Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP51938.RAhvMwBwpR78QuDAAx5iLVLhlrdzlDYrourZw5WQRGci0130_assertion description "[Polymorphisms of the plasminogen activator inhibitor-1 gene in type 1 and type 2 diabetes, and in patients with diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51938.RAhvMwBwpR78QuDAAx5iLVLhlrdzlDYrourZw5WQRGci0130_provenance.
- NP51944.RAr5MSrOfGgMhnrkHqVBdg1vQ6Z9DV1fFxM5ISXfuqiNU130_assertion description "[Plasminogen activator inhibitor 1 (PAI-1) content in colorectal cancer tissue extracts may be of strong prognostic value: high levels of PAI-1 in tumours predict poor prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51944.RAr5MSrOfGgMhnrkHqVBdg1vQ6Z9DV1fFxM5ISXfuqiNU130_provenance.
- NP51949.RAoCE1Qv598A4yFfzv6SjGOLYfMMC7m29gpXICvGPhpC0130_assertion description "[We found that the distribution of PAI-1 genotypes in the idiopathic interstitial pneumonia population was similar to that of a large control population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51949.RAoCE1Qv598A4yFfzv6SjGOLYfMMC7m29gpXICvGPhpC0130_provenance.
- NP51952.RAmlRXkeDnAd9AjP9rm9ZzujFlReahC4qsnHvqlQNCVIc130_assertion description "[A stronger association occurred in non-smokers (P = 0.00021, P(corr) < 0.01; P = 0.0024, P(corr) < 0.05) where the presence of the PAI-1 gene 4G allele appears to be one of the risk factors for periodontitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51952.RAmlRXkeDnAd9AjP9rm9ZzujFlReahC4qsnHvqlQNCVIc130_provenance.
- NP51958.RAhK6R26AznTzTw7x2Dx37zzIb5rG93ei2khWrbAMBim4130_assertion description "[A genetic interaction is biologically plausible between FcepsilonRI-beta and the plasminogen activator inhibitor 1 (PAI-1), which is highly expressed in mast cells in asthmatics and plays an essential role in airway remodelling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51958.RAhK6R26AznTzTw7x2Dx37zzIb5rG93ei2khWrbAMBim4130_provenance.
- NP51972.RAqHE4Czj_PE1hVlu_znvWcANnvE66UcnV8CqcTqTyErM130_assertion description "[The fact that we were not able to detect causal mutations in the PCI gene does not necessarily lead to the conclusion that the PCI protein is not involved in human male fertility, but the results of our study indicate that mutations in the human PCI gene are not a common cause of reduced semen parameters in men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51972.RAqHE4Czj_PE1hVlu_znvWcANnvE66UcnV8CqcTqTyErM130_provenance.
- NP51974.RAshZfE_a5QMQrLLUQDVtx9fjXGlDr5c0TsuhnQ5opRuw130_assertion description "[Chronic obstructive pulmonary disease. 1: Susceptibility factors for COPD the genotype-environment interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51974.RAshZfE_a5QMQrLLUQDVtx9fjXGlDr5c0TsuhnQ5opRuw130_provenance.
- NP51976.RAgoWA8kW6tH3MPc48ov-JMikRC823BJy3nKkp6kGo5k4130_assertion description "[Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51976.RAgoWA8kW6tH3MPc48ov-JMikRC823BJy3nKkp6kGo5k4130_provenance.
- NP51979.RAiACRB2Eo_tO0A8fQeHQZCTsJgazVYmS0FGzqSBy21aM130_assertion description "[We conclude that alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51979.RAiACRB2Eo_tO0A8fQeHQZCTsJgazVYmS0FGzqSBy21aM130_provenance.
- NP51981.RAiiKbcns6Ayfv_BLZXjnqA0nkTrMp774IjbJHwEynA7o130_assertion description "[ The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51981.RAiiKbcns6Ayfv_BLZXjnqA0nkTrMp774IjbJHwEynA7o130_provenance.
- NP51985.RApM-NEP_yh8U1coA-ycn92y7fUlA1wW21P_EbewiFv4s130_assertion description "[A combination of different alpha1-ACT and ApoE genotypes appears not to enhance the risk of developing s-IBM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51985.RApM-NEP_yh8U1coA-ycn92y7fUlA1wW21P_EbewiFv4s130_provenance.
- NP51993.RAkLDgyLybPS7lcljgQgO_spkLAc95UEt2VRTh6YO4Jh8130_assertion description "[An HLA-D region restriction fragment length polymorphism associated with celiac disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51993.RAkLDgyLybPS7lcljgQgO_spkLAc95UEt2VRTh6YO4Jh8130_provenance.
