Nanopublications

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

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NP147853.RAs6pHbise3SEca6aJmux5OKMs7ijnd9mhXS_7giEgc3o130_assertion description "[27/30 (90%) of Atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDLPS) showed positive staining of either p16, MDM2, or both, whereas no staining was observed in all the deep-seated lipomas ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147853.RAs6pHbise3SEca6aJmux5OKMs7ijnd9mhXS_7giEgc3o130_provenance.
NP147861.RAkjjPhspneec2sCKQ5MCHoFXY9FATburbhy1IP7SgdOE130_assertion description "[All cases of pleomorphic liposarcoma (PLS) showed a varied distribution of extra signals with polyploidy and amplification in each histological area/CHOP fusion transcript was found in any case of PLS by nested RT-PCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147861.RAkjjPhspneec2sCKQ5MCHoFXY9FATburbhy1IP7SgdOE130_provenance.
NP147865.RAjyyTCfMjiJawm8hT4KCUZd4hxMbT21zxgrIennKaaX8130_assertion description "[Topo-II alpha is a useful marker for diagnosing liposarcoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147865.RAjyyTCfMjiJawm8hT4KCUZd4hxMbT21zxgrIennKaaX8130_provenance.
NP147866.RAnideI_IVZYa5mR5FWTTPlBkp_7TaKsZhg7IMW698Yhw130_assertion description "[the presence of PPAR-gamma staining can aid in the diagnosis of dedifferentiated liposarcoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147866.RAnideI_IVZYa5mR5FWTTPlBkp_7TaKsZhg7IMW698Yhw130_provenance.
NP147873.RAmuTk6drpLy5mwxgO7aXKO9VDiKMBS8yUrxTJ8ds2slc130_assertion description "[Keratin 9 is mutated in epidermolytic palmoplantar keratoderma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147873.RAmuTk6drpLy5mwxgO7aXKO9VDiKMBS8yUrxTJ8ds2slc130_provenance.
NP147879.RAvSSOgvssFw_hlbdK4QffLJoAGoK9h1SayA5bjAnhA2U130_assertion description "[novel splice site mutation in the DSG1 gene in palmoplantar keratoderma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147879.RAvSSOgvssFw_hlbdK4QffLJoAGoK9h1SayA5bjAnhA2U130_provenance.
NP147882.RAm4LcjFVo6Liq6itm3YjSo9k1kEPO8aO6PA3Q6mjB3rc130_assertion description "[results support a role for IL-33 in the pathogenesis of Japanese cedar pollinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147882.RAm4LcjFVo6Liq6itm3YjSo9k1kEPO8aO6PA3Q6mjB3rc130_provenance.
NP147883.RAv0jtx_C9vZs5gqU4jXHuDHUT_hl3PMsjQxVpT6jMmlc130_assertion description "[Seasonal allergic rhinitis subject showed significant elevation in EGFR expression, consistent with the observation of mucus hypersecretion in allergic rhinitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147883.RAv0jtx_C9vZs5gqU4jXHuDHUT_hl3PMsjQxVpT6jMmlc130_provenance.
NP147890.RAj7_eoO-UdJh_RjsQymPeCfQOniBdLohGg-L26xxowWg130_assertion description "[Soluble HLA-G serum level is significantly increased in allergic rhinitis patients with pollen allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147890.RAj7_eoO-UdJh_RjsQymPeCfQOniBdLohGg-L26xxowWg130_provenance.
NP147893.RAuczFRpC9mgZoHbkrdG8qnbHGeC8H7W8Butyfcr8g9Z8130_assertion description "[AIF translocation has a role in FK228-induced autophagy in malignant rhabdoid tumor cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147893.RAuczFRpC9mgZoHbkrdG8qnbHGeC8H7W8Butyfcr8g9Z8130_provenance.
NP147897.RAqoCu511KXpUy1Ju2BeiugNochLsqfl23cMGhSNTYAa4130_assertion description "[INI1 immunohistochemistry is a relatively simple, sensitive, and specific technique for distinguishing malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor from composite rhabdoid tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147897.RAqoCu511KXpUy1Ju2BeiugNochLsqfl23cMGhSNTYAa4130_provenance.
NP147903.RAr8KHaq2JMMoVca0QR67Hm01Y8KrXfWpWslj2kd2MYI8130_assertion description "[The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147903.RAr8KHaq2JMMoVca0QR67Hm01Y8KrXfWpWslj2kd2MYI8130_provenance.
NP147905.RAterbSNkl69Hlw4l0oy3GkyRqjovWAr_wIUBCfkKI5_0130_assertion description "[Analysis of alterations in the SMARCB1/INI1 gene may be a useful for distinguishing proximal-type epithelioid sarcoma from malignant rhabdoid tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147905.RAterbSNkl69Hlw4l0oy3GkyRqjovWAr_wIUBCfkKI5_0130_provenance.
