Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP126754.RAQC4-2J_kQb776w9OQO9pcLhFKQ1KZHFlZUaSk8w8nX4130_assertion description "[No evidence for methylenetetrahydrofolate reductase enzyme polymorphisms as a maternal risk factor for Down syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126754.RAQC4-2J_kQb776w9OQO9pcLhFKQ1KZHFlZUaSk8w8nX4130_provenance.
- NP126758.RAZfqTndrPXUYW94vTaar_qHD5D3eEzTmjQECmxF3npxc130_assertion description "[Potential role of SIM2 in central nervous system development/overexpression could participate in pathogenesis of mental retardation in Down syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126758.RAZfqTndrPXUYW94vTaar_qHD5D3eEzTmjQECmxF3npxc130_provenance.
- NP126762.RAa-eWcPSKP6RwPdSmjqrw3qdXl6e3Lc86XN_6zElfzdw130_assertion description "[This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126762.RAa-eWcPSKP6RwPdSmjqrw3qdXl6e3Lc86XN_6zElfzdw130_provenance.
- NP126766.RAWHX56gp6_cXTymXQYLFnndXkG9G1lGp2X8FDufGB27Y130_assertion description "[expression of nucleoside diphosphate kinase in Alzheimer disease and Down syndrome brains ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126766.RAWHX56gp6_cXTymXQYLFnndXkG9G1lGp2X8FDufGB27Y130_provenance.
- NP126767.RAbsag2fhWLMP_x0VPv9-HOWfW7HHdUO98k1UlruJ1IW4130_assertion description "[The considerably decreased alpha-endosulfine could result in the continuous opening of K (ATP) channels and the subsequent decrease of neurotransmitters release associated with cognition in Down Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126767.RAbsag2fhWLMP_x0VPv9-HOWfW7HHdUO98k1UlruJ1IW4130_provenance.
- NP126771.RAVAV12sHXUyCsnbxhDbkxEMaYEp6Bw2lh2UmA76z6BXU130_assertion description "[expression of nucleoside diphosphate kinase in Alzheimer disease and Down syndrome brains ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126771.RAVAV12sHXUyCsnbxhDbkxEMaYEp6Bw2lh2UmA76z6BXU130_provenance.
- NP126776.RAUF_Co893ROmzOqwcdF_vCpEitJ57rHKVrsSEBGUB5Ug130_assertion description "[a deletion in the CC2D1A gene has been linked to nonsyndromic mental retardation/deletion results in the truncation of the helix-loop-helix DNA binding and the C2 domains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126776.RAUF_Co893ROmzOqwcdF_vCpEitJ57rHKVrsSEBGUB5Ug130_provenance.
- NP126786.RARx_NdtG5QsrCk2ragqjS1I3MB5ZGmA-mc31G4N1zmlQ130_assertion description "[novel mutations and novel polymorphisms in coding regions and 3'UTR were detected in patients with with non-syndromic mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126786.RARx_NdtG5QsrCk2ragqjS1I3MB5ZGmA-mc31G4N1zmlQ130_provenance.
- NP126788.RASNHDNWhPrwhy4LWNycWcea3BeXSYklpiCn7i2_0TIe0130_assertion description "[study shows that mutations in two OTase-subunit genes, N33/TUSC3 and IAP result in autosomal-recessive nonsyndromic mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126788.RASNHDNWhPrwhy4LWNycWcea3BeXSYklpiCn7i2_0TIe0130_provenance.
- NP126790.RAZWYGAMjp97muu0RtNcKhVb16l9TxczNLMjoFg6nB-bU130_assertion description "[Rare polymorphisms in boys with non-specific mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126790.RAZWYGAMjp97muu0RtNcKhVb16l9TxczNLMjoFg6nB-bU130_provenance.
- NP126791.RAaWp0Vf1UCd4RNLYbOVV5DBPnSWoWwK2w1Ps9NR27Bp4130_assertion description "[report a complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2, also called " GLUR6 ") that cosegregates with moderate-to-severe nonsyndromic autosomal recessive mental retardation in a large, consanguineous Iranian family ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126791.RAaWp0Vf1UCd4RNLYbOVV5DBPnSWoWwK2w1Ps9NR27Bp4130_provenance.
- NP126792.RAWd2Gvs-lEiy9YjrIJhU5VI4gqWtvdNvr86X-cFuTJEk130_assertion description "[Point mutations to large genomic deletions of RUNX1 gene is associated with thrombocytopenia and mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126792.RAWd2Gvs-lEiy9YjrIJhU5VI4gqWtvdNvr86X-cFuTJEk130_provenance.
- NP126797.RAeAgBonwU_Tvjxaw-WYCs7w6RmaBBMwYUOXDLdhh-tsw130_assertion description "[4-base pair deletion in the neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation; findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126797.RAeAgBonwU_Tvjxaw-WYCs7w6RmaBBMwYUOXDLdhh-tsw130_provenance.