- NP51998.RApU6jjbv_-jsc2hzaPlP2q8BDfHiP1IwUd5z3dk1QdtA130_assertion description "[The microsatellite locus of exon 5 of the MICA gene and intron 1 of the MICB gene could therefore be used as genetic markers in the studies of anthropology, gene linkage analysis in genetic diseases, individual identification and paternity testing in forensic medicine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51998.RApU6jjbv_-jsc2hzaPlP2q8BDfHiP1IwUd5z3dk1QdtA130_provenance.
- NP52006.RArLK4YB56jJBP8ht8qko-1LjWdYHIYqyXWnDrJ_IK3CY130_assertion description "[Results of a case-detection programme for alpha1-antitrypsin deficiency in COPD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52006.RArLK4YB56jJBP8ht8qko-1LjWdYHIYqyXWnDrJ_IK3CY130_provenance.
- NP52008.RAu3vh6Fb125jaIPBwPeAQh8gjJfTv9NdTVK0PM2NVodQ130_assertion description "[Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52008.RAu3vh6Fb125jaIPBwPeAQh8gjJfTv9NdTVK0PM2NVodQ130_provenance.
- NP52021.RAlOQjLMy21Zrk_TvMdrBThfSzXRzDIWlqCJJnFnWzDLk130_assertion description "[ We did not find evidence to support an association between mutant PI* alleles and periodontitis in a small, controlled study. Larger studies will be required to clarify the relationship between alpha1-antitrypsin genotype and susceptibility to inflammatory periodontal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52021.RAlOQjLMy21Zrk_TvMdrBThfSzXRzDIWlqCJJnFnWzDLk130_provenance.
- NP52024.RAiLUF-aeS4R7x9hhZVWv5QqI77k9ZYKiSBtu2hf4bpsw130_assertion description "[Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52024.RAiLUF-aeS4R7x9hhZVWv5QqI77k9ZYKiSBtu2hf4bpsw130_provenance.
- NP52035.RAl9cie-RLwdoo-6SL_X6jTC6wlv-EG94otUJ43c9CYzk130_assertion description "[By using PCR-SSPs we genotyped 261 CHD patients and 214 controls for 5 SNPs in P-selectin and 2 SNPs in PSGL-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52035.RAl9cie-RLwdoo-6SL_X6jTC6wlv-EG94otUJ43c9CYzk130_provenance.
- NP52038.RAmONrBjhdVYbAGKCFmgUP4etjx3BFCIbfIGUGHVR4QB8130_assertion description "[Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52038.RAmONrBjhdVYbAGKCFmgUP4etjx3BFCIbfIGUGHVR4QB8130_provenance.
- NP52041.RAu-x7UAlNaTzXtCsjHwrFogq-4l5AA-VQ2Zd3KNpOnmE130_assertion description "[Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52041.RAu-x7UAlNaTzXtCsjHwrFogq-4l5AA-VQ2Zd3KNpOnmE130_provenance.
- NP52044.RAiEp-GUBeL3e-f5JkoPfjsQW76EPujXHoO4GzprpIBA4130_assertion description "[SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52044.RAiEp-GUBeL3e-f5JkoPfjsQW76EPujXHoO4GzprpIBA4130_provenance.
- NP52049.RAos7D6yecl1tuMQ35jFtX-8p_6R_wj5IA1TeChxzasbo130_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." NP52049.RAos7D6yecl1tuMQ35jFtX-8p_6R_wj5IA1TeChxzasbo130_provenance.
- NP52060.RAselxKge5RFaFB4yj4JRpSUFQdZJPCRfWJXnsKlIRwvc130_assertion description "[E-Selectin plasma levels are modulated by the E-Selectin Ser128Arg genotype, and predict the risk for restenosis after PTA in patients with PAD. A direct association of the Ser128Arg polymorphism with late postangioplasty failure could not be demonstrated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52060.RAselxKge5RFaFB4yj4JRpSUFQdZJPCRfWJXnsKlIRwvc130_provenance.
- NP52062.RAuVoz4jTzsXy7utKMqDRfx5azCsE_pKmvREvlcoFv588130_assertion description "[The E-selectin p. S128R (g. A561C) polymorphism has been associated with the presence of angiographic coronary artery disease (CAD) in some populations, but no data is currently available on its association with CAD in Arabs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52062.RAuVoz4jTzsXy7utKMqDRfx5azCsE_pKmvREvlcoFv588130_provenance.