NP147910.RAu0J1qr63AvBlSJBoKoaQskFthjOvnX6xsQvO521fn2E130_assertion description "[Atypical teratoid/rhabdoid tumor can be misdiagnosed as a variety of tumors, including ependymoma that potentially harbors LOH 22q/data indicate that cyclin D1 is a target of hSNF5/INI1in primary tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147910.RAu0J1qr63AvBlSJBoKoaQskFthjOvnX6xsQvO521fn2E130_provenance.
NP147920.RArpkTNHvHOH-MeoxmRZQcuf1Ahfr4t-chrDQNvn_8WfE130_assertion description "[Neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147920.RArpkTNHvHOH-MeoxmRZQcuf1Ahfr4t-chrDQNvn_8WfE130_provenance.
NP147927.RAv3svL8eHTW24DStnvSSOzxA_r9xMfCBZ310EfG-ls1E130_assertion description "[These results suggest that PGC-1alpha regulates multiple pathways in neurons and that HDACi's may be good candidates to target PGC-1alpha and GLUT4 in Huntington's Disease and other neurological disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147927.RAv3svL8eHTW24DStnvSSOzxA_r9xMfCBZ310EfG-ls1E130_provenance.
NP147929.RAnkFXoU8qd4iePrBVRkuP7VcLCje0MXcOz7tvjgI6qmg130_assertion description "[sema3A and sema3C have opposite roles in neoplasm invasiveness and adhesion ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147929.RAnkFXoU8qd4iePrBVRkuP7VcLCje0MXcOz7tvjgI6qmg130_provenance.
NP147937.RAgGByi3_LOXm30IZM3GbDV1HJXikfffRQvseoVcP7a3s130_assertion description "[YKL-40 may have role in neoplasm invasiveness; protein could stimulate fibroblast proliferation, promote angiogenesis, and protect cancer and/or stromal cells against apoptosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147937.RAgGByi3_LOXm30IZM3GbDV1HJXikfffRQvseoVcP7a3s130_provenance.
NP147939.RAkiO18x_mB5bRMSKyoN5Am9ZrNOWVjktk4QQfHNvThVY130_assertion description "[Upregulation of Ets 1 transcription factor ia assiciated with neoplasm invasiveness in Hereditary nonpolyposis colorectal cancers ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147939.RAkiO18x_mB5bRMSKyoN5Am9ZrNOWVjktk4QQfHNvThVY130_provenance.
NP147942.RAp2z4fZzfQIk8iNfmfytXVocby_DkG45GopYkrUvu8Ak130_assertion description "[findings indicate the Leu10Pro & C-509T polymorphisms may be involved in modulation of expression of TGF-beta1; predisposition to peptic ulcer disease could be linked to particular alleles of this gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147942.RAp2z4fZzfQIk8iNfmfytXVocby_DkG45GopYkrUvu8Ak130_provenance.
NP147943.RApwxPVvbymr-uU8QhSEOqyKo4G1Yyy7jNHF_KtW2TCPg130_assertion description "[the combination of bacterial iceA1 and TNF-alpha 238 G to A polymorphism may be a risk factor for peptic ulcer disease in children infected with Helicobacter pylori ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147943.RApwxPVvbymr-uU8QhSEOqyKo4G1Yyy7jNHF_KtW2TCPg130_provenance.
NP147946.RAjAer0pDpARkRODagaQHRsK3Km8ycUaVjFFDlmDtc2MQ130_assertion description "[The activity of this enzyme was studied in tissues, erythrocytes, and blood plasma of patients with peptic ulcer both in its uncomplicated course and in the development of complications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147946.RAjAer0pDpARkRODagaQHRsK3Km8ycUaVjFFDlmDtc2MQ130_provenance.
NP147949.RApYQBRa5obVBzCRM1Y101i5NzVY9ygngstY3Deg-5d8s130_assertion description "[presence of angiostatin in ascitic and pleural effusions from cancer patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147949.RApYQBRa5obVBzCRM1Y101i5NzVY9ygngstY3Deg-5d8s130_provenance.
NP147960.RAs8OFVYP5Tzhvh-L-A2D0hBTD5Qykli3cgeaSKvKfbeg130_assertion description "[Autoantibodies against the p53 proteins (p53 Abs) can be detected in the serum, ascites, saliva and pleural effusions of various malignant patients with tuberculosis pleurisy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147960.RAs8OFVYP5Tzhvh-L-A2D0hBTD5Qykli3cgeaSKvKfbeg130_provenance.
NP147966.RAomL1v23R7plhr6plADxfIeGvZJogpx12P7onAW5AXf0130_assertion description "[Nonsense mutation and a missense mutation in ABCC8 gene is associated with aberrant pancreatic development in congenital hyperinsulinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147966.RAomL1v23R7plhr6plADxfIeGvZJogpx12P7onAW5AXf0130_provenance.