- NP126802.RAUyzhrgrxGr1mhQTkMzbvjSRKI1QcogwKhge-ObeFo90130_assertion description "[A nonsense mutation causing a premature stop codon in CRBN was found in a large kindred with mild mental retardation/degradation of proteins may play a role in memory and learning.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126802.RAUyzhrgrxGr1mhQTkMzbvjSRKI1QcogwKhge-ObeFo90130_provenance.
- NP126804.RAU-PDzvGqF-imbN5ip1sBD1da6gVBhurui_dP567JqJs130_assertion description "[Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and subcortical band heterotopia (SBH) in boys.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126804.RAU-PDzvGqF-imbN5ip1sBD1da6gVBhurui_dP567JqJs130_provenance.
- NP126806.RAWBv74rXv2c8iuii4hf83XL5Kd1zdEWotMopb5u8KB3M130_assertion description "[C21orf5, could play a role in brain morphogenesis and, when overexpressed, it could participate in neurological features and mental retardation observed in DS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126806.RAWBv74rXv2c8iuii4hf83XL5Kd1zdEWotMopb5u8KB3M130_provenance.
- NP126807.RAWLVnz93IG4yHlftQm8eDwC2Yi4wrbXY6URx3VNjwPcE130_assertion description "[Genetic deletion of CASK results in haploinsufficiency, which might cause X-linked dominant mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126807.RAWLVnz93IG4yHlftQm8eDwC2Yi4wrbXY6URx3VNjwPcE130_provenance.
- NP126808.RAY4z-ORwU3Cg5Vn7miO1f1w1zFJb5qgbCZT5F7HtfvmU130_assertion description "[a mutation in the genomically imprinted potassium channel KCNK9 may have a role in the maternally inherited Birk Barel mental retardation dysmorphism syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126808.RAY4z-ORwU3Cg5Vn7miO1f1w1zFJb5qgbCZT5F7HtfvmU130_provenance.
- NP126811.RAS8gvrw8X5uZ-39ZjcJeUuNZuq36Hpc8txRxG8cUA2ck130_assertion description "[Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126811.RAS8gvrw8X5uZ-39ZjcJeUuNZuq36Hpc8txRxG8cUA2ck130_provenance.
- NP126815.RAc7cKb6u4Ze-dBNCwP3mZjYQFJWP_JKH03PCR_BGsAYo130_assertion description "[data suggest that the CDKL3 gene is a strong candidate for nonsyndromal autosomal dominant mild mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126815.RAc7cKb6u4Ze-dBNCwP3mZjYQFJWP_JKH03PCR_BGsAYo130_provenance.
- NP126816.RAQNIHuG5Wy9q_dFT9XUxw4CYRAemGFa-CiBgc4xaXB0k130_assertion description "[REVIEW: ATRX encodes a trans-acting factor capable of influencing the expression of alpha-globin and other genes, and involved in alpha-thalassemia associated with mental retardation and acquired alpha-thalassemia associated with myelodysplastic syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126816.RAQNIHuG5Wy9q_dFT9XUxw4CYRAemGFa-CiBgc4xaXB0k130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion description "[Mutations in SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126821.RAXf0i1NUH1a22uhN7HgTZ9PrS7S8fWPNV3sPREtmr5xE130_assertion description "[Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126821.RAXf0i1NUH1a22uhN7HgTZ9PrS7S8fWPNV3sPREtmr5xE130_provenance.
- NP126823.RAd8RMYj4JfuUAhlUS5_RqZbsrusfrWcc-vCfaajqrlM8130_assertion description "[Ile304Asn mutation both perturbs the structure and destabilizes fragile X mental retardation protein ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126823.RAd8RMYj4JfuUAhlUS5_RqZbsrusfrWcc-vCfaajqrlM8130_provenance.
- NP126826.RAacPa1s0DyPNFr3tU518lKvlypeO7fCPSoWAaqArbbvk130_assertion description "[The gene KLF8 is abnormally expressed in a female patient with X; autosome translocation t (X; 21) (p11.2; q22.3) and non-syndromic mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126826.RAacPa1s0DyPNFr3tU518lKvlypeO7fCPSoWAaqArbbvk130_provenance.
- NP126831.RATlIEXPiIZwKtkkHnmxdOWeIkwIzwXlVlU5kvHm89PrY130_assertion description "[In Sotos and Weaver syndromes mental retardation was consistently more severe in patients with NSD1 deletions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126831.RATlIEXPiIZwKtkkHnmxdOWeIkwIzwXlVlU5kvHm89PrY130_provenance.