- NP52063.RAus_q_aLGyf5DbRYcUDR8r030_Occ1YryYCu-tFbG02A130_assertion description "[We designed a case-control association study that was based on linkage disequilibrium among single-nucleotide polymorphisms (SNPs) in the selectin gene cluster on chromosome 1q24-25, and we found two SNPs in the E-selectin gene (SELE8 and SELE13) and six SNPs in the L-selectin gene (SELL1, SELL4, SELL5, SELL6, SELL10, and SELL11) that were significantly associated with IgAN in Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52063.RAus_q_aLGyf5DbRYcUDR8r030_Occ1YryYCu-tFbG02A130_provenance.
- NP52067.RAuXLombI_EVrPeSqZLoHPBTg14veQYLGulUUlOTDaEvw130_assertion description "[E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52067.RAuXLombI_EVrPeSqZLoHPBTg14veQYLGulUUlOTDaEvw130_provenance.
- NP52072.RAmu7VwhGm9etm9mxaQpKjr4Wa6wT1bY__T8eNakI-u6s130_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." NP52072.RAmu7VwhGm9etm9mxaQpKjr4Wa6wT1bY__T8eNakI-u6s130_provenance.
- NP52079.RAmCRksLWYzMikk1mqhLXtf1XXPzd-vdg9UtB-b9fJclY130_assertion description "[In the light of the highly polymorphic nature of both microsatellites and their intragenic location in SEL1L gene, we suggest that they could provide a means for linkage analysis to clarify the potential role of SEL1L in conferring susceptibility to IDDM or Grave's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52079.RAmCRksLWYzMikk1mqhLXtf1XXPzd-vdg9UtB-b9fJclY130_provenance.
- NP52080.RAh_xMCWxKcPD0XlPpBT-mUAWfQAq_LUgRQmahJSVdhBk130_assertion description "[While the frequency of non-coding, intronic polymorphisms did not differ in MTC patients compared with a control population, an accumulation of amino-acid coding polymorphisms (S163P in SDHB as well as G12S and H50R in SDHD) was found among MTC patients especially patients with familial tumors, suggesting a functional connection of coding SDH polymorphisms to activating Ret mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52080.RAh_xMCWxKcPD0XlPpBT-mUAWfQAq_LUgRQmahJSVdhBk130_provenance.
- NP52082.RAqUpSq1NZx452NgyJ02GP1j72b8R847fOUYE2KSucIb8130_assertion description "[Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52082.RAqUpSq1NZx452NgyJ02GP1j72b8R847fOUYE2KSucIb8130_provenance.
- NP52084.RAvPglrnFlJ9bWipmSsMOCd1J59t2Ezfyk5HS812uKcBc130_assertion description "[We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52084.RAvPglrnFlJ9bWipmSsMOCd1J59t2Ezfyk5HS812uKcBc130_provenance.
- NP52092.RAiWWIiE_gP7tngOwHXh9F20h__Mp2sHwhezNjJgpGXjA130_assertion description "[Genetic factors are relevant and independent determinants of antihypertensive drug effects in a multiracial population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52092.RAiWWIiE_gP7tngOwHXh9F20h__Mp2sHwhezNjJgpGXjA130_provenance.
- NP52094.RAroeGnWbtla8Laxv0_93NdYPAJYKEgyaiuFpfELT2LLg130_assertion description "[ At least 9% of Finnish patients with hypertension admitted to a specialized center carry genetic variants of beta and gammaENaC, a three times higher prevalence than in the normotensive individuals or in random healthy controls. Patients with the variant alleles showed an increased urinary potassium excretion rate in relation to their renin levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52094.RAroeGnWbtla8Laxv0_93NdYPAJYKEgyaiuFpfELT2LLg130_provenance.
- NP52095.RAm6_GDzNni8Fgw7YbmtkPzGU7aVs2EQuUqVsODVbawos130_assertion description "[ These results do not support an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of African ancestry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52095.RAm6_GDzNni8Fgw7YbmtkPzGU7aVs2EQuUqVsODVbawos130_provenance.
- NP52112.RAnlKUdK-CuC1fYtDFUxT7AzV5rbK35t5ipW2_sr435Og130_assertion description "[Cardiac ion channel gene mutations in Greek long QT syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52112.RAnlKUdK-CuC1fYtDFUxT7AzV5rbK35t5ipW2_sr435Og130_provenance.