NP147977.RAtH23WbuZhmhfpLtet27ozoTGNhNVWTiaPdxNTUUINH4130_assertion description "[in 5 cases of follicular dendritic cell sarcoma, study found diffuse intense positivity of the tumor cells for Glut-1 in all 5 cases and focal and weak immunoreaction for Claudin-1 in 3 cases ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147977.RAtH23WbuZhmhfpLtet27ozoTGNhNVWTiaPdxNTUUINH4130_provenance.
NP147983.RArAE17oukLdUWxUR4Cgpeq8lSnPe2dojzkVPc2OTaHQg130_assertion description "[Mutations in the regulatory domain responded to tetrahydrobiopterin even in patients with classical phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147983.RArAE17oukLdUWxUR4Cgpeq8lSnPe2dojzkVPc2OTaHQg130_provenance.
NP147988.RAtEvmZmLvg2cKP-7QlSUvc4tUi1P4izpDDPaN34Qp-_s130_assertion description "[While high levels of TGF-beta appeared to be associated with protection against periportal fibrosis during chronic schistosomiasis mansoni, the strength of the association was low.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147988.RAtEvmZmLvg2cKP-7QlSUvc4tUi1P4izpDDPaN34Qp-_s130_provenance.
NP147989.RAiYNOG5KvH69xcGiGyMFD2fqu-vwp_ZJZGU9nCrJ5jg4130_assertion description "[Significantly higher levels were found in soluble egg antigen-stimulated PBMC from schistosomiasis mansoni patients with degree III hepatic fibrosis compared to patients with degree I or II fibrosis, and in patients untreated for 1 year.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147989.RAiYNOG5KvH69xcGiGyMFD2fqu-vwp_ZJZGU9nCrJ5jg4130_provenance.
NP147991.RAhcBa8yTQ_78h95lSfuBpDh18RtQxmzzNDv3NaJRuSeo130_assertion description "[Two IFN-gamma polymorphisms (+2109 A/G and +3810 A/G) result in changes in nuclear protein interactions with intronic regions of IFN-gamma, which may play a critical role in the control of periportal fibrosis in hepatic schistosomiasis mansoni infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147991.RAhcBa8yTQ_78h95lSfuBpDh18RtQxmzzNDv3NaJRuSeo130_provenance.
NP147997.RAoCpcoNM8Tr9t0nWQfKYHJbSXyMr9Ewe2JwTFmuoc1SY130_assertion description "[Soluble transferrin receptor is an additional parameter to ferritin for the diagnosis of iron-deficiency anemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147997.RAoCpcoNM8Tr9t0nWQfKYHJbSXyMr9Ewe2JwTFmuoc1SY130_provenance.
NP148002.RAsp91JY08iy1vPpFCOCZjBtL6jO-5Er2bpUydgfzUj9k130_assertion description "[IL-1ra attenuated brain edema formation following intracerebral hemorrhage, perhaps by reduction of thrombin-induced brain inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148002.RAsp91JY08iy1vPpFCOCZjBtL6jO-5Er2bpUydgfzUj9k130_provenance.
NP148005.RAq-k4HLrfbhewyNrtSA7wjwk2-P6CKn0EziaK1MyYdCc130_assertion description "[Systemic activity of the enzymatic antioxidants (CuZn/SOD, MnSOD, GSH-Px, and CAT) as well as level of lipid peroxidation determined by MDA may not be increased in the course of immune-inflammatory processes associated with chronic idiopathic urticaria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148005.RAq-k4HLrfbhewyNrtSA7wjwk2-P6CKn0EziaK1MyYdCc130_provenance.
NP148012.RAgrlvAXVb2O2DoWQ1mM7FE1-KKJlwqlTL3rQ6YsiEO5A130_assertion description "[Syk kinase deficient basophils from patients with Chronic Idiopathic Urticaria exhibit a spectrum of releasability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148012.RAgrlvAXVb2O2DoWQ1mM7FE1-KKJlwqlTL3rQ6YsiEO5A130_provenance.
NP148019.RAnpqOCjRORdnba6bi4cGR-WXQdqDUs8ybdbcyFwpSeHM130_assertion description "[Chronic urticaria expresses high levels of HDC as compared to normal foreskin, breast skin and cultured human keratinocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148019.RAnpqOCjRORdnba6bi4cGR-WXQdqDUs8ybdbcyFwpSeHM130_provenance.
NP148024.RAnfXqtz67ng9GDQhxMSr-2gT0p2Ez-POKQ71_tUUdnMU130_assertion description "[Chronic urticaria expresses high levels of CRH-R1 as compared to normal foreskin, breast skin and cultured human keratinocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148024.RAnfXqtz67ng9GDQhxMSr-2gT0p2Ez-POKQ71_tUUdnMU130_provenance.
NP148025.RAsinW8-8QckV4IcQqySnenD-4-wqgJd4S5UN5LWf35cU130_assertion description "[Diabetic microangiopathy is accompanied by increase in CD11b expression and decrease in CD62L expression on peripheral blood neutrophils.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148025.RAsinW8-8QckV4IcQqySnenD-4-wqgJd4S5UN5LWf35cU130_provenance.
