Nanopublications LDF server

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

• NP150305.RArkC6LNsy6qjDvYJQZs5OyjuX1PlpXXiOBjW5ZsCeP74130_assertion description "[In alpha-thalassemia, alpha/beta-globin mRNA ratio correlated with the number of functional alpha-globin genes present, whereas in beta-thalassemia, the ratio provided a good indicator of disease severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150305.RArkC6LNsy6qjDvYJQZs5OyjuX1PlpXXiOBjW5ZsCeP74130_provenance.
• NP150313.RAh7Hz_kEoVMdA2a8WiFn0odB_Yx30H08MFtF9V-ieYC0130_assertion description "[Transgenic overexpression of hSTC1 results in severe post-natal dwarfism (30-50%) indepedent of GH or IGF-I and a reduction female reproductive competence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150313.RAh7Hz_kEoVMdA2a8WiFn0odB_Yx30H08MFtF9V-ieYC0130_provenance.
• NP150323.RAmu6vphGt_4OWRzYBs5VRWpDyu3ybHzkdb9hXNe2ROtw130_assertion description "[pathogenetic role for HMGB-1 in synovitis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150323.RAmu6vphGt_4OWRzYBs5VRWpDyu3ybHzkdb9hXNe2ROtw130_provenance.
• NP150324.RAlMC942He479d1R4dagX9nA9qcHQdhDX44WkdSaCqg_g130_assertion description "[Lyme arthritis with persistent synovitis found in association with HLA-DRB1*1104 in children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150324.RAlMC942He479d1R4dagX9nA9qcHQdhDX44WkdSaCqg_g130_provenance.
• NP150326.RAklLejIM0bH7LEF1E6UAgxGf5NI5opaLwm0rkvAYzQJI130_assertion description "[Trypsin degrades COL2A1 and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150326.RAklLejIM0bH7LEF1E6UAgxGf5NI5opaLwm0rkvAYzQJI130_provenance.
• NP150327.RAh5ETerBgoE4-qTfbruEWyP5eCTpnWSjoYi0WGGPzPGM130_assertion description "[associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150327.RAh5ETerBgoE4-qTfbruEWyP5eCTpnWSjoYi0WGGPzPGM130_provenance.
• NP150329.RAvmy6fT2dclIFSwLJoBeHVUye-7JXy3vJQi5TyCE8U4Y130_assertion description "[FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150329.RAvmy6fT2dclIFSwLJoBeHVUye-7JXy3vJQi5TyCE8U4Y130_provenance.
• NP150331.RAuFgx8RoxYk8so-v4Yxie4mx1vbQLM8nrGPy8AjV8Y1w130_assertion description "[DUX4-mediated cell death contributes to the pathogenic pathway in facioscapulohumeral muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150331.RAuFgx8RoxYk8so-v4Yxie4mx1vbQLM8nrGPy8AjV8Y1w130_provenance.
• NP150334.RArrCbar5rYpTzQ3VkIQq4jPGBspATqvMi8Vhd3yO763c130_assertion description "[Increased ANT1 expression and mitochondrial dysfunction may thus be initial events in facioscapulohumeral muscular dystrophy pathogenesis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150334.RArrCbar5rYpTzQ3VkIQq4jPGBspATqvMi8Vhd3yO763c130_provenance.
• NP150335.RAmnVBkbzdBTQ1J-8_owkl-YTggOE4f9h3yVWK9yhC9d8130_assertion description "[up-regulation of mu-crystallin may play a specific and important role in pathogenesis of facioscapulohumeral muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150335.RAmnVBkbzdBTQ1J-8_owkl-YTggOE4f9h3yVWK9yhC9d8130_provenance.
• NP150337.RAnYxnInwY0FnjcoD-J9NBdi6oSekUmmmV2_qI6_TQUow130_assertion description "[Patients with Mitral valve prolapse syndrome have a higher frequency of ACE II genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150337.RAnYxnInwY0FnjcoD-J9NBdi6oSekUmmmV2_qI6_TQUow130_provenance.
• NP150342.RAr2rVndjlzi7b54ynR89AehSEHnKR5GLPgTMXSdd_V8Q130_assertion description "[Dimished, but correctly localised expression of BP180 in epidermolysis bullosa; COL15 mutated BP180 is still partly functional.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150342.RAr2rVndjlzi7b54ynR89AehSEHnKR5GLPgTMXSdd_V8Q130_provenance.
• NP150346.RAlex9jnBuq7XR0k0wMebIDIznQpWlLK9nqsCBsbO1pGU130_assertion description "[study presents a missense mutation in exon 1 of K14, R125C, identified in the affected individuals of a Chinese family with epidermolysis bullosa simplex-Dowling-Meara (EBS-DM) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150346.RAlex9jnBuq7XR0k0wMebIDIznQpWlLK9nqsCBsbO1pGU130_provenance.