- NP52119.RAltn5gtoZB9YueBVyLl9dT2YxdPm-iLR7I5MXClEdfUc130_assertion description "[Brugada syndrome patients with, and those without, an SCN5A mutation can be differentiated by phenotypical differences.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52119.RAltn5gtoZB9YueBVyLl9dT2YxdPm-iLR7I5MXClEdfUc130_provenance.
- NP52120.RAomrI6UuuhmWOkNhggB57pDgnT01fcFv4wlIjUS5c3hQ130_assertion description "[Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52120.RAomrI6UuuhmWOkNhggB57pDgnT01fcFv4wlIjUS5c3hQ130_provenance.
- NP52121.RAg6gCi-Xo3yV2nQEDhv7LHjTExKfDTqsMdPV3tH3Xqus130_assertion description "[Loss of function mutations in SCN5A, encoding the cardiac sodium channel, are one cause of the Brugada syndrome, associated with slow conduction and a high incidence of ventricular fibrillation, especially in Asians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52121.RAg6gCi-Xo3yV2nQEDhv7LHjTExKfDTqsMdPV3tH3Xqus130_provenance.
- NP52128.RAjs-DsS1JWmirL95qWQpP53ug5aPpvTFOuy_nsqs1j4E130_assertion description "[To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel electrophoresis and manual sequencing of variants; the sample included 165 probands from multiplex families and 61 sporadic cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52128.RAjs-DsS1JWmirL95qWQpP53ug5aPpvTFOuy_nsqs1j4E130_provenance.
- NP52144.RAsf8mrovQu-aNU9o_tFZM8VK0y5X8nzje9JhfTu1H26E130_assertion description "[Our association study revealed that, IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 regions might not confer susceptibility to Chinese GD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52144.RAsf8mrovQu-aNU9o_tFZM8VK0y5X8nzje9JhfTu1H26E130_provenance.
- NP52147.RAjqbT9hz2Uee_b0Jp0TCBjeVGrHeXChfoGR97oPd6JVA130_assertion description "[CC16 gene may be not a susceptibility gene of asthmatic patients of Han population in southwest China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52147.RAjqbT9hz2Uee_b0Jp0TCBjeVGrHeXChfoGR97oPd6JVA130_provenance.
- NP52148.RAhQ5twIc-UH7__Ogpv03FxnNOGijfSFSoR4uePOHc9bM130_assertion description "[Human uteroglobin gene polymorphisms and genetic susceptibility to asthma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52148.RAhQ5twIc-UH7__Ogpv03FxnNOGijfSFSoR4uePOHc9bM130_provenance.
- NP52152.RAixeVGC4Hvj6rKQyxDeaRJjvWgLCo8Nr6PLny56eUfdE130_assertion description "[Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52152.RAixeVGC4Hvj6rKQyxDeaRJjvWgLCo8Nr6PLny56eUfdE130_provenance.
- NP52153.RAlgUz7l9oYUQlqSo83yE1Y1NRQKoBRYX0kS-FSOsyCz8130_assertion description "[ Plasma levels of sCD14 and CC16 were higher during acute asthma in the subjects. Those with CD14 -159CC and CC16 38AA had no change in sCD14 and CC16 levels and more severe asthma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52153.RAlgUz7l9oYUQlqSo83yE1Y1NRQKoBRYX0kS-FSOsyCz8130_provenance.
- NP52159.RAsx5hPMpj1ju_seu71AaNYMnaPJL5bri1BwZ72McQGWc130_assertion description "[There is no information on where serum UG is produced or how UG may work in association with IgA nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52159.RAsx5hPMpj1ju_seu71AaNYMnaPJL5bri1BwZ72McQGWc130_provenance.
- NP52161.RAtVK6L-L5--J45z1hkxprj5EBOD3dpCjnrj4vS-xJbH4130_assertion description "[We suggest that uteroglobin G38A polymorphism is not related to the development and progression of IgA nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52161.RAtVK6L-L5--J45z1hkxprj5EBOD3dpCjnrj4vS-xJbH4130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion description "[The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52166.RAu_NRW0rU5Bv7KQ98Z4IfOKPGqqd2PhwZvbt0TmqsHDA130_assertion description "[ These data suggest a plausible genetic interaction between the CLA-1 exon 8 gene polymorphism and the risk of CHD in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52166.RAu_NRW0rU5Bv7KQ98Z4IfOKPGqqd2PhwZvbt0TmqsHDA130_provenance.
- NP52173.RAkj3A-t2DH0Aw9yyEpmxTIJjN9ts3OetSrQciX_6ODpc130_assertion description "[In approximately 50% of MH cases a causative RYR1 mutation was found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52173.RAkj3A-t2DH0Aw9yyEpmxTIJjN9ts3OetSrQciX_6ODpc130_provenance.