NP148028.RArPCzi19Lstvt3ZLsbvMg5ggEzgB1JOdGqOiO3ImnHhI130_assertion description "[diabetic microangiopathy is genetically heterogeneous; PON1 Leu/Leu increases the risk for retinopathy and PON2 Ser/Ser increases the risk for microalbuminuria ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148028.RArPCzi19Lstvt3ZLsbvMg5ggEzgB1JOdGqOiO3ImnHhI130_provenance.
NP148051.RAkkzidhvmKgerzJr3WxGFxCo9jckZUbuiHz8zgOzKt8U130_assertion description "[metacarpophalangeal arthropathy was independently associated with older age, higher ferritin, the presence of the C282Y +/+ and C282Y/H63D hemochromatosis protein (HFE) genotypes and higher percentage of transferrin saturation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148051.RAkkzidhvmKgerzJr3WxGFxCo9jckZUbuiHz8zgOzKt8U130_provenance.
NP148055.RAlh6PBX-6hzMM7qdnwOrbbhDI22vgHVzXkYVdJFeDXEM130_assertion description "[The clinical phenotypes and hemochromatosis (HFE) genotypes of adults who develop iron overload after ingesting iron supplements over long periods are heterogeneous.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148055.RAlh6PBX-6hzMM7qdnwOrbbhDI22vgHVzXkYVdJFeDXEM130_provenance.
NP148065.RAskciZdy5TR4Vy8e0DKCZc0f8rMMQg_aSh7JRCfvBiTs130_assertion description "[gene coding and flanking regions were sequenced and examined for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype or cause hemochromatosis independent of mutations in the HFE gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148065.RAskciZdy5TR4Vy8e0DKCZc0f8rMMQg_aSh7JRCfvBiTs130_provenance.
NP148073.RArri4U2QCQ8YhqcsxQ7abZSAVWoa8g7LhThr4c9OWhAE130_assertion description "[ferroportin mutations A77D, V162delta, and G490D are associated with a typical pattern of hemochromatosis disease in vivo ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148073.RArri4U2QCQ8YhqcsxQ7abZSAVWoa8g7LhThr4c9OWhAE130_provenance.
NP148077.RArIpUrvuywrO_Q9mDIw5JsCV9nVR_rXuGVr9pjRljXRU130_assertion description "[the rate of change of serum ferritin in untreated HFE (hemochromatosis protein) C282Y homozygotes is highly variable and may increase or decrease over time ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148077.RArIpUrvuywrO_Q9mDIw5JsCV9nVR_rXuGVr9pjRljXRU130_provenance.
NP148080.RAnfoj0DYFLjqHTmA8qqrqDuRdArf-EkMMwnMstDAKsAc130_assertion description "[The loss of HJV membrane export is central to the pathogenesis of juvenile hemochromatosis; HJV cleavage is essential for the export.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148080.RAnfoj0DYFLjqHTmA8qqrqDuRdArf-EkMMwnMstDAKsAc130_provenance.
NP148081.RAvFA_8ThjQ3-TQvQahw9X8llpAep2VanByWqG3ckmUiQ130_assertion description "[17 different (16 novel) mutations of HJV, both at the homozygous and at the compound heterozygous state in juvenile hemochromatosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148081.RAvFA_8ThjQ3-TQvQahw9X8llpAep2VanByWqG3ckmUiQ130_provenance.
NP148082.RAvMzlpdgNEHCNAhsoSilpsOWgvYSfu3297z50ICTeF4w130_assertion description "[compound heterozygous mutations in hemojuvelin may have a role in juvenile hemochromatosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148082.RAvMzlpdgNEHCNAhsoSilpsOWgvYSfu3297z50ICTeF4w130_provenance.
NP148084.RAkFRwRqtc3evKM0sfJ86dFW7mDSf38aIZFQ_q0VNHm0I130_assertion description "[nonsense mutation (G66X) causes severe juvenile hemochromatosis with fatal cardiomyopathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148084.RAkFRwRqtc3evKM0sfJ86dFW7mDSf38aIZFQ_q0VNHm0I130_provenance.
NP148087.RArZWjNR-q_ohhLa3BR2OacePjZnNEs_vANgVXJnpqQTM130_assertion description "[The researchers identified a nonsense Q312X mutation in the hemojuvelin gene that increases ferritin levels and leads to juvenile hemochromatosis that is associated with severe cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148087.RArZWjNR-q_ohhLa3BR2OacePjZnNEs_vANgVXJnpqQTM130_provenance.
NP148092.RAvZqTt2SZKraY5EIRzUMMARXe4Gcar_TpAuNx0Hyhf4E130_assertion description "[Iron overload and hemochromatosis my be due to a deficiency in hepcidin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148092.RAvZqTt2SZKraY5EIRzUMMARXe4Gcar_TpAuNx0Hyhf4E130_provenance.