- NP126837.RAb7xmw4N3aAVmPLvtKWMoeVNqkZYKLkEtgpa-8hNyA4s130_assertion description "[novel mutations and novel polymorphisms in coding regions and 5'UTR were detected in patients with with non-syndromic mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126837.RAb7xmw4N3aAVmPLvtKWMoeVNqkZYKLkEtgpa-8hNyA4s130_provenance.
- NP126842.RAWElKtk6sdALlspqEyhvP_llvxQHvalBotZ0L0aZLAAM130_assertion description "[Potential role of SIM2 in central nervous system development/overexpression could participate in pathogenesis of mental retardation in Down syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126842.RAWElKtk6sdALlspqEyhvP_llvxQHvalBotZ0L0aZLAAM130_provenance.
- NP126850.RAQR7Ep3VmYsbAYVdtgkwZpmD8sF6nmsOyW_Cy19-hjvk130_assertion description "[Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126850.RAQR7Ep3VmYsbAYVdtgkwZpmD8sF6nmsOyW_Cy19-hjvk130_provenance.
- NP126851.RAXqcdgzlAmG7ZqYTtuiJqOBRankT1kp1xCUemcp-ch5Q130_assertion description "[Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126851.RAXqcdgzlAmG7ZqYTtuiJqOBRankT1kp1xCUemcp-ch5Q130_provenance.
- NP126868.RAVrqVhoBgIq4r_-UAUTgG_msmtflObIqh15qp5-o1MV0130_assertion description "[The unique combination of a particularly slow inactivation of mutant S218L CaV2.1 channel during cortical spreading depression and a somewhat low threshold of channel activation might lead to delayed severe cerebral edema and coma after minor head trauma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126868.RAVrqVhoBgIq4r_-UAUTgG_msmtflObIqh15qp5-o1MV0130_provenance.
- NP126869.RAUPgeLimsPLM7-2RhQrkoGZHwoemq4oWsaCO_DRKFaYA130_assertion description "[Doublecortin (DCX) upregulation, correlates with better neurologic outcome in children following traumatic head injury.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126869.RAUPgeLimsPLM7-2RhQrkoGZHwoemq4oWsaCO_DRKFaYA130_provenance.
- NP126878.RAWp1kHxJE8FTI_5_2GOiLbYAQ19j78uytd5MeyJGYXPI130_assertion description "[Polymorphic in brain cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126878.RAWp1kHxJE8FTI_5_2GOiLbYAQ19j78uytd5MeyJGYXPI130_provenance.
- NP126879.RAVgjFRRT6RSqB1Gt4-rnYIAor5h6DbqpQ2FQYcM9abJQ130_assertion description "[Polymorphic in brain cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126879.RAVgjFRRT6RSqB1Gt4-rnYIAor5h6DbqpQ2FQYcM9abJQ130_provenance.
- NP126883.RATVzlav-ggxM8HGodB-TVxHo1_eHIjyzJ7GkyerDywRs130_assertion description "[overexpression sensitizes brain tumor cells to apoptosis after DNA alkylation damage; may link WNT and p53 pathways ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126883.RATVzlav-ggxM8HGodB-TVxHo1_eHIjyzJ7GkyerDywRs130_provenance.
- NP126887.RAXKqhb4cmQ_nIiHwFVUEZnSZHjU6isBFSlYO4YQkuheM130_assertion description "[Therefore, the inhibition of MMP-9 expression by curcumin might have therapeutic potential for controlling the growth and invasiveness of brain tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126887.RAXKqhb4cmQ_nIiHwFVUEZnSZHjU6isBFSlYO4YQkuheM130_provenance.
- NP126889.RAeCT-vvh7lyfAT1ajzs2QT2wD0ThFG3_ACq65YSwG3Xk130_assertion description "[DEC1 expression is found in the majority of 1p-aberrant oligodendroglial neoplasms; its immunohistochemical detection does not correlate with tisue hypoxia in this type of primary brain tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126889.RAeCT-vvh7lyfAT1ajzs2QT2wD0ThFG3_ACq65YSwG3Xk130_provenance.
- NP126890.RAQW5kdJcy8zvRCDDbCPm2gOqKdv44Wf5lBTKt8oean0o130_assertion description "[E2F1 may participate in telomerase activity regulation in malignant glioma cells/expression appears to be strongly associated with the survival of patients with malignant brain tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126890.RAQW5kdJcy8zvRCDDbCPm2gOqKdv44Wf5lBTKt8oean0o130_provenance.
- NP126894.RASezoQ2ShQhmOJdO-sMQty7Iz-xpoYwfxFX1LRVXW3jg130_assertion description "[Results describe the minimal bacteria-binding site on DMBT1 (deleted in malignant brain tumors 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126894.RASezoQ2ShQhmOJdO-sMQty7Iz-xpoYwfxFX1LRVXW3jg130_provenance.