- NP52175.RAkvmJ85q8T3Wo4uFgJ6JG2JZ1B8-O1kjVDMQwsiWUcP0130_assertion description "[A linkage between the MH trait and the RYR1 locus in chromosome 19 was demonstrated, whereas no already known mutations were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52175.RAkvmJ85q8T3Wo4uFgJ6JG2JZ1B8-O1kjVDMQwsiWUcP0130_provenance.
- NP52183.RAsBYqqKcnaaunY8P21RviOOYoytrZcgUmcATT0u_5jOw130_assertion description "[These data suggest that RXRgamma may contribute to disordered lipid metabolism in members of familial T2DM kindreds, but this gene is unlikely to explain the linkage of T2DM with this region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52183.RAsBYqqKcnaaunY8P21RviOOYoytrZcgUmcATT0u_5jOw130_provenance.
- NP52188.RAqWo4vXxV9EhoPcXNqcxDJKONIxVCvUkdKini68RPFmY130_assertion description "[High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52188.RAqWo4vXxV9EhoPcXNqcxDJKONIxVCvUkdKini68RPFmY130_provenance.
- NP52191.RAr-hioYRNgRlRVv2oZyleZSn0UQpEVx9vyY6-_HjRjDE130_assertion description "[Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52191.RAr-hioYRNgRlRVv2oZyleZSn0UQpEVx9vyY6-_HjRjDE130_provenance.
- NP52193.RAr5BRfqv3mTV3goolr79Ntc9D85A5n9xg3sIliTlfAOU130_assertion description "[Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52193.RAr5BRfqv3mTV3goolr79Ntc9D85A5n9xg3sIliTlfAOU130_provenance.
- NP52195.RAm1ykfZ_E1f62b3jLU9odztpcr3jkwtZNXDBVU8voug0130_assertion description "[ Although more detailed functional characterizations of these polymorphisms remain to be undertaken, these polymorphic sites may be useful for identifying alleles associated with mis-splicing, additional transcript factors and, more generally, in cancer-susceptibility association studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52195.RAm1ykfZ_E1f62b3jLU9odztpcr3jkwtZNXDBVU8voug0130_provenance.
- NP52197.RAizc-Ua3xhk57pf_aHdsmXZH97jcUsn215BalHrpQWKo130_assertion description "[Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52197.RAizc-Ua3xhk57pf_aHdsmXZH97jcUsn215BalHrpQWKo130_provenance.
- NP52202.RAieIzcA9fblB8U6dL3V0b4dz4Hhs7bY0EDDnD7WuECZ4130_assertion description "[RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52202.RAieIzcA9fblB8U6dL3V0b4dz4Hhs7bY0EDDnD7WuECZ4130_provenance.
- NP52205.RApIf6iJimwNiDLYPiaBH3_sKC8PN2ktPM3tZdfuFqBqI130_assertion description "[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52205.RApIf6iJimwNiDLYPiaBH3_sKC8PN2ktPM3tZdfuFqBqI130_provenance.
- NP52207.RAkw3f2hIaHHw2RCbusnRsxPifo0LRCfoT9Pqfy-RqrpE130_assertion description "[Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52207.RAkw3f2hIaHHw2RCbusnRsxPifo0LRCfoT9Pqfy-RqrpE130_provenance.
- NP52210.RApi6-7DAFm6cDxpItMRFnhmwZUvt7Ie8qP1BxrwO2GrY130_assertion description "[Identification of four gene variants associated with myocardial infarction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52210.RApi6-7DAFm6cDxpItMRFnhmwZUvt7Ie8qP1BxrwO2GrY130_provenance.
- NP52211.RAiZy-jpLBW-nEyBsr6HgBdcyGxeLrSBV9LwirIiguBnU130_assertion description "[The results obtained in this study argue against associations of specific single nucleotide polymorphisms in the PALLD, ROS1, TAS2R50, OR13G1, and ZNF627 genes with myocardial infarction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52211.RAiZy-jpLBW-nEyBsr6HgBdcyGxeLrSBV9LwirIiguBnU130_provenance.
- NP52216.RArwBoOZ1ArIUV3mbPfAS7xym3lfIKsBcnvQAMUWxsDcc130_assertion description "[Genetic variation in RNASEL associated with prostate cancer risk and progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52216.RArwBoOZ1ArIUV3mbPfAS7xym3lfIKsBcnvQAMUWxsDcc130_provenance.