NP148094.RAtbINt_YYxydZCrELEtCmI8DoEBVwWDzNbjlBXk-J9EI130_assertion description "[Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148094.RAtbINt_YYxydZCrELEtCmI8DoEBVwWDzNbjlBXk-J9EI130_provenance.
NP148096.RApArnXd7Pz5ph3Jk13kUtQlVqgzTnMLE7b0WRplqnh14130_assertion description "[Iron overload and hemochromatosis my be due to a deficiency in hepcidin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148096.RApArnXd7Pz5ph3Jk13kUtQlVqgzTnMLE7b0WRplqnh14130_provenance.
NP148098.RAgiMi316bCDo6dYFbuqswxwnyCMQ0CSGZNo1Hr30KGq0130_assertion description "[data suggest a close relationship between the transferrin saturation and hepatic hepcidin expression in hereditary hemochromatosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148098.RAgiMi316bCDo6dYFbuqswxwnyCMQ0CSGZNo1Hr30KGq0130_provenance.
NP148104.RAhJ7EDI_IHMT7u-71FMorx_-29Z6bhq_IcIDCwd2GlxQ130_assertion description "[CDA I patients express very high levels of serum GDF15, and GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148104.RAhJ7EDI_IHMT7u-71FMorx_-29Z6bhq_IcIDCwd2GlxQ130_provenance.
NP148108.RAggqkFJ0vWq-DSgcKQlH1pRMFM1xCQUvaOeY_PHQj9Z8130_assertion description "[liver levels or this protein are down-regulated in hemochromatosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148108.RAggqkFJ0vWq-DSgcKQlH1pRMFM1xCQUvaOeY_PHQj9Z8130_provenance.
NP148109.RAie5bO-G5KJvF32OtJe2RPd2TcZQMVFWwo94uP1Ist_A130_assertion description "[gene coding and flanking regions were sequenced and examined for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype or cause hemochromatosis independent of mutations in the HFE gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148109.RAie5bO-G5KJvF32OtJe2RPd2TcZQMVFWwo94uP1Ist_A130_provenance.
NP148113.RAllgow5Fh7_aZ6A6ZbVOXE2iy-SnxqMybg-vLYMp4ZLE130_assertion description "[The study demonstrates that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragil X-associated tremor/ataxia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148113.RAllgow5Fh7_aZ6A6ZbVOXE2iy-SnxqMybg-vLYMp4ZLE130_provenance.
NP148116.RAkZr9E-XeW0_aBvmYH_vqQFqhCIRnTGYr1lq3pYQ04TQ130_assertion description "[Analysis of FMR1 messenger RNA (mRNA) within the intranuclear inclusions isolated from post-mortem brain tissue of a fragile X-associated tremor/ataxia syndrome (FXTAS) patient leads to a proposed RNA toxic gain-of-function model for FXTAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148116.RAkZr9E-XeW0_aBvmYH_vqQFqhCIRnTGYr1lq3pYQ04TQ130_provenance.
NP148119.RAqfpvACJHeAGGvr7gcT84y4nmFFWbKP8AfXE6VXjgITQ130_assertion description "[Mutations in SOX18 underlie recessive and dominat forms of hypertrichosis-lymphedema- telangiectasis/]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148119.RAqfpvACJHeAGGvr7gcT84y4nmFFWbKP8AfXE6VXjgITQ130_provenance.
NP148126.RAkJYnVPmUskosUywAg9s9PdVjAj08n1wSTCkpM3CJIIY130_assertion description "[Mutation found in 53% of hereditary hemorragic telangiectasia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148126.RAkJYnVPmUskosUywAg9s9PdVjAj08n1wSTCkpM3CJIIY130_provenance.
NP148135.RAtjk1EiuSd7czVAu6e84HkWrdz_prqaA7okTkyfG-yt8130_assertion description "[28 new mutations of factor VIII are described, among 109 Andalusian hemophilia A patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148135.RAtjk1EiuSd7czVAu6e84HkWrdz_prqaA7okTkyfG-yt8130_provenance.
NP148138.RAoRCHWtGYM9N0LLH2H3UxIq6om9TrqYJXIITvgdp1D_k130_assertion description "[a missense mutation in factor VIII gene may have a role in hemophilia A diagnosed in a female with Swyer syndrome [case report]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148138.RAoRCHWtGYM9N0LLH2H3UxIq6om9TrqYJXIITvgdp1D_k130_provenance.
NP148139.RApt6iTfoxgTRMiy_ZeywS06YPO4B4HD2RkjD-TpPtUhM130_assertion description "[In the Spanish population, the prothrombin 20210A (PT20210A) allele is the most prevalent genetic risk factor for venous thromboembolism in hemophilia A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148139.RApt6iTfoxgTRMiy_ZeywS06YPO4B4HD2RkjD-TpPtUhM130_provenance.