- NP126900.RAU2Rv5WCHHwwC66etbtOCNtT67VtOBY6-qEUXCrxesDI130_assertion description "[differences in STS and SULT activity in brain tumors (glioblastomas, pituitary adenomas, meningiomas, astrocytomas) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126900.RAU2Rv5WCHHwwC66etbtOCNtT67VtOBY6-qEUXCrxesDI130_provenance.
- NP126903.RATdl1psq9l7jRX3qs-_k9cQ3rlUBMNWtvBb_qRiMFCKw130_assertion description "[PDE4 is widely expressed in brain tumors and promotes their growth ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126903.RATdl1psq9l7jRX3qs-_k9cQ3rlUBMNWtvBb_qRiMFCKw130_provenance.
- NP126904.RAQi0yCmPK2AORXQ4yZMKFQ27HRg5b5xY9YniOjEBkfhI130_assertion description "[As well as other types of carcinomas, overexpression of IGFBP-2 has been reported in glioblastoma multiforme (GBM), the most malignant brain tumor characterized by rapid growth, extensive invasiveness, and angiogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126904.RAQi0yCmPK2AORXQ4yZMKFQ27HRg5b5xY9YniOjEBkfhI130_provenance.
- NP126906.RAVHf-8HlIZMBhIBReba9PtQxdVozPqxHV9cBhP6HTw9w130_assertion description "[Our results suggest that their upregulation and activation may be a consequence of increased SPARC expression/data provide a provisional mechanism whereby SPARC contributes to brain tumor invasion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126906.RAVHf-8HlIZMBhIBReba9PtQxdVozPqxHV9cBhP6HTw9w130_provenance.
- NP126910.RAeWEr8m7qP3yMwmPipZCRtoFlkZu_37TSnNxlKJxY4F4130_assertion description "[PTEN mRNA levels were significantly lower in the glioma tissues than in the benign brain tumors and tumor-adjacent normal tissues, whereas there were no statistical differences between benign brain tumor and the tumor-adjacent normal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126910.RAeWEr8m7qP3yMwmPipZCRtoFlkZu_37TSnNxlKJxY4F4130_provenance.
- NP126911.RAWx3dx5y_7kZ9jjw1FUX59ueA-RDOXRw98pWhDBWawnc130_assertion description "[An Arg234Gln missense PTEN mutation from a patient with multiple brain tumors can't induce apoptosis and leads to high PKB/Akt activation & cell proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126911.RAWx3dx5y_7kZ9jjw1FUX59ueA-RDOXRw98pWhDBWawnc130_provenance.
- NP126914.RAXjjMGzw9nlB7dcej_uR8yTULYtq2g2g0O19mSxkR8io130_assertion description "[Increased PIAS3 expression is associated with human cancers including lung, breast, prostate, colon-rectum, and brain tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126914.RAXjjMGzw9nlB7dcej_uR8yTULYtq2g2g0O19mSxkR8io130_provenance.
- NP126915.RAaoQJdutqvGSMJXvmu6-Lezb3Lick2fDLKGtWc9Yl7Fo130_assertion description "[Brain tumor invasiveness in degrees from respect of the arachnoid membrane progressing to frank brain invasion correlated with increases in IGF-II and IGFBP-6 expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126915.RAaoQJdutqvGSMJXvmu6-Lezb3Lick2fDLKGtWc9Yl7Fo130_provenance.
- NP126917.RAdGvSGpXZ6gDhzA5fB3ledPcuAoQ4YxqaUjPz12HL9mk130_assertion description "[NDRG1 represents an additional diagnostic marker for brain tumor detection ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126917.RAdGvSGpXZ6gDhzA5fB3ledPcuAoQ4YxqaUjPz12HL9mk130_provenance.
- NP126922.RAWtskSDpW1tUJ_F3bqHAyQIxH3ks4yamV0dliHUTqKGQ130_assertion description "[No significant difference in ADAMTS-13 activity between the age- and sex-matched patients with benign and malignant brain tumors nor between the age matched patients with prostatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126922.RAWtskSDpW1tUJ_F3bqHAyQIxH3ks4yamV0dliHUTqKGQ130_provenance.
- NP126934.RARJAvRmJQSdqxBzyp131wnVx_jT3z7bbZktsXgoxv6DI130_assertion description "[L1CAM is required for maintaining the growth and survival of CD133 (+) glioma cells both in vitro and in vivo, and L1CAM may represent a cancer stem cell-specific therapeutic target for improving the treatment of malignant gliomas and other brain tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126934.RARJAvRmJQSdqxBzyp131wnVx_jT3z7bbZktsXgoxv6DI130_provenance.