- NP52217.RAsCP7ud_9umnRotrB9bD9GRmTlLbOmi7HhsxC3XoYPDo130_assertion description "[Results suggest that variants in RNASEL contribute to susceptibility to early onset and familial forms of prostate cancer, whereas HPCX variants are associated with prostate cancer risk and tumor aggressiveness. The observation that a mutation predicted to completely inactivate RNASEL protein was not associated with prostate cancer, but that a missense variant was associated, suggests that the effect is due to either partial inactivation of the protein, and/or acquisition of a new protein activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52217.RAsCP7ud_9umnRotrB9bD9GRmTlLbOmi7HhsxC3XoYPDo130_provenance.
- NP52220.RAs9bn1j52EzO7_XxxhJWHrTz5OnHcxbGWtfXr4V-DDqQ130_assertion description "[Our prospective study suggests that genetic variation in IL10 and possibly TLR4 is associated with prostate cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52220.RAs9bn1j52EzO7_XxxhJWHrTz5OnHcxbGWtfXr4V-DDqQ130_provenance.
- NP52224.RAiqc_xr5qu1Nzcsun1c3mayyJbCcYmuTdzWykfvgS-uU130_assertion description "[RNASEL germline variants are associated with pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52224.RAiqc_xr5qu1Nzcsun1c3mayyJbCcYmuTdzWykfvgS-uU130_provenance.
- NP52237.RArxLsrb7D3Ovoph1eWhUuGJ-jgUin22UN810UZGXn6wk130_assertion description "[Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52237.RArxLsrb7D3Ovoph1eWhUuGJ-jgUin22UN810UZGXn6wk130_provenance.
- NP52240.RAuogd9MlCoTPrABQgg1PmdQTOEG3hpFfLpi7VMW5OoZM130_assertion description "[Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52240.RAuogd9MlCoTPrABQgg1PmdQTOEG3hpFfLpi7VMW5OoZM130_provenance.
- NP52247.RAuwkWOlOYMP2ias5OTD39JMjZC5hGm313I8ysHCr0FDM130_assertion description "[To further understand the relationship of RGS4 variants to schizophrenia, we examined their associations with cognitive functions among schizophrenia patients and their relatives.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52247.RAuwkWOlOYMP2ias5OTD39JMjZC5hGm313I8ysHCr0FDM130_provenance.
- NP52252.RAlQ8NijhNAdkvcALb4ZbGuHm3eUo-fWoG9yvkzBzqI4E130_assertion description "[Our data give modest support for the hypothesis that the regulator of G-protein signaling 4 is a susceptibility gene for schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52252.RAlQ8NijhNAdkvcALb4ZbGuHm3eUo-fWoG9yvkzBzqI4E130_provenance.
- NP52258.RApaRoClDcxWyI-dRs-mZh8qtcm85pm21GuJedgo2mwGw130_assertion description "[Are RGS2 gene polymorphisms associated with high blood pressure in an ethnicity- and gender-specific manner?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52258.RApaRoClDcxWyI-dRs-mZh8qtcm85pm21GuJedgo2mwGw130_provenance.
- NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_assertion description "[The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52262.RApHmk2uGqEoB2Ih3Tgg8HEYmlih113802ra2X_xXZJaw130_provenance.
- NP52263.RAjXLC97xoFxc7i0VK44VWBWPphB24OmzlPfSTpoG37c8130_assertion description "[Present results seem to indicate that none of the RFC-1 80G>A, MTHFR 677C>T, and MTHFR 1298A>C polymorphisms is an independent risk factor for a DS offspring at a young maternal age; however, a role for the combined MTHFR/RFC-1 genotypes in the risk of DS pregnancies among young Italian women cannot be excluded.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52263.RAjXLC97xoFxc7i0VK44VWBWPphB24OmzlPfSTpoG37c8130_provenance.
- NP52266.RApiPEfpravIT33zet3MOw2ZrDFFi-Te6yPNQiXj9iUl0130_assertion description "[Our findings suggest that HTR5A gene could play an important role in the pathogenesis of bipolar disorder in our population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52266.RApiPEfpravIT33zet3MOw2ZrDFFi-Te6yPNQiXj9iUl0130_provenance.
- NP52288.RAg47w7JWYd8C_PmiPHjVv7UPJFCRB74VoaZ_3fQQgwNE130_assertion description "[The +299(G>A) resistin gene polymorphism and susceptibility to type 2 diabetes in Thais.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52288.RAg47w7JWYd8C_PmiPHjVv7UPJFCRB74VoaZ_3fQQgwNE130_provenance.