• NP150348.RApyQEUd0WviqTzWHw8LLPiiQkADLQL6j3tSxPoYmiV58130_assertion description "[dramatic phenotype, which we named " lethal acantholytic epidermolysis bullosa, " underscores the paramount role of desmoplakin in epidermal integrity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150348.RApyQEUd0WviqTzWHw8LLPiiQkADLQL6j3tSxPoYmiV58130_provenance.
• NP150350.RAgFCdCMcc0UhsrWmydgGMakJPDuDK7qVtI9ECHAegx-0130_assertion description "[Epidermolysis bullosa pruriginosa due to a glycine substitution missense mutation in the COL7A1-gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150350.RAgFCdCMcc0UhsrWmydgGMakJPDuDK7qVtI9ECHAegx-0130_provenance.
• NP150356.RApk3-wOCRtIrA0XhbjiTv9aIVBGDklcveSI_7rPj1pZo130_assertion description "[many cases result from de novo mutations in KRT5 and KRT14 genes in epidermolysis bullosa simplex ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150356.RApk3-wOCRtIrA0XhbjiTv9aIVBGDklcveSI_7rPj1pZo130_provenance.
• NP150359.RAjLzBi8rA1Gxk2S0M-6vxlO01KJfqRRPSPsNqg4w4Lis130_assertion description "[analysis of keratin 5 and keratin 14 mutations in epidermolysis bullosa simplex in Scottish patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150359.RAjLzBi8rA1Gxk2S0M-6vxlO01KJfqRRPSPsNqg4w4Lis130_provenance.
• NP150362.RAmpg-nTaxGRMZbMgzNnMj9eLfyyzEIZg2KKVK9kMvj3s130_assertion description "[investigated novel KRT14 missense mutations in epidermolysis bullosa simplex in a cellular expression system in order to analyse their effects on the keratin cytoskeleton ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150362.RAmpg-nTaxGRMZbMgzNnMj9eLfyyzEIZg2KKVK9kMvj3s130_provenance.
• NP150367.RAhUpruztGPRqi9p1tq9uvXPwZOPE7Ellmi2NrNdIbL8Q130_assertion description "[examination of mutation the LNDR to LNDS motif in vimentin to examine role in epidermolysis bullosa simplex ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150367.RAhUpruztGPRqi9p1tq9uvXPwZOPE7Ellmi2NrNdIbL8Q130_provenance.
• NP150370.RAllH6oiuWWv9hlDY9YVoqi_lUMnEyQiymk06nD8Rg0Kw130_assertion description "[A wide range of deletions in 3p, including at the VHL gene, may play a role in the development of tongue cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150370.RAllH6oiuWWv9hlDY9YVoqi_lUMnEyQiymk06nD8Rg0Kw130_provenance.
• NP150372.RApScnTgLhlm-iCKVG2-E96trVjvg0eMvHr7XlNJZwtl4130_assertion description "[BAG-1 negativity in association with p53 and c-erbB2 positivity identified a subgroup of tongue cancer patients with an aggressive phenotype ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150372.RApScnTgLhlm-iCKVG2-E96trVjvg0eMvHr7XlNJZwtl4130_provenance.
• NP150375.RAkS-jYiRH-VE2TQDrv6Q2JjNuJx-jGs7s3Q8_aG3kRKM130_assertion description "[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150375.RAkS-jYiRH-VE2TQDrv6Q2JjNuJx-jGs7s3Q8_aG3kRKM130_provenance.
• NP150384.RAo3JUXpNS5euItlLywIyCONEw2o5_Vh95Vxs5O5-S5Qw130_assertion description "[A new loss-of-function PPARG mutation, D424N, located in the ligand-binding domain of the protein, leads to familial partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150384.RAo3JUXpNS5euItlLywIyCONEw2o5_Vh95Vxs5O5-S5Qw130_provenance.
• NP150390.RAjHPDg3exeB9wp-F_9qTEAHWUd6UKeqhf9KWoiDt2MuQ130_assertion description "[genes known to be responsible for Emery-Dreifuss muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150390.RAjHPDg3exeB9wp-F_9qTEAHWUd6UKeqhf9KWoiDt2MuQ130_provenance.
• NP150392.RAhmyl8p-DfPoqgH4P96oVi_qJ3nni6059fPlXXSEBVAw130_assertion description "[These results suggest that Btf localization is regulated by apoptotic signals, and that loss of emerin binding to Btf may be relevant to muscle wasting in Emery-Dreifuss muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150392.RAhmyl8p-DfPoqgH4P96oVi_qJ3nni6059fPlXXSEBVAw130_provenance.
• NP150397.RAqob1g5oMeZKsVhbeChLMd_QInjkkGOcGHkyyFChDoCA130_assertion description "[The influence of expression of the Emery-Dreifuss muscular dystrophy R453W mutation and of the Dunnigan-type partial lipodystrophy R482W mutation of lamin A on transcription and epigenetic regulation of the myogenin gene and on chromatin organization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150397.RAqob1g5oMeZKsVhbeChLMd_QInjkkGOcGHkyyFChDoCA130_provenance.