NP148140.RAgGTuGDrDEKfkYN4geJE5PpZr2szLppyd95xwMLQ_i2Q130_assertion description "[Patient with hemophilia A who had an acute myocardial infarction and in whom investigation for hereditary thrombophilia showed the G20210A prothrombin mutation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148140.RAgGTuGDrDEKfkYN4geJE5PpZr2szLppyd95xwMLQ_i2Q130_provenance.
NP148143.RArcVb9Bh0KtgPn5oPRtcaQnlchy66-4YbRvaS_b-_oj0130_assertion description "[Factor VIII-specific memory B cells are absent or present at low levels in patients with hemophilia A who have been successfully treated with immune tolerance induction ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148143.RArcVb9Bh0KtgPn5oPRtcaQnlchy66-4YbRvaS_b-_oj0130_provenance.
NP148145.RAixq_o8u-JIwnFZjOx4VujJ8-dtazTjq-KItyHDzN1lk130_assertion description "[Case Report: Identification of a new mutation in the SRY gene in a 46, XY woman with Swyer syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148145.RAixq_o8u-JIwnFZjOx4VujJ8-dtazTjq-KItyHDzN1lk130_provenance.
NP148162.RAjP7yCe4WkiuZhsux24-MCDTMQigCfW-QBV6e39QVXhM130_assertion description "[high levels of coagulation FXI, FIX and FVIII are related to risk of inherited thrombophilia syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148162.RAjP7yCe4WkiuZhsux24-MCDTMQigCfW-QBV6e39QVXhM130_provenance.
NP148166.RApoJWZijpwt2qjXrCZ5JlCzX2Ypzh1Qs7TqQSE63iZFE130_assertion description "[RECK is a glycosylphosphatidylinositol-anchored glycoprotein that inhibits the enzymatic activities of matrix metalloproteinases (MMP), thereby suppressing fibrosarcoma metastasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148166.RApoJWZijpwt2qjXrCZ5JlCzX2Ypzh1Qs7TqQSE63iZFE130_provenance.
NP148167.RAq8krtWlSUJLFBVDhbLnJ9xDI9mzyfu4RiTkwKhfNqDc130_assertion description "[Comparison and modulation of angiogenic responses by FGFs, VEGF and SCF in murine and human fibrosarcomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148167.RAq8krtWlSUJLFBVDhbLnJ9xDI9mzyfu4RiTkwKhfNqDc130_provenance.
NP148170.RAnkWlc7SoTay3iDny4R5e0-y4jccBBB42wrzOg-7ImpY130_assertion description "[DTDST is upregulated by dexamethasone stimulation of HT1080 fibrosarcoma cells and is required for fibronectin (FN) extracellular matrix deposition by these cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148170.RAnkWlc7SoTay3iDny4R5e0-y4jccBBB42wrzOg-7ImpY130_provenance.
NP148172.RAp61UkocdmOkDEf_BSoJQrLpBY0mn3xNINGtMzkbQLgI130_assertion description "[Bcl-x (L) is a key target mediating the anti-apoptotic effects of glucocorticoids during fibrosarcoma development ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148172.RAp61UkocdmOkDEf_BSoJQrLpBY0mn3xNINGtMzkbQLgI130_provenance.
NP148176.RAq1tIwHwN9j0n-8fjBaKqrNWzu3oyRR6POPHSJ4wmYAM130_assertion description "[Tryptase and chymase and protein levels were determined in mast cells in fibrosarcoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148176.RAq1tIwHwN9j0n-8fjBaKqrNWzu3oyRR6POPHSJ4wmYAM130_provenance.
NP148193.RAu1gmYCIfQlut8QywzlqifzYGaraYci6ZW2c8P-u9jOE130_assertion description "[Using both direct genomic DNA sequencing and novel mutant-enriched sequencing methods developed specifically for the 3 hot-spot mutations (H1047R, E545K and E452K) of PIK3CA, we detected 5 mutations of PIK3CA in the 24 pharyngeal cancers (20.8%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148193.RAu1gmYCIfQlut8QywzlqifzYGaraYci6ZW2c8P-u9jOE130_provenance.
NP148203.RAqIKCbVPMLvTNMEjk2hnHk5VcqdAhsIyc2xVx1TKlWl8130_assertion description "[a diagnostic marker of thrombus formation in patients with cerebral infarction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148203.RAqIKCbVPMLvTNMEjk2hnHk5VcqdAhsIyc2xVx1TKlWl8130_provenance.
NP148205.RAn9Ldks4HTAQ9w_sKQBKNIQA6Zerl98Hp1a6h5Gr0Tgw130_assertion description "[The determination of bFGF will be helpful in estimating the size of infarct lesion at acute stage of cerebral infarction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148205.RAn9Ldks4HTAQ9w_sKQBKNIQA6Zerl98Hp1a6h5Gr0Tgw130_provenance.