- NP52295.RAnQWkowcCVvAbVH6vSku6B8JuIRptFywdmKtY_uDdmw8130_assertion description "[RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52295.RAnQWkowcCVvAbVH6vSku6B8JuIRptFywdmKtY_uDdmw8130_provenance.
- NP52302.RAoyKRv5iugor7IfEY8zj39Zqdg9Gb0t6Ge3MWIr4L1js130_assertion description "[Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52302.RAoyKRv5iugor7IfEY8zj39Zqdg9Gb0t6Ge3MWIr4L1js130_provenance.
- NP52303.RAhe8Zmy95oDboObWzxOd6S9tnllVXq8jsTMoRjiPFsNw130_assertion description "[RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52303.RAhe8Zmy95oDboObWzxOd6S9tnllVXq8jsTMoRjiPFsNw130_provenance.
- NP52307.RAjxOz2bi1gw27Ci7AwiPyw5eVBnVGduXKxoZn4WSxohQ130_assertion description "[Traditional RET germline mutations account for a small subset of Hirschsprung disease patients, but several studies have shown that there is a specific haplotype of RET associated with the sporadic forms of Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52307.RAjxOz2bi1gw27Ci7AwiPyw5eVBnVGduXKxoZn4WSxohQ130_provenance.
- NP52311.RAhvomG6s12gxswPcm05sTUwEHAx55Duc-8PQi_3PUcWo130_assertion description "[Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52311.RAhvomG6s12gxswPcm05sTUwEHAx55Duc-8PQi_3PUcWo130_provenance.
- NP52313.RAlNvxHVRIlyUrkX-tGXVqxgZloa4wAA6WpxTCrtO2beE130_assertion description "[Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52313.RAlNvxHVRIlyUrkX-tGXVqxgZloa4wAA6WpxTCrtO2beE130_provenance.
- NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_assertion description "[ We report a full clinical and molecular analysis of a large FMTC kindred with an uncommon RET mutation. In two family members, phenotype and genotype were not concordant, representing the first evidence of FMTC phenocopies. Furthermore, the association of familial forms of medullary and papillary thyroid cancers has been found in 30% of patients undergoing thyroidectomy for MTC. In these situations, genetic analyses excluded the possible germline involvement of RET. Though FMTC phenocopies are likely to represent an exceptional finding, such a possibility should be taken into account in the genetic counselling for MEN 2 syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52320.RAiKZRGMultkGtqBe8jzd_vWw_Hq0lyDYcpa4nBIp4bkY130_provenance.
- NP52321.RAmNRBvZpn2zxmrlVw3w9LeHiwxlkRXtRDiC3ZlDjt1f4130_assertion description "[Multiple genetic alterations are more common in younger patients with papillary thyroid cancer, but there is no difference in the type or number of genetic alterations by gender.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52321.RAmNRBvZpn2zxmrlVw3w9LeHiwxlkRXtRDiC3ZlDjt1f4130_provenance.
- NP52326.RAjcqhOucAkhUqRrwBRBkqZ6uh65tD0XDPlnT1XQnYx2g130_assertion description "[The results are evidence of similarities and some definite differences in genetic nature of the different forms of low-renin AH and, to say more widely, argue that the investigation of genetic predisposition for clinically heterogeneous forms of polygene diseases by comparison of groups of patients, separated in accordance with peculiarities of disease course, holds much promise for their hereditary background understanding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52326.RAjcqhOucAkhUqRrwBRBkqZ6uh65tD0XDPlnT1XQnYx2g130_provenance.
- NP52328.RAqYx8L6JXF3WeFdr1ZoSFlj6FXW--D5tVN5mwXBPalR4130_assertion description "[In the present study, we evaluated the contribution of six genetic polymorphisms of the Renin-Angiotensis-Aldosterone system (RAAS) and clinical risk factors in the development of essential hypertension in a Brazilian rural population in the Amazon region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52328.RAqYx8L6JXF3WeFdr1ZoSFlj6FXW--D5tVN5mwXBPalR4130_provenance.
- NP52334.RAt-btDc5bopLmnyYf8CNumM7Kp7L9voNoDwpw9VzPvJE130_assertion description "[Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52334.RAt-btDc5bopLmnyYf8CNumM7Kp7L9voNoDwpw9VzPvJE130_provenance.
- NP52337.RAuHoOjdzUlg4DFSwpGWbmbGWHECONZ3dfaYub1h5E_B0130_assertion description "[The strongest effects on cognitive functions were detected among the affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52337.RAuHoOjdzUlg4DFSwpGWbmbGWHECONZ3dfaYub1h5E_B0130_provenance.