• NP150399.RAqKgP6lMednNFpqv6wqPityU-tDXRGYnA2kyMNTZIC1Q130_assertion description "[YT521-B has a role in a gene expression in the pathogenesis of Emery-Dreifuss muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150399.RAqKgP6lMednNFpqv6wqPityU-tDXRGYnA2kyMNTZIC1Q130_provenance.
• NP150407.RAun_jxr-EQw23lsGyiamtj4fOuJ4ToNib9HC6cED2RvA130_assertion description "[generation in vitro of 15 missense mutations that have been described in patients with Tangier disease and familial hypoalphalipoproteinemia/ABCA1) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150407.RAun_jxr-EQw23lsGyiamtj4fOuJ4ToNib9HC6cED2RvA130_provenance.
• NP150411.RAkKgZHc4lb1JudxM6Ci2oHt1mq0b8Bw1spepmehvXJFY130_assertion description "[Pathophysiology of proximal renal tubular acidosis (pRTA0 caused by R881C mutation is likely due to deficit of NBCe1-A at proximal tubule basolateral membrane, rather than defect in transport activity of individual molecules.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150411.RAkKgZHc4lb1JudxM6Ci2oHt1mq0b8Bw1spepmehvXJFY130_provenance.
• NP150414.RAmC2QjMaDGG5S3QHeNVeyOyCDyjIbyR5LI-sA5463zLI130_assertion description "[Patients with familial autosomal dominant distal renal tubular acidosis associated with the SLC4A1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150414.RAmC2QjMaDGG5S3QHeNVeyOyCDyjIbyR5LI-sA5463zLI130_provenance.
• NP150418.RAhfQvljAtgGSbyjSfMy1skm5HwWMlB9OjOb24TXHBqq0130_assertion description "[G701D mutation of anion exchanger 1 gene causes autosomal recessive distal renal tubular acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150418.RAhfQvljAtgGSbyjSfMy1skm5HwWMlB9OjOb24TXHBqq0130_provenance.
• NP150420.RAphyf5f9o2WDhFK-9afOwFysWEGBVSQCh-Kwas4833eo130_assertion description "[R589H distal renal tubular acidosis (dRTA) mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1 [kAE1]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150420.RAphyf5f9o2WDhFK-9afOwFysWEGBVSQCh-Kwas4833eo130_provenance.
• NP150421.RAgFxoweyX_5ovQyhLaP7paE-5IVE_LvBGQBuk3tOHRGM130_assertion description "[Anion exchanger 1 mutations are associated with distal renal tubular acidosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150421.RAgFxoweyX_5ovQyhLaP7paE-5IVE_LvBGQBuk3tOHRGM130_provenance.
• NP150423.RAugNNPrmK30y7JKWAUtNZPK6ySFUge8OBVOA_nwHfZ60130_assertion description "[Evidence protein 4.2 interacts with the Rh membrane complex member CD47 obtained from red cells of patients with hereditary spherocytosis associated with complete protein 4.2 deficiency ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150423.RAugNNPrmK30y7JKWAUtNZPK6ySFUge8OBVOA_nwHfZ60130_provenance.
• NP150424.RAvdv1Y2pnxvoD1kHx4UVN3JvxO9RPTJXstpmWpiWWzEM130_assertion description "[Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150424.RAvdv1Y2pnxvoD1kHx4UVN3JvxO9RPTJXstpmWpiWWzEM130_provenance.
• NP150428.RAk40UCifxyT6KrFUWC63155174C7SfBA-PFXVUSGSl9o130_assertion description "[Evidence protein 4.2 interacts with the Rh membrane complex member CD47 obtained from red cells of patients with hereditary spherocytosis associated with complete protein 4.2 deficiency ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150428.RAk40UCifxyT6KrFUWC63155174C7SfBA-PFXVUSGSl9o130_provenance.
• NP150438.RAmSxXdRfSyFoSPfHH9uDwKfSUx7GcMrgYZacKvtQgTdY130_assertion description "[Failure to thrive, feeding difficulties, epilepsy, psychomotor developmental delay and hypotonia-the presentations in children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150438.RAmSxXdRfSyFoSPfHH9uDwKfSUx7GcMrgYZacKvtQgTdY130_provenance.
• NP150442.RAo5REG3JmmAAybzg73NjsX-S2ZBakUmjonW7KYO-3NMA130_assertion description "[Accuracy of N-terminal pro-brain natriuretic peptide in the identification of left ventricular dysfunction in high-risk asymptomatic patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150442.RAo5REG3JmmAAybzg73NjsX-S2ZBakUmjonW7KYO-3NMA130_provenance.
• NP150449.RAt02f_mNvLdTPobbfUcv-pGO1LBQbeN5jWj88UvWoAeY130_assertion description "[Circulating CD34+ cell number was found to significantly correlate with plasma BNP level, a marker of left ventricular dysfunction ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150449.RAt02f_mNvLdTPobbfUcv-pGO1LBQbeN5jWj88UvWoAeY130_provenance.