- NP126935.RAbFGCP1yiblMvPkPYW2VZ4HpV8aWkZdDndSTnVpqVb9c130_assertion description "[in most primary brain tumors, AKT is activated by molecular mechanisms other than oncogenic G49A mutations of AKT1 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126935.RAbFGCP1yiblMvPkPYW2VZ4HpV8aWkZdDndSTnVpqVb9c130_provenance.
- NP126938.RAa_oecfhIJK4GtBzEXFFzCXqRtSdNkd-C31PxZwISb2k130_assertion description "[HIF-1alpha is elevated in both TM and GBM, suggesting that although hypoxia is one of the most powerful stimuli for HIF-1alpha elevation and consequently angiogenesis, other mechanisms may cause HIF-1alpha increase in brain tumors such as TM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126938.RAa_oecfhIJK4GtBzEXFFzCXqRtSdNkd-C31PxZwISb2k130_provenance.
- NP126942.RAQ2ichgphTwZoqha_KFa6qim_TRSDtJIdtsOBm-Nkr1E130_assertion description "[The concept that CD133 is a marker of brain tumor stem cells may need to be revised.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126942.RAQ2ichgphTwZoqha_KFa6qim_TRSDtJIdtsOBm-Nkr1E130_provenance.
- NP126944.RAdbWGhlVd6SQB-lm-KMzme8H010U_5MZJ3_zbyLbrO10130_assertion description "[Loss of TRF1 expression capability, as a result of down-regulation of TRF1 expression in malignant gliomas cells, may play a role in the malignant progression of astroglial brain tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126944.RAdbWGhlVd6SQB-lm-KMzme8H010U_5MZJ3_zbyLbrO10130_provenance.
- NP126950.RAcUObws-go33KwZBBLTHnxvo7ZEAus5AQc55oLYqtf9k130_assertion description "[Loss of CHK expression is associated with human brain tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126950.RAcUObws-go33KwZBBLTHnxvo7ZEAus5AQc55oLYqtf9k130_provenance.
- NP126951.RATIm_GJnKxMWvrmX3uBsU8GhBiKhiuFF92QY14tY4dT4130_assertion description "[The pattern of serum NCAM bands could be useful to detect brain tumor pathology/immunostaining of tumors was inversely correlated with the histological grade of malignancy/of NCAM staining was significantly associated with poor prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126951.RATIm_GJnKxMWvrmX3uBsU8GhBiKhiuFF92QY14tY4dT4130_provenance.
- NP126963.RAYVNEffF2Qj_wHP-giJFdq0GJrYO4lONBSv368UiHLlI130_assertion description "[TDAG51 in patients with intractable epilepsy was significantly higher when compared with levels in the controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126963.RAYVNEffF2Qj_wHP-giJFdq0GJrYO4lONBSv368UiHLlI130_provenance.
- NP126967.RARUTUYOmL6S4RBYCEHz5GngZCTKt6tB_jiqSMMkUbQE0130_assertion description "[We describe a case of epileptic seizures secondary to myasthenia gravis caused by autoantibodies to the MUSK receptor/autoantibodies affected the brain as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126967.RARUTUYOmL6S4RBYCEHz5GngZCTKt6tB_jiqSMMkUbQE0130_provenance.
- NP126984.RASQwomLGuB3GyTBRjWk5pspqiJ_qA_zGF3uW74LPC-NM130_assertion description "[Elevated expression of laminin beta1 mRNA and protein in the hippocampus suggests that laminin beta1 may play a role in the development of epileptic seizures in patients with intractable epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126984.RASQwomLGuB3GyTBRjWk5pspqiJ_qA_zGF3uW74LPC-NM130_provenance.
- NP126987.RAbxp1G4iM0fOnfoRQmud5AMk9e6c32_0Be320ALx68MA130_assertion description "[Patients with drug-resistant epilepsy were more likely to have the TT genotype compared with those with drug-responsive epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126987.RAbxp1G4iM0fOnfoRQmud5AMk9e6c32_0Be320ALx68MA130_provenance.
- NP126997.RAUuXY6ipZGOQ8VSlIjmFN7Yh9LHDbnWaKZavTOlskctk130_assertion description "[Mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126997.RAUuXY6ipZGOQ8VSlIjmFN7Yh9LHDbnWaKZavTOlskctk130_provenance.
- NP127002.RAfwb94Mm__Q8sJSFH3GSRyO0AvfByZD1PA7_IY2AynP0130_assertion description "[This study indicated ADAM22 gene is probably not a major gene for this epilepsy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127002.RAfwb94Mm__Q8sJSFH3GSRyO0AvfByZD1PA7_IY2AynP0130_provenance.
- NP127006.RAVNRDxBq0Z-xwOUFoIcQLYcL3hrsmepIAyVdZI88Bnec130_assertion description "[Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and subcortical band heterotopia (SBH) in boys.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127006.RAVNRDxBq0Z-xwOUFoIcQLYcL3hrsmepIAyVdZI88Bnec130_provenance.