NP148229.RAg290aNd5mtARjgRXj2g8sqHYo7OUlqazdKfmaejSBqo130_assertion description "[Risk of cerebral infarction is increased by the ADH2*1 allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148229.RAg290aNd5mtARjgRXj2g8sqHYo7OUlqazdKfmaejSBqo130_provenance.
NP148231.RAm7MLevlIV5pS5E1z1e8Af4NUheGqI3yzqqCPKp3FqrE130_assertion description "[Our study suggests that in the acute phase of the cerebral infarction CRP might be either a marker of cardioembolism or a predictive factor for short-term mortality.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148231.RAm7MLevlIV5pS5E1z1e8Af4NUheGqI3yzqqCPKp3FqrE130_provenance.
NP148237.RAh2htdKTW9SnIzLmwKcOKbIAy0Qi83Vj1bUYcMl635eM130_assertion description "[polymorphisms should be regarded as independent risk factors for spina bifida ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148237.RAh2htdKTW9SnIzLmwKcOKbIAy0Qi83Vj1bUYcMl635eM130_provenance.
NP148240.RAhvm92dZe6JzV6QY9fmzQ4JcE8pQKzuQg9SzCESXAG9I130_assertion description "[Variants influence the risk of spina bifida via the maternal rather than the embryonic genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148240.RAhvm92dZe6JzV6QY9fmzQ4JcE8pQKzuQg9SzCESXAG9I130_provenance.
NP148242.RAiBRGJJDiySbFn9PpExfoggNzv_MpcbhZdYmyuRVv_ow130_assertion description "[JMJ was evaluated against risk factors for spinal dysraphism and congenital heart defects/within exons and introns of JMJ might be in linkage disequlibrium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148242.RAiBRGJJDiySbFn9PpExfoggNzv_MpcbhZdYmyuRVv_ow130_provenance.
NP148244.RApPVRZm-8ZOGUm-W1-leWDBGxYEZSq-z8yJ273VM5c3E130_assertion description "[The genotype for the NAT1 C1095A polymorphism does not appear to be an independent risk factor for spina bifida.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148244.RApPVRZm-8ZOGUm-W1-leWDBGxYEZSq-z8yJ273VM5c3E130_provenance.
NP148247.RAqBcVUFyF2cuSfabazli4r92ZPOLCSxSCcPoAH8yddQ8130_assertion description "[g.3116delT mutation is of particular interest because it was identified in a patient with spina bifida and likely encodes a truncated protein with no enzymatic activity, as demonstrated by preliminary in vitro data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148247.RAqBcVUFyF2cuSfabazli4r92ZPOLCSxSCcPoAH8yddQ8130_provenance.
NP148250.RAplYc4t3mty38a-Xt6HgAF2IyMGdsVV3FLYsJ7RLjcr4130_assertion description "[Individuals homozygous for the 17GT allele for BRCA1 D17S1323 were more likely to have spina bifida lesions located caudally, while heterozygotes with the 17GT allele for BRCA1 D17S1323 had a more rostral lesion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148250.RAplYc4t3mty38a-Xt6HgAF2IyMGdsVV3FLYsJ7RLjcr4130_provenance.
NP148256.RAhDhl1S8e963HClxIl9XXuCIoKax5QmkaeuQ6-TP7Hi0130_assertion description "[single nucleotide polymorphisnms on gene involved with glucose metabolism and obesity may be associated with increased susceptibility to spina bifida ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148256.RAhDhl1S8e963HClxIl9XXuCIoKax5QmkaeuQ6-TP7Hi0130_provenance.
NP148263.RApZEdXGSKugtPW3FuFhkZEp1lMs3rNtidr2UH-VTbLNw130_assertion description "[Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148263.RApZEdXGSKugtPW3FuFhkZEp1lMs3rNtidr2UH-VTbLNw130_provenance.
NP148277.RArLbwoboZo22GGfOLa3aMfGsHHCTBrjAqVA9N15yxAIA130_assertion description "[The combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of gestational hypertension, but seemingly not of preeclampsia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148277.RArLbwoboZo22GGfOLa3aMfGsHHCTBrjAqVA9N15yxAIA130_provenance.
NP148279.RAqKOE_oo2AWZfDMXKZIvMzjmO3ZbaAiALOdN-Xdnnz9g130_assertion description "[findings suggest the presence of an abnormality in the kallikrein-kinin system in the placentas of women with pregnancy-induced hypertension ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148279.RAqKOE_oo2AWZfDMXKZIvMzjmO3ZbaAiALOdN-Xdnnz9g130_provenance.
NP148288.RAlnvkIHHgVRaAqaSaFRaTsgFCdX0Qf_xSOKC0EVw-cYg130_assertion description "[Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148288.RAlnvkIHHgVRaAqaSaFRaTsgFCdX0Qf_xSOKC0EVw-cYg130_provenance.
