic study of Rett syndrome in New Zealand patients describing the MECP2 mutational spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54795.RAi4NT5PFCsCVGc3eAna7Pn3Ktq_wjcXQaw4jGNR6ky6Y130_provenance.
- NP54796.RAmaUCFnWSHAEJ7dFsxbcfvif_SqtZ_tEbHrTkIX2iIjE130_assertion description "[The eight most frequent MECP2 mutations were p.T158M (13%), p.R168X (12%), c.806delG (7%), p.R255X (6%), p.R270X (5%), p.R133C (5%), p.R306C (4%), and p.R106W (3%), with p.T158M as the most common of the MECP2 mutations and c.806delG as a hotspot mutation in Chinese patients with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54796.RAmaUCFnWSHAEJ7dFsxbcfvif_SqtZ_tEbHrTkIX2iIjE130_provenance.
- NP54799.RAqYAutxNV9Yt6AbHr4jIpaf38evZXZzwkaTtAIJZc2eY130_assertion description "[The association of a HOPA polymorphism with major depression and phobia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54799.RAqYAutxNV9Yt6AbHr4jIpaf38evZXZzwkaTtAIJZc2eY130_provenance.
- NP54800.RAiReUtjCHHiHwKirT0Jn0FxjjDMLm2LtfHyN4TV01eCw130_assertion description "[The association of a HOPA polymorphism with major depression and phobia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54800.RAiReUtjCHHiHwKirT0Jn0FxjjDMLm2LtfHyN4TV01eCw130_provenance.
- NP54805.RAvUawKLKpSJ9djG5AhRFHHO3eqn93MUvBGYAtzZfITf4130_assertion description "[We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54805.RAvUawKLKpSJ9djG5AhRFHHO3eqn93MUvBGYAtzZfITf4130_provenance.
- NP54809.RAlOqbRIHVf0CrM1JDUdYfn3vT2l2zL6k44RZTpkUnF9w130_assertion description "[The MDM2 protein is a key inhibitor of p53 and several mechanisms of MDM2/p53 interactions are presently known: modulating DNA-repair, cell-cycle control, cell growth and apoptosis.We used 635 Caucasian patients diagnosed with lung cancer before 51 years of age and 1300 healthy gender and age frequency matched population Caucasian controls to investigate the association between the MDM2 SNP309 and the risk of developing early onset lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54809.RAlOqbRIHVf0CrM1JDUdYfn3vT2l2zL6k44RZTpkUnF9w130_provenance.
- NP54813.RAild1PRtdMXsOw00FqQQW273pYY768Mwa4BQkwTMJnOw130_assertion description "[Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54813.RAild1PRtdMXsOw00FqQQW273pYY768Mwa4BQkwTMJnOw130_provenance.
- NP54814.RAii5-r1xipFeNctNPh94CNPXZgUbEJYbSjafSGkNT78o130_assertion description "[Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54814.RAii5-r1xipFeNctNPh94CNPXZgUbEJYbSjafSGkNT78o130_provenance.
- NP54823.RAnIh62OyDwIJKReDZEMTX94GSpZ7no-k_jrkp-mEXqCA130_assertion description "[the association between MDM2 SNP309 and breast cancer is modified by race.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54823.RAnIh62OyDwIJKReDZEMTX94GSpZ7no-k_jrkp-mEXqCA130_provenance.
- NP54833.RAvp781qTTvQsDTomy5jvX1JgQ7PNlozE-BPXj264VJJ0130_assertion description "[Eight variants that showed individual associations with childhood BMI (in/near: FTO, MC4R, TMEM18, GNPDA2, KCTD15, NEGR1, BDNF, and ETV5) were used to derive an `obesity-risk-allele score` comprising the total number of risk alleles (range: 2-15 alleles) in each child with complete genotype data (n = 7,146).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54833.RAvp781qTTvQsDTomy5jvX1JgQ7PNlozE-BPXj264VJJ0130_provenance.
- NP54836.RAkMt2kRl9o5RpnwwAo9qEPuUSeCmikb86aPo66Awl438130_assertion description "[Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85x10(-8) in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84x10(-7)), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54836.RAkMt2kRl9o5RpnwwAo9qEPuUSeCmikb86aPo66Awl438130_provenance.
- NP54838.RAr54u4PrfkARq6EtHixEIX0W-RZyKQQodt8LecTA56DQ130_assertion description "[Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313, rs6265, and rs10938397, in or near obesity-related genes FAIM2, NPC1, FTO, MC4R, BDNF, and GNPDA2, respectively) because of the relatively high minor allele frequencies in Chinese individuals and tested the associations of the SNPs with BMI and obesity in Chinese children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54838.RAr54u4PrfkARq6EtHixEIX0W-RZyKQQodt8LecTA56DQ130_provenance.
- NP54846.RAtHYUMbnt3kDAvZjeP_dUWE77cFrsJScfs4DQsNEIhDU130_assertion description "[ A new 12138InsCAGACC MC3R polymorphism is associated with the level of adiposity and with body fat partitioning in interaction with corpulence in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54846.RAtHYUMbnt3kDAvZjeP_dUWE77cFrsJScfs4DQsNEIhDU130_provenance.
- NP54848.RAuzjGVilexN1F_KVOxJrQ5nfzPou_Uu7NwrBN1jaqGcg130_assertion description "[There is not sufficient evidence to support the contribution for common melanocortin-3 receptor variants in childhood obesity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54848.RAuzjGVilexN1F_KVOxJrQ5nfzPou_Uu7NwrBN1jaqGcg130_provenance.
- NP54852.RAqldJRfI4CaBMUOcB5ytHu84z9qDD0xETS_UfVAFWHZo130_assertion description "[We conclude that IGD in this family appears to be due to defects of the ACTH receptor gene. The oCRH test appears to be useful in ascertaining heterozygosity in this syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54852.RAqldJRfI4CaBMUOcB5ytHu84z9qDD0xETS_UfVAFWHZo130_provenance.
- NP54862.RAhJYOK-hulvr5B5yY15JVifCFlw3pUsQay6Tr9kagnBM130_assertion description "[MC1R germline variants confer risk for BRAF-mutant melanoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54862.RAhJYOK-hulvr5B5yY15JVifCFlw3pUsQay6Tr9kagnBM130_provenance.
- NP54870.RAiyJN3AgvJh86GC5EGCGs-JUF-Xwq7f0WH8VyLvOCk5w130_assertion description "[Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54870.RAiyJN3AgvJh86GC5EGCGs-JUF-Xwq7f0WH8VyLvOCk5w130_provenance.