- NP127009.RAcidpZrMEIv_ULWFuPLVmugklYpBmysbGs8RAoiIxtLQ130_assertion description "[The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman/authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset and death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127009.RAcidpZrMEIv_ULWFuPLVmugklYpBmysbGs8RAoiIxtLQ130_provenance.
- NP127011.RAfBUIHI3qIujOYcka14J_AqoiUx46BIKXvj9WKWAXWA8130_assertion description "[6-year-old boy carrying a novel missense 964C > T mutation on the MECP2 gene/patient shows moderate mental retardation with autistic features and epilepsy/mother is heterozygous for the same mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127011.RAfBUIHI3qIujOYcka14J_AqoiUx46BIKXvj9WKWAXWA8130_provenance.
- NP127013.RAbiBuQc4jubXmo3jjVolDkpUta85lsA6epVn9LPe-Vek130_assertion description "[Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127013.RAbiBuQc4jubXmo3jjVolDkpUta85lsA6epVn9LPe-Vek130_provenance.
- NP127015.RAZhqAKwHGAaVKpaGSe1C_m-dAGNQqhUAOVNM5V6V2EOA130_assertion description "[We show high expression of AQP1 water channels in intractable epilepsy and suggest two mechanisms to explain this finding/AQP1 expression of astrocytes may be a cause or a consequence of IE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127015.RAZhqAKwHGAaVKpaGSe1C_m-dAGNQqhUAOVNM5V6V2EOA130_provenance.
- NP127017.RAfeH_7yZfX5z1mxP1qi-pWFBx017o2ztFsV5jQdS9yTA130_assertion description "[Nav1.1 plays a critical role in the spike output from parvalbumin-positive interneurons and contributes to epileptic seizures in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127017.RAfeH_7yZfX5z1mxP1qi-pWFBx017o2ztFsV5jQdS9yTA130_provenance.
- NP127024.RAWnYkhFDDeUxgYStW4gYXR1RzUpp6RONBainDONtNwnU130_assertion description "[a rare polymorphism at codon 171 (Asn-- > Ser) of human Prnp is associated with symptomatic epilepsies related to different forms of malformations of cortical development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127024.RAWnYkhFDDeUxgYStW4gYXR1RzUpp6RONBainDONtNwnU130_provenance.
- NP127026.RAWPcE2S8bD_5BQn0XUmVBQqhyo_1wpyln0-eE4gwLG5o130_assertion description "[Mutation in the HPRT1 allele at the DNA and RNA levels in Lesch-Nyhan disease blastocyst.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127026.RAWPcE2S8bD_5BQn0XUmVBQqhyo_1wpyln0-eE4gwLG5o130_provenance.
- NP127033.RAYwgY25nn-cXfZW_FOe5KcVRaPhxldjdSwUbPeGOMr5Q130_assertion description "[The spectrum of neurologic manifestations and neoplasms associated with voltage-gated potassium channel (VGKC) autoimmunity is broader than previously recognized ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127033.RAYwgY25nn-cXfZW_FOe5KcVRaPhxldjdSwUbPeGOMr5Q130_provenance.
- NP127045.RATVPqzBNNkIMFTQSUdQ6f1mpjfEVezSOVMwojoHeVgoA130_assertion description "[A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127045.RATVPqzBNNkIMFTQSUdQ6f1mpjfEVezSOVMwojoHeVgoA130_provenance.
- NP127046.RAYmGq_c27YRX_2EsbzW1Kg6UEZUhN4H5r0mcbKZ54orI130_assertion description "[a mutation in UMOD gene may lead to familial nephropathy associated with hyperuricemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127046.RAYmGq_c27YRX_2EsbzW1Kg6UEZUhN4H5r0mcbKZ54orI130_provenance.
- NP127053.RAWFlN8ocvwaxt6pIhyVBfJSx8siJSCQkOQHopKyZanM0130_assertion description "[tyrosinase overexpression promotes an ataxia telangiectasia mutated-dependent p53 phosphorylation by quercetin treatment and sensitizes melanoma cells to dacarbazine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127053.RAWFlN8ocvwaxt6pIhyVBfJSx8siJSCQkOQHopKyZanM0130_provenance.
- NP127064.RAQeOg98rBPLbCdZHEFMeAD_xZr1KHdq4Ngz797RdFheQ130_assertion description "[The response of DNA damage sensor ataxia-telangiectasia mutated (ATM) protein toward the DNA topological change in vivo, was investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127064.RAQeOg98rBPLbCdZHEFMeAD_xZr1KHdq4Ngz797RdFheQ130_provenance.