NP148300.RAsA1BL-ux4QFAgnawe2OglNY7DMq8RtieYapC6UqJ3wg130_assertion description "[analysis of missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val) [letter]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148300.RAsA1BL-ux4QFAgnawe2OglNY7DMq8RtieYapC6UqJ3wg130_provenance.
NP148306.RAq-bNAFjwoShItlM7znopcKTUoQbHsAsMXwF2rCNskQY130_assertion description "[Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148306.RAq-bNAFjwoShItlM7znopcKTUoQbHsAsMXwF2rCNskQY130_provenance.
NP148307.RAtrc3DPv96s4Gt6__nEnGSEOKd4dRwVbTH2rmfDNRluw130_assertion description "[partial IFNGR1 mutations in Japanese patients with BCG osteomyelitis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148307.RAtrc3DPv96s4Gt6__nEnGSEOKd4dRwVbTH2rmfDNRluw130_provenance.
NP148316.RAvmxmmdNJb0mm5xiL3QTeEnmLGBRmMQcpG61cOY41ado130_assertion description "[the anemia of chronic kidney disease was associated with up regulation of TNF-alpha, and possibly IL-6 and IL-8 along with increased levels of these proinflammatory cytokines in patients treated with epoetin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148316.RAvmxmmdNJb0mm5xiL3QTeEnmLGBRmMQcpG61cOY41ado130_provenance.
NP148318.RApjkTIsaKjcQhSrQFArdubCUY5852yBvY3uNeRiSauY0130_assertion description "[Serum levels of albumin and CRP correlated with dialysis patients'treatment costs/the Kidney Disease Outcomes Quality Initiative targets may be associated with lower costs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148318.RApjkTIsaKjcQhSrQFArdubCUY5852yBvY3uNeRiSauY0130_provenance.
NP148319.RArdDLxOMCPICs4XrLoKT6AQxLNy60roV-5V5vy2NkX3w130_assertion description "[The aim of this study was to evaluate the levels of ischemia-modified albumin and lactate in patients with established anemia associated with chronic kidney disease and its correlations with hemoglobin levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148319.RArdDLxOMCPICs4XrLoKT6AQxLNy60roV-5V5vy2NkX3w130_provenance.
NP148320.RArxbFM_yAk37yNQIF2Kn2eArbmg8spb5w8x_Ec25vKrI130_assertion description "[CysC assay helps in the diagnosis and stratification of chronic kidney disease and leads to better estimates of glomerular filtration rate in diabetic patients without any substantial increase in complexity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148320.RArxbFM_yAk37yNQIF2Kn2eArbmg8spb5w8x_Ec25vKrI130_provenance.
NP148325.RAmqNEN97-35WtTUpNoWlf-9JnB_WdOuy3d5-0knyIB2A130_assertion description "[Role of the serine protease urokinase-type plasminogen activator and its high affinity receptor uPAR/CD87 in chronic kidney disease [REVIEW].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148325.RAmqNEN97-35WtTUpNoWlf-9JnB_WdOuy3d5-0knyIB2A130_provenance.
NP148328.RAjULkk-44RXDIhlpp3DJDzx_rPHv4wj5KQdg_yMXXbLg130_assertion description "[in the setting of chronic kidney diseases, elevated urine NGAL levels are associated with the development of acute kidney injury.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148328.RAjULkk-44RXDIhlpp3DJDzx_rPHv4wj5KQdg_yMXXbLg130_provenance.
NP148331.RAlWU5BZ0w3q2rML5LyTGbOwsD21l1KxQg2pErHwBYmm0130_assertion description "[Protien Z levels were reduced in patients with chronic kidney disease, and not elevated in patients on haemodialysis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148331.RAlWU5BZ0w3q2rML5LyTGbOwsD21l1KxQg2pErHwBYmm0130_provenance.
NP148337.RAhMrMq1UpOsEyZL9FC8P_v7kr-HUorXKXGk8_ZmQrZ3w130_assertion description "[concentrations in nondialyzed chronic kidney disease patients, and the relationship with acidosis, zinc, anemia, and iron supplementation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148337.RAhMrMq1UpOsEyZL9FC8P_v7kr-HUorXKXGk8_ZmQrZ3w130_provenance.
NP148357.RAgMdFxTzEKgvdYgS2nSTjjTDVeOp57_E2ask7BzmPQJo130_assertion description "[Data show that High Mobility Group Box Protein-1 (HMGB-1) is elevated significantly in chronic kidney disease patients and correlates with glomerular filtration rate as well as with markers of inflammation and malnutrition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148357.RAgMdFxTzEKgvdYgS2nSTjjTDVeOp57_E2ask7BzmPQJo130_provenance.
NP148360.RAq5oaBv75CWAezHCi94YaBx319VOY4yiakN6Kb8nk6tA130_assertion description "[Genetic variations in xanthine dehydrogenase contribute partly to hypertension and its complications, including atherosclerosis and chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148360.RAq5oaBv75CWAezHCi94YaBx319VOY4yiakN6Kb8nk6tA130_provenance.

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