• NP150450.RAqorhj1upOxAH-yfQ1APw2PQkF5iVZxXRBRb8ExagUnU130_assertion description "[a marker for left ventricular dysfunction in diabetic patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150450.RAqorhj1upOxAH-yfQ1APw2PQkF5iVZxXRBRb8ExagUnU130_provenance.
• NP150454.RAhDEAOywI4dhnwrP9aAtu2bVL3rWNDTM10uNvq8e8J7g130_assertion description "[In this test set, cyclooxygenase 2 and Caspase 3 seem to be immunohistochemical markers with prognostic significance for vulva cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150454.RAhDEAOywI4dhnwrP9aAtu2bVL3rWNDTM10uNvq8e8J7g130_provenance.
• NP150456.RAlKTB5-ITfwtNCjH4Wsr6EjbeWBHmRvwzaWh-Ln5H4BQ130_assertion description "[In this test set, cyclooxygenase 2 and Caspase 3 seem to be immunohistochemical markers with prognostic significance for vulva cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150456.RAlKTB5-ITfwtNCjH4Wsr6EjbeWBHmRvwzaWh-Ln5H4BQ130_provenance.
• NP150457.RAtEjFGuy7xwQklz4gQdkrnJTQ2LJHXQH1uohi_RkYD7c130_assertion description "[Vulvar cancer in elderly patients may be associated with inflammation, and thus with increased COX-2 expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150457.RAtEjFGuy7xwQklz4gQdkrnJTQ2LJHXQH1uohi_RkYD7c130_provenance.
• NP150463.RAr7Or4Wn3_fGzX_U-QCmEpzT0iIgQk6d6Zd2dZGj-qFQ130_assertion description "[Structural characterization of mutant alpha-galactosidases causing Fabry disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150463.RAr7Or4Wn3_fGzX_U-QCmEpzT0iIgQk6d6Zd2dZGj-qFQ130_provenance.
• NP150466.RAmpG7NxcEqvcqWZpoidvYltP7Ix9XlXbmI-pVEVfSre8130_assertion description "[Studies further define the molecular heterogeneity of the alpha-Gal A mutations in classical Fabry disease, permit precise heterozygote detection and prenatal diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150466.RAmpG7NxcEqvcqWZpoidvYltP7Ix9XlXbmI-pVEVfSre8130_provenance.
• NP150467.RAptdoCjccQhfjg645bmoBPkE_L9vOyKJbSD8dbzHR0dI130_assertion description "[analysis of mutations in the GLA gene in 121 patients with Fabry disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150467.RAptdoCjccQhfjg645bmoBPkE_L9vOyKJbSD8dbzHR0dI130_provenance.
• NP150468.RAu1MoZrN0-j1mIXu1oy_d6wLeZP2_dNEx77BKRGAiXs0130_assertion description "[A previously unreported deletion mutation (c.1072 _ 1074delGAG) in exon 7 of alpha-Gal A gene on Xq22 in a Taiwanese family with Fabry disease is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150468.RAu1MoZrN0-j1mIXu1oy_d6wLeZP2_dNEx77BKRGAiXs0130_provenance.
• NP150469.RAgU_vaw_8S_-c0KX6atpt36TErnqVRtcD0hTukuhSn3Y130_assertion description "[Fifteen novel GLA mutations were identified in 22 Spanish Fabry disease patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150469.RAgU_vaw_8S_-c0KX6atpt36TErnqVRtcD0hTukuhSn3Y130_provenance.
• NP150475.RAtiZdOoFU1NyYV66UvFUzGYwPY_IixavSfLe3XjYXsxc130_assertion description "[Gb3 induces oxidative stress and up-regulates the expression of ICAM1, VACAM1 and selectin E in Fabry disease vascular endothelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150475.RAtiZdOoFU1NyYV66UvFUzGYwPY_IixavSfLe3XjYXsxc130_provenance.
• NP150478.RAuqBwGiPmZXUMKvSFVgW-l7FY9NxidcoJuzJqhOabMCQ130_assertion description "[C-reactive protein (CRP) serum levels are associated with increased risk and worse outcome of ischaemic events, a serious prognostic sign in Fabry disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150478.RAuqBwGiPmZXUMKvSFVgW-l7FY9NxidcoJuzJqhOabMCQ130_provenance.
• NP150479.RAoqEHIL9RuWqv6ohSe_1fCf6YxsgNmzqz2JRxr8WWfVE130_assertion description "[in addition to alpha-gal A gene mutations, eNOS genetic variations are implicated in Fabry's disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150479.RAoqEHIL9RuWqv6ohSe_1fCf6YxsgNmzqz2JRxr8WWfVE130_provenance.
• NP150487.RAsy-tN-_PAXUMZ0NFey3r-JvS0vL7yRCGnst_eHs3IO8130_assertion description "[Results of ischemia-modified albumin and CRP were correlated with final diagnoses of nonischemic chest pain (NICP) and acute coronary syndrome (ACS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150487.RAsy-tN-_PAXUMZ0NFey3r-JvS0vL7yRCGnst_eHs3IO8130_provenance.