- NP127066.RAUshVSk6ucP_awiGDl5xMDWf7U3UA_NKhzpK8tuwLCuY130_assertion description "[mitochondrial homeostasis contributes to the complex pathology of Ataxia-telangiectasia and that ribonucleotide reductase genes are candidate disease loci in mitochondrial DNA-depletion syndromes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127066.RAUshVSk6ucP_awiGDl5xMDWf7U3UA_NKhzpK8tuwLCuY130_provenance.
- NP127067.RAUEvwhx5C_hSsz4pqgcLCT2_3VoQyRgKAGR5dSDKre0o130_assertion description "[Epidemiological and molecular studies have provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles/REVIEW]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127067.RAUEvwhx5C_hSsz4pqgcLCT2_3VoQyRgKAGR5dSDKre0o130_provenance.
- NP127068.RAZdc9tgu9UJH0UPK6zyfKVRcEvxYZcU_qGugLyG1FpvE130_assertion description "[ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127068.RAZdc9tgu9UJH0UPK6zyfKVRcEvxYZcU_qGugLyG1FpvE130_provenance.
- NP127069.RAVop6QRCFBkSn_iI1R9EsceWuDuT8FJuX0gRDBC-uMqQ130_assertion description "[ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127069.RAVop6QRCFBkSn_iI1R9EsceWuDuT8FJuX0gRDBC-uMqQ130_provenance.
- NP127070.RAZqvU7YvDI6DrV8lhyPRzvWBPbqX-tBH5WStHHtBTzHg130_assertion description "[Ataxia telangiectasia (A-T) patients from 16 Russian families were assessed for immunological status and ATM haplotype analysis, and screened for ATM mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127070.RAZqvU7YvDI6DrV8lhyPRzvWBPbqX-tBH5WStHHtBTzHg130_provenance.
- NP127072.RAXmqHJbHJmVnW3AQVMEa_-83BtHQ4ZaOG1PfvFSv0CTY130_assertion description "[ATM gene founder haplotypes and associated mutations are found in ataxia-telangiectasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127072.RAXmqHJbHJmVnW3AQVMEa_-83BtHQ4ZaOG1PfvFSv0CTY130_provenance.
- NP127073.RATHlySx9kntgc2nv1onZDlTt-rMVjxNwQNagoyvD9inM130_assertion description "[Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127073.RATHlySx9kntgc2nv1onZDlTt-rMVjxNwQNagoyvD9inM130_provenance.
- NP127077.RAZ4-w12qJUllqi7miYBMqavXOIyp9xbmTo_iobrEFgw4130_assertion description "[ataxia telangiectasia patients with no ATM kinase activity had a markedly more severe immunological phenotype than those expressing low levels of ATM activity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127077.RAZ4-w12qJUllqi7miYBMqavXOIyp9xbmTo_iobrEFgw4130_provenance.
- NP127079.RAdoBf1DpaW6ZTkh1z79OvhJjTInuBRzeJFT4pJdfKnrg130_assertion description "[Ataxia telangiectasia mutated proteins, MAPKs, and RSK2 are involved in the phosphorylation of this protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127079.RAdoBf1DpaW6ZTkh1z79OvhJjTInuBRzeJFT4pJdfKnrg130_provenance.
- NP127082.RAVi8T4ZSdyUxwwWYaoRsygpSxBCDT8h86w9iR0jXjcMo130_assertion description "[AKT is activated in an ataxia telangiectasia and Rad3-related-dependent manner in response to temozolomide and confers protection against drug-induced cell growth inhibition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127082.RAVi8T4ZSdyUxwwWYaoRsygpSxBCDT8h86w9iR0jXjcMo130_provenance.
- NP127083.RAXYIGwMkIpR-l1jDXfkLLDdcjyTqdvET2l5_S-Q1Xt_Y130_assertion description "[This protein is mutated in ataxia telangiectasia and is involved in the phoshphorylation of STAT3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127083.RAXYIGwMkIpR-l1jDXfkLLDdcjyTqdvET2l5_S-Q1Xt_Y130_provenance.
- NP127085.RAVvezUFqd6veJ75udg9TOCioW1jLuDDVkZM6b-d5vC8s130_assertion description "[Hyperuricemia and young-onset gout are consistent features of the phenotype associated with HNF-1beta mutations, but the mechanism is uncertain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127085.RAVvezUFqd6veJ75udg9TOCioW1jLuDDVkZM6b-d5vC8s130_provenance.
- NP127091.RAan1mmebTuiDxltHb4Y0H50xV3x8gIPBSZLZFD5E_-VU130_assertion description "[K-RasG12D-induced T-cell lymphoblastic lymphoma/leukemias harbor Notch1 mutations ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127091.RAan1mmebTuiDxltHb4Y0H50xV3x8gIPBSZLZFD5E_-VU130_provenance.