- NP52338.RAgZKckE4xawXTHLHk2Kiv7tEDkHXCx219s81ZvqDDhbk130_assertion description "[Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52338.RAgZKckE4xawXTHLHk2Kiv7tEDkHXCx219s81ZvqDDhbk130_provenance.
- NP52341.RAo9Mdaj8Au3VwKEnkVjLZVUjKtAQmpu7udKUSDbB6NqQ130_assertion description "[Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52341.RAo9Mdaj8Au3VwKEnkVjLZVUjKtAQmpu7udKUSDbB6NqQ130_provenance.
- NP52345.RAkvTfj6eJqHbp1OS_2PJGdBuoZg-QuBRJb7iyp969nyc130_assertion description "[High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52345.RAkvTfj6eJqHbp1OS_2PJGdBuoZg-QuBRJb7iyp969nyc130_provenance.
- NP52350.RApveTJBKQezsTbxnWzEiMKFp3V8v2e0cUVDhj8w52SIA130_assertion description "[To our knowledge this is the first study of DNA repair gene polymorphisms and risk of testicular cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52350.RApveTJBKQezsTbxnWzEiMKFp3V8v2e0cUVDhj8w52SIA130_provenance.
- NP52351.RAuAcaPBwH34oxWaPL2Mb86BAsSw4uLpuk2sVk-ZRAPvI130_assertion description "[ Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52351.RAuAcaPBwH34oxWaPL2Mb86BAsSw4uLpuk2sVk-ZRAPvI130_provenance.
- NP52353.RAqWMBymzqXIuZ0vIHPeX51Ptcnn73I2-CUPWjcXwVndE130_assertion description "[Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52353.RAqWMBymzqXIuZ0vIHPeX51Ptcnn73I2-CUPWjcXwVndE130_provenance.
- NP52355.RAmbR9jQ18SwKcywa-c69GVEwUoaS98SrNcXryjw9ERxQ130_assertion description "[To determine the frequency of peripherin/RDS (retinal degeneration slow) gene mutations in Japanese patients with retinal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52355.RAmbR9jQ18SwKcywa-c69GVEwUoaS98SrNcXryjw9ERxQ130_provenance.
- NP52356.RAqo7fkkurZvuEWjfljifVo3Oh-k8Cb-B6ndvVg3ep18A130_assertion description "[To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52356.RAqo7fkkurZvuEWjfljifVo3Oh-k8Cb-B6ndvVg3ep18A130_provenance.
- NP52362.RAn208CFr3Lba48bpzGKAANgP08is6k5Rrs4zRqvb8llM130_assertion description "[Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52362.RAn208CFr3Lba48bpzGKAANgP08is6k5Rrs4zRqvb8llM130_provenance.
- NP52364.RAmXR2CueWK2lsmHP8OVGvEbWHotyJMiKUPGsbth34Cwg130_assertion description "[Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52364.RAmXR2CueWK2lsmHP8OVGvEbWHotyJMiKUPGsbth34Cwg130_provenance.
- NP52365.RAvbVDMvG6ck8qwyL88uXpv446DZSKfMI3ijJeqquqoPw130_assertion description "[The analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Gene profiling of tumors will help to clarify the genetic background linked to ethnicity and variable expre]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52365.RAvbVDMvG6ck8qwyL88uXpv446DZSKfMI3ijJeqquqoPw130_provenance.
- NP52378.RApFB8zul2TFe9dYV6QytHWs1YcVEa2Wv-vFeceIymf9o130_assertion description "[Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52378.RApFB8zul2TFe9dYV6QytHWs1YcVEa2Wv-vFeceIymf9o130_provenance.
- NP52386.RAle6opyiaDHcePNAQkATUI1egTuRTc_SaIAvSk1ve4t4130_assertion description "[We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT) allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT) promoter polymorphism in the tumor necrosis factor (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT) allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52386.RAle6opyiaDHcePNAQkATUI1egTuRTc_SaIAvSk1ve4t4130_provenance.
- NP52391.RAqHvAnkSC5kMM3RIUxqdlGl74WqLwcdbZdtrliCih_x4130_assertion description "[ These data suggest that the 82 Ser allele of the RAGE gene is a risk allele for developing advanced nephropathy. This suggests that some RAGE gene polymorphisms may be associated with progression to diabetic advanced nephropathy in Caucasian type 1 diabetic patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52391.RAqHvAnkSC5kMM3RIUxqdlGl74WqLwcdbZdtrliCih_x4130_provenance.