• NP150492.RAjM8tOHGij2eUCD0eUl_d2GwMwe67Cf9sL1UKY37juPc130_assertion description "[in haemodynamically stable patients with acute pulmonary embolism, cardiac troponin I was not an independent predictor of 30-day all-cause mortality, although it did predict fatal pulmonary embolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150492.RAjM8tOHGij2eUCD0eUl_d2GwMwe67Cf9sL1UKY37juPc130_provenance.
• NP150494.RAlyC8PB63osIWn8JUoBfbfOgO_C9b6SpyysOic-L36As130_assertion description "[investigate the hypothesisis that TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms might influence the formation and fate of emboli and accordingly the risk of pulmonary embolism in a case control study ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150494.RAlyC8PB63osIWn8JUoBfbfOgO_C9b6SpyysOic-L36As130_provenance.
• NP150505.RAl4ZB7rdy46uCtVvIvOa6CVJgcBMaM9J9n9_opYUIAv4130_assertion description "[CD40/CD40L signaling contributes to inflammatory and prothrombogenic responses and brain infarction induced by middle cerebral artery occlusion and reperfusion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150505.RAl4ZB7rdy46uCtVvIvOa6CVJgcBMaM9J9n9_opYUIAv4130_provenance.
• NP150506.RAoaOcmWkmDy7tydbvwrxOiGS1xk5rqapmCldVi5TwmhQ130_assertion description "[Ischaemic stroke patients with heterozygous factor V Leiden present with multiple brain infarctions and widespread atherothrombotic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150506.RAoaOcmWkmDy7tydbvwrxOiGS1xk5rqapmCldVi5TwmhQ130_provenance.
• NP150511.RAqV5bY5YlIMbi5rU0q-wP_ayg1eSJxdoY86NXyM7iIms130_assertion description "[Complement protein C1q and anti-hexon antibodies together can mediate efficient adenovirus infection in coxsackie and adenovirus receptor-negative cell types.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150511.RAqV5bY5YlIMbi5rU0q-wP_ayg1eSJxdoY86NXyM7iIms130_provenance.
• NP150513.RAukbFTF5kVmkC--7NuCnGjkrrkqB_pIx8zOJXXsuFSuM130_assertion description "[Taken together, these results define a role for E1B-AP5 in ATR signaling pathways activated during adenovirus infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150513.RAukbFTF5kVmkC--7NuCnGjkrrkqB_pIx8zOJXXsuFSuM130_provenance.
• NP150515.RAijofUZ356_wDJQPS6P1G0XQwFA08Uy3mh8oqjS3to4I130_assertion description "[Factor XIII may have a role in disseminated intravascular coagulation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150515.RAijofUZ356_wDJQPS6P1G0XQwFA08Uy3mh8oqjS3to4I130_provenance.
• NP150519.RAvIJWMmIyUGDEFFsLz67WJnVdkBisw_poB3nLjttTSPE130_assertion description "[Beta-2-glycoprotein I might act to prevent blood clotting on the placental surfaces and also prevents disseminated intravascular coagulation in the microcirculation and maternal plasma just after delivery ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150519.RAvIJWMmIyUGDEFFsLz67WJnVdkBisw_poB3nLjttTSPE130_provenance.
• NP150526.RAgGWu4PInV2iV3AZy6Le03zjGu4NsupcZveKvN3HkNgs130_assertion description "[DNA testing for transthyretin is the most reliable test for transthyretin familial amyloid polyneuropathy in patient of Russian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150526.RAgGWu4PInV2iV3AZy6Le03zjGu4NsupcZveKvN3HkNgs130_provenance.
• NP150533.RApVTyWrNsvhsZJIClazhUZ0mten8kd66LBefnY2W8-_s130_assertion description "[Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy.point mutation responsible for substitution of valine for isoleucine at position 107 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150533.RApVTyWrNsvhsZJIClazhUZ0mten8kd66LBefnY2W8-_s130_provenance.
• NP150534.RAqL1eHZ_oN4jOiprzmr5mpBX6ILIxs-G7ettlPtu-jiU130_assertion description "[The correlation between destabilization of the transthyretin core strands and the tendency for amyloid formation (familial amyloid polyneuropathy variants) supports the view that these strands are involved in amyloidogenicity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150534.RAqL1eHZ_oN4jOiprzmr5mpBX6ILIxs-G7ettlPtu-jiU130_provenance.
• NP150538.RAi026RgEQ2wSR5lWuYX5RGEwYSyrlX1eGmbL6pLhrxug130_assertion description "[The novel mutation causes a late-onset demyelinating polyneuropathy, putatively resulting from aberrant intracellular trafficking of the mutant P (0) protein, which compromises the adhesiveness of the cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150538.RAi026RgEQ2wSR5lWuYX5RGEwYSyrlX1eGmbL6pLhrxug130_provenance.