- NP127095.RAU2N1kYpISssdAmzkyCbvs0BbTEjErrU1ujq_PqycIoM130_assertion description "[Temporal gene expression profile of precursor B leukemia cells induced by ITGB1 identifies pathways regulating B-cell survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127095.RAU2N1kYpISssdAmzkyCbvs0BbTEjErrU1ujq_PqycIoM130_provenance.
- NP127103.RARGaQeWvCptOBr424cYxAwxx9gXdsLdfqE4KGGjOzyqM130_assertion description "[The megakaryoblastic leukemia cell line CMK, from a Down's syndromept, expressed granulysin mRNA, suggesting that GNLY is occasionally present in immature multilineage cells or may be characteristic of leukemic cells obtained from Down's syndrome pts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127103.RARGaQeWvCptOBr424cYxAwxx9gXdsLdfqE4KGGjOzyqM130_provenance.
- NP127106.RASKw2CQYBxPubh725eqcWxD-lRY7vxPG4zd4OMZnqkAY130_assertion description "[RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127106.RASKw2CQYBxPubh725eqcWxD-lRY7vxPG4zd4OMZnqkAY130_provenance.
- NP127107.RAb1g4Q4BhrmWG0OFa5Hd8virMpO0OdLEkn8tRiHWM_o4130_assertion description "[ETV6/RUNX1-positive acute lymphoblastic leukemias have a high incidence of cryptic Xq duplications ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127107.RAb1g4Q4BhrmWG0OFa5Hd8virMpO0OdLEkn8tRiHWM_o4130_provenance.
- NP127110.RAWu8tI-U0gKgz1nDS3zgaNbHN3lyPEoey3OLwUOP8lKc130_assertion description "[aml 1 gene chromosome translocation involves leukemia etiology ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127110.RAWu8tI-U0gKgz1nDS3zgaNbHN3lyPEoey3OLwUOP8lKc130_provenance.
- NP127113.RASu2jPpocXCQYkfkb6atUS2eavl-VgUf9xB_f4Rl69Xo130_assertion description "[Inhibition of RALBP1 by polyclonal antibodies causes increased drug-accumulation and increased cytotoxicity which demonstrate the potential utility of targeting RALBP1 in the treatment of leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127113.RASu2jPpocXCQYkfkb6atUS2eavl-VgUf9xB_f4Rl69Xo130_provenance.
- NP127118.RAfgTrYC2eL4wzVrgyN4IGy-f8RkPdnequL2E8flXwBIs130_assertion description "[thalidomide could suppress leukemia cell invasion and migration by upregulation of Egr-1 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127118.RAfgTrYC2eL4wzVrgyN4IGy-f8RkPdnequL2E8flXwBIs130_provenance.
- NP127121.RAZeRhmzcVjq_3jX9VZ7b2PuWxTNHMjoX9G4aysWyonTo130_assertion description "[Targeted-E2A-PBX1 inhibition leads to reduced expression of the EB-1 and Wnt16b genes; aberrant expression of these genes may be a key step in leukemogenesis in t (1; 19) -positive pre-B leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127121.RAZeRhmzcVjq_3jX9VZ7b2PuWxTNHMjoX9G4aysWyonTo130_provenance.
- NP127125.RAVvVXVOTp3K82r3nwvfnskaubT1WypsEu2EIq_RS-eD4130_assertion description "[The results show an association between MPO-463 and adult acute leukemia indicating a protective effect against leukemia in individuals carrying MPO-463 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127125.RAVvVXVOTp3K82r3nwvfnskaubT1WypsEu2EIq_RS-eD4130_provenance.
- NP127129.RAdjOghgRf-pOT-UdSg_f0Ek5CuLVVumEuB2Opf1U2k5M130_assertion description "[evidence of a functional interaction between the promyelocytic leukemia zinc finger protein (PLZF) and DRAL/FHL2 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127129.RAdjOghgRf-pOT-UdSg_f0Ek5CuLVVumEuB2Opf1U2k5M130_provenance.
- NP127131.RASycE5zMESJQ_bH_26PhrT8Y8-bnrZ3dS5B_r8wbKXvQ130_assertion description "[Cell-surface MMP-9 regulates the invasive capacity of leukemia blast cells with monocytic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127131.RASycE5zMESJQ_bH_26PhrT8Y8-bnrZ3dS5B_r8wbKXvQ130_provenance.
- NP127133.RAUJTBVC1eyaKFE2ahs5Fapev8Ztp35MDimxhkHSyD8H0130_assertion description "[Dimethylsulfoxide induced upregulation of PTEN in HL-60 leukemia cells is blocked by an inibior of NF-kappa-b.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127133.RAUJTBVC1eyaKFE2ahs5Fapev8Ztp35MDimxhkHSyD8H0130_provenance.