• NP150541.RAitbAxS5Rd-S0eohBLyyPl0q7mzKJNVIHEIKNYoTYMYw130_assertion description "[up-regulation of MMP-2 in stromal cells of chronic inflammatory demyelinating polyneuropathy and in vasculitic neuropathies ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150541.RAitbAxS5Rd-S0eohBLyyPl0q7mzKJNVIHEIKNYoTYMYw130_provenance.
• NP150545.RAs7POtrLTAbb8wP8dzuQ21ccgn3_dn7TSLpHNORneeKQ130_assertion description "[A Swedish family is reported with rare Phe33Leu transthyretin mutation; the phenotype is characterized by familial amyloidotic polyneuropathy and carpal tunnel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150545.RAs7POtrLTAbb8wP8dzuQ21ccgn3_dn7TSLpHNORneeKQ130_provenance.
• NP150548.RAuNW-QD2fmljsYWNSL-kjlX7nUe_rWtWWzZvx24oRDEY130_assertion description "[Twenty of 46 patients with IgM amyloidosis (7 with and 13 without polyneuropathy) had elevation of anti-MAG or SGPG by enzyme-linked immunosorbent assay ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150548.RAuNW-QD2fmljsYWNSL-kjlX7nUe_rWtWWzZvx24oRDEY130_provenance.
• NP150549.RAu6qz5M8GNRHEXgfQzr9hme6X9RcI5QG7CW78n7PRcfU130_assertion description "[In our patient, propriospinal myoclonus was associated with anti-MAG polyneuropathy, but the causal relationship remains unclear.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150549.RAu6qz5M8GNRHEXgfQzr9hme6X9RcI5QG7CW78n7PRcfU130_provenance.
• NP150551.RAuCDkABM4KnKM4eoLYjtxVO8szwhTqFlOAHDj4dCT4Ns130_assertion description "[2 new heterozygous missense transitions (C2794T, G3151C) were found in the POLG gene in a family with an autosomal recessive syndrome: progressive external ophthalmoplegia, polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150551.RAuCDkABM4KnKM4eoLYjtxVO8szwhTqFlOAHDj4dCT4Ns130_provenance.
• NP150558.RAl_gwVcfANrfTMtDHf7AWNR5OZjaymfguw7y_dJznDrs130_assertion description "[Genetic variation in APCS is associated with amyloid polyneuropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150558.RAl_gwVcfANrfTMtDHf7AWNR5OZjaymfguw7y_dJznDrs130_provenance.
• NP150560.RApPcty7BIdCEVIiP579GEEoQQHPPTHNHXkyTYKcnmP4U130_assertion description "[Increased levels of cellular adhesion molecules in patients with coronary artery ectasia may be an indicator of endothelial activation and inflammation and are likely to be in the causal pathway leading to coronary artery ectasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150560.RApPcty7BIdCEVIiP579GEEoQQHPPTHNHXkyTYKcnmP4U130_provenance.
• NP150566.RAl1hT9YoN7LDwIjY_T0JUXi5YdsfwQVb25PWMIejA2dM130_assertion description "[polymorphisms may be associated with pathogenesis and increase the risk of coronary artery ectasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150566.RAl1hT9YoN7LDwIjY_T0JUXi5YdsfwQVb25PWMIejA2dM130_provenance.
• NP150574.RAqn5Kwes12yY7-csxzzJvV9N0EU4sW9cBwmBKMswGXqU130_assertion description "[CYP1A2 can support uroporphyrin accumulation in hepatoma cells and thus may play a role in human porphyria cutanea tarda.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150574.RAqn5Kwes12yY7-csxzzJvV9N0EU4sW9cBwmBKMswGXqU130_provenance.
• NP150578.RAh4EgszbZW436Oaj_Q33aAG_Zeq0RS8oK4dWzhpmXnWc130_assertion description "[Analysis of TFRC1 genotypes and HFE gene mutations in French porphyria cutanea tarda (sPCT) patients revealed that, independently from HFE gene mutations, an association was found between the IVS4+198 T allele in the TFRC1 gene and sPCT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150578.RAh4EgszbZW436Oaj_Q33aAG_Zeq0RS8oK4dWzhpmXnWc130_provenance.
• NP150584.RAh2zTlnjf_kbdfpidHSGbkZCVxhtRV-ZVSc_1dBGVc4U130_assertion description "[association between ACE gene insetion-deletion polymorphism and inflammatory back pain (spondylarthropathies) secondary to ankylosing spondylitis, psoriatic arthritis, inflammatory bowel disease and undifferentiated spondylarthropathies ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150584.RAh2zTlnjf_kbdfpidHSGbkZCVxhtRV-ZVSc_1dBGVc4U130_provenance.
• NP150587.RAunjRj2Nzk0kpkYjJPQH5iXmspT6Jeaj7PtdMg2tAY7M130_assertion description "[expression of PD-1 defines a reversible defect of CMV-specific CD4 T cells that is associated with viremia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150587.RAunjRj2Nzk0kpkYjJPQH5iXmspT6Jeaj7PtdMg2tAY7M130_provenance.
• NP150593.RAieELlT8bm-8zSIfawohorkhFitazWp0Bj67oR5Xa0L4130_assertion description "[A 32 base pair deletion associated with increased hepatitis C viremia, results in reduction of Interferon-g virus-specific T cell response in haemophilic patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150593.RAieELlT8bm-8zSIfawohorkhFitazWp0Bj67oR5Xa0L4130_provenance.
• NP150596.RAvGhk1kDrTd5WDdxUDwH70ofEBn5mNSyET5v9pMHSeBE130_assertion description "[4-1BB/4-1BBL and Fas/FasL pathways play important roles in vascular injury in Takayasu's arteritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150596.RAvGhk1kDrTd5WDdxUDwH70ofEBn5mNSyET5v9pMHSeBE130_provenance.
• NP150602.RAiikrYxFaIRf3vlwvI_Za8R-Zkd_pr7A7_eHLr2Th_To130_assertion description "[The present results indicate that MMP-2 can be helpful in diagnosing Takayasu arteritis [TA]and that MMP-3 and MMP-9 can be used as activity markers for TA ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150602.RAiikrYxFaIRf3vlwvI_Za8R-Zkd_pr7A7_eHLr2Th_To130_provenance.
• NP150606.RAk4S2GV3SGtsjegKbTaTtwWoiQrOZd2anG0f6FG8Nq78130_assertion description "[Study suggests a difference in the distribution of HLA-B alleles in patients with takayasu arteritis and tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150606.RAk4S2GV3SGtsjegKbTaTtwWoiQrOZd2anG0f6FG8Nq78130_provenance.
• NP150607.RAiMkgM56KhiI85kQsA5QoEt77sI34njRJc1MSUHK9owE130_assertion description "[Female with Takayasu arteritis, primary antiphospholipid antibody syndrome and methylene tetrahydrofolate reductase C 677 T and A 1298 C polymorphism, who was treated with carotid stenting and anticoagulants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150607.RAiMkgM56KhiI85kQsA5QoEt77sI34njRJc1MSUHK9owE130_provenance.
• NP150608.RAkJcMUAuNcw68EfX8liMbt7vGnNTE2DXG0xUeSnUh-k4130_assertion description "[The present results indicate that MMP-2 can be helpful in diagnosing Takayasu arteritis [TA]and that MMP-3 and MMP-9 can be used as activity markers for TA ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150608.RAkJcMUAuNcw68EfX8liMbt7vGnNTE2DXG0xUeSnUh-k4130_provenance.
• NP150612.RAufBPHvf70OQoD777i918wZUgjdhTn9ffg90yNIZe0xc130_assertion description "[Loss of MMP-2, MMP-3 and FN in lichen planus may be associated with the destruction of the epidermal basal layer and these MMPs may be involved in the pathogenesis of interface dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150612.RAufBPHvf70OQoD777i918wZUgjdhTn9ffg90yNIZe0xc130_provenance.
• NP150625.RAsIzxgrUdzaPAR-MFXok2RdsqaDY6fZaqFqIneFbc4eU130_assertion description "[In late-onset congenital adrenal hyperplasia, the most common mutation (Val281-Leu, V281L) was found in 10 patients (7 heterozygous/3 homozygous)/frequency of V281L mutation was found as 32.5% in 20 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150625.RAsIzxgrUdzaPAR-MFXok2RdsqaDY6fZaqFqIneFbc4eU130_provenance.
• NP150629.RAtCAyJLywSqU_KCHVyiv_DCmojHd-E0wtfu07ZRypKy8130_assertion description "[Three putative novel mutations in congenital adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150629.RAtCAyJLywSqU_KCHVyiv_DCmojHd-E0wtfu07ZRypKy8130_provenance.
• NP150637.RAoOx98wyfnGAok1UausQxGVe098u-08AYhP5kaaSrI0E130_assertion description "[Congenital adrenal hyperplasia is caused by genetic mutations of CYP11B1, and types of the mutations are varied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150637.RAoOx98wyfnGAok1UausQxGVe098u-08AYhP5kaaSrI0E130_provenance.
• NP150642.RApiZ4z99ldZBFCgJbvkKBQF6tMbLN2tBNg_flHCQreiY130_assertion description "[Molecular pathogenesis of this form of congenital adrenal hyperplasia is caused by mutations in the gene encoding P450 oxidoreductase ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150642.RApiZ4z99ldZBFCgJbvkKBQF6tMbLN2tBNg_flHCQreiY130_provenance.
• NP150643.RAv_n1Zr-CIrJ2NXy4iY_yyvg4W5Tftz0nscGKnr_MWW8130_assertion description "[altered leptin axis with normal serum leptin concentrations but decreased leptin receptor serum levels may contribute to the increased risk of overweight and obesity in congenital adrenal hyperplasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150643.RAv_n1Zr-CIrJ2NXy4iY_yyvg4W5Tftz0nscGKnr_MWW8130_provenance.
• NP150649.RAgCZrvD61O4eYwNnWAgunepK8bvATU2QErMT3kktoa84130_assertion description "[Case Report: HLA-DQ alpha heterodimers and HLA-DR alleles in tubulointerstitial nephritis and uveitis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150649.RAgCZrvD61O4eYwNnWAgunepK8bvATU2QErMT3kktoa84130_provenance.
• NP150650.RAl8MYHVwyN_0t2bmWkBn167do5zgEAxTFHpgSDwtl8T4130_assertion description "[Case Report: HLA-DQ alpha heterodimers and HLA-DR alleles in tubulointerstitial nephritis and uveitis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150650.RAl8MYHVwyN_0t2bmWkBn167do5zgEAxTFHpgSDwtl8T4130_provenance.
• NP150654.RAn-UO6_HJOQbLSGhWoQQWI_66q8UuPtOJPT78o-uv-7M130_assertion description "[Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by absence of CD55 from the surface of affected granulocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150654.RAn-UO6_HJOQbLSGhWoQQWI_66q8UuPtOJPT78o-uv-7M130_provenance.
• NP150656.RAtsROBITd8zCGVZNK1HiFiQZbo7OsL0U5jFLrG-Lk1D8130_assertion description "[The high frequency of HLA-DRB1*1501-DQA1*0102-DQB1*0602 haplotype in paroxysmal nocturnal hemoglobinuria (PNH), including AA-PNH syndrome, and aplastic anemia (AA) patients.(DQB1) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150656.RAtsROBITd8zCGVZNK1HiFiQZbo7OsL0U5jFLrG-Lk1D8130_provenance.
• NP150667.RArmvpaMc8IKosmHCWftgL-VvkI000bzDwRf3h6Vh_rzc130_assertion description "[specific role of exon 4 encoded sequence of UMOD in the generation of the medullary cystic kidney disease type 2 renal phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150667.RArmvpaMc8IKosmHCWftgL-VvkI000bzDwRf3h6Vh_rzc130_provenance.
• NP150675.RAjahfnl71T2LncYcbPiRdacUQxwgQhnm4PdxXXFHdybM130_assertion description "[The study suggests an association between the ApoE epsilon4 allele and the late-onset depression without cerebrovascular disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150675.RAjahfnl71T2LncYcbPiRdacUQxwgQhnm4PdxXXFHdybM130_provenance.
• NP150676.RAkLaY2ENUtvqNrgbk4CarSX92o57CkYR8-ua4f4FfBhI130_assertion description "[Uses Bayesian quantitative trait nucleotide method to identify 4 to 7 functional variants that completely account for polymorphisms on the F7 gene responsible for blood coagulation disorders of the clotting factor VII phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150676.RAkLaY2ENUtvqNrgbk4CarSX92o57CkYR8-ua4f4FfBhI130_provenance.
• NP150686.RAvTtVz-DLDIsDkUkHCWN1ryUk5gNT8oLNGn9gbUL277A130_assertion description "[colocalization of ICAM-1 and B7.1 molecules was demonstrated in Hashomoto's thyroiditis whereas no B7.1 expression was observed in Graves'disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150686.RAvTtVz-DLDIsDkUkHCWN1ryUk5gNT8oLNGn9gbUL277A130_provenance.
• NP150693.RAusjeoPp8PvSX3vpJGn9fY0np3MyGXGVCv2jrM-3aSx0130_assertion description "[mRNA for the chemokine PARC is expressed in the lower respiratory tract in both healthy subjects and patients with pulmonary sarcoidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150693.RAusjeoPp8PvSX3vpJGn9fY0np3MyGXGVCv2jrM-3aSx0130_provenance.
• NP150695.RArHjNDY41z8pxl_-U744YXH1RQNaXdvic6gSViFnkjMU130_assertion description "[An investigation to evaluate the diagnostic value of relative number of CD103 expressing CD4 (+) T-lymphocytes in the BAL fluid of patients with a variety of interstitial lung diseases, including pulmonary sarcoidosis, is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150695.RArHjNDY41z8pxl_-U744YXH1RQNaXdvic6gSViFnkjMU130_provenance.
• NP150703.RAgjKqfilME1lK4SUpSGKSVm4pGddZI21g2C2Lxl6PfXM130_assertion description "[Hemopexin in minimal change nephropathy relapse subjects may exist in an altered isoform, showing enhanced protease activity as compared with subjects in remission, subjects with other forms of primary glomerulopathy, or healthy controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150703.RAgjKqfilME1lK4SUpSGKSVm4pGddZI21g2C2Lxl6PfXM130_provenance.
• NP150704.RAlg5zwcZ5TFLGQ6iZ98PxAlFSDicxBimgQEoX8vEOQkw130_assertion description "[Among persons with the WAGR syndrome, BDNF haploinsufficiency is associated with lower levels of serum BDNF and with childhood-onset obesity; thus, BDNF may be important for energy homeostasis in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150704.RAlg5zwcZ5TFLGQ6iZ98PxAlFSDicxBimgQEoX8vEOQkw130_provenance.

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