Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP150979.RAVP3PvD0Sht3onhU2onM8-6CMs1San1bp2nheyWNBrKU130_assertion description "[Mutant SRD5A1 isoenzyme does not seem to play a crucial role in the development of hypospadias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150979.RAVP3PvD0Sht3onhU2onM8-6CMs1San1bp2nheyWNBrKU130_provenance.
- NP150980.RAVmsz-Ev8FkVFf0KdujSIHJuA_VqixNff6m3CH2Vg58A130_assertion description "[findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150980.RAVmsz-Ev8FkVFf0KdujSIHJuA_VqixNff6m3CH2Vg58A130_provenance.
- NP150982.RAXWl7Yt4GB5LfdAKO-4wRKGutCb5rNWUD1aVIObnTiJA130_assertion description "[Subtle molecular abnormalities in HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias/finding is uncommon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150982.RAXWl7Yt4GB5LfdAKO-4wRKGutCb5rNWUD1aVIObnTiJA130_provenance.
- NP150983.RAYUS7CEnH4FTtMPwvF-GiIYS_0qib5Q-zOlDBnzkydq8130_assertion description "[association between GGN length and the risk of cryptorchidism and penile hypospadias ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150983.RAYUS7CEnH4FTtMPwvF-GiIYS_0qib5Q-zOlDBnzkydq8130_provenance.
- NP150990.RAeSYXRIj-CKIES2jkfVt96E1esQbOZAOXAt_fo9_dw_k130_assertion description "[ATF3 gene variants influence the risk of hypospadias ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150990.RAeSYXRIj-CKIES2jkfVt96E1esQbOZAOXAt_fo9_dw_k130_provenance.
- NP150991.RAd8Jm8S36Zm6MDXOMMKLabf7_wB9IwmBnfeAd1EQxfaE130_assertion description "[review article of gene expression of inhibin beta A in normal breast carcinoma, fibroadenoma, and normal mammary tissue ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150991.RAd8Jm8S36Zm6MDXOMMKLabf7_wB9IwmBnfeAd1EQxfaE130_provenance.
- NP150997.RAf2dOg4KyTxXrwgtqGUvIa-DBOA38ZGLZdI3rzs_6VxU130_assertion description "[expression of ESRA, bcl-2 and c-myc gene expression in fibroadenomas and adjacent normal breast is related to nodule size, hormonal and reproductive features ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150997.RAf2dOg4KyTxXrwgtqGUvIa-DBOA38ZGLZdI3rzs_6VxU130_provenance.
- NP150998.RATmeIsY0_tIV0ztXYkBj_liyQfo3aanwb1hY70301nK8130_assertion description "[HER-2 polymorphism, especially in a homozygous form might play some role in the etiology of breast fibroadenoma formation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150998.RATmeIsY0_tIV0ztXYkBj_liyQfo3aanwb1hY70301nK8130_provenance.
- NP151001.RAYWzV0s5gHYm8UnK0RsSmyUsqmnxTD_sZakaZxC7EYU4130_assertion description "[significant linkage disequilibrium (LD) indicated by preferential maternal transmission of the GluR7 S310 allele to recurrent major depressive disorder patients (P = 0.012), but not to bipolar I disorder (BPI) patients (P = 1.00) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151001.RAYWzV0s5gHYm8UnK0RsSmyUsqmnxTD_sZakaZxC7EYU4130_provenance.
- NP151005.RAe-vPdHn8ATQlmEXtwb5oClatAw1rcAUO_d9eHYu4h3s130_assertion description "[Case-control study of the possible relationship between the NQO1 gene polymorphism and mood disorders (patients with major depressive disorder, patients with bipolar I disorder, controls was carried out using PCR-based techniques.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151005.RAe-vPdHn8ATQlmEXtwb5oClatAw1rcAUO_d9eHYu4h3s130_provenance.
- NP151006.RAS13fW79PlSeW0sjgKb4pmr1cNuvasCMD3c9NFIY_nLA130_assertion description "[Variations in the GMIP gene can confer susceptibility to major depressive disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151006.RAS13fW79PlSeW0sjgKb4pmr1cNuvasCMD3c9NFIY_nLA130_provenance.
- NP151007.RAXwadtO7Yrv6QEB_v9KHwQUJC2aHc106qFcfCcLlYbE0130_assertion description "[The GG genotype is overrepresented in major depressive disorder, and binding potential appears higher with the G allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151007.RAXwadtO7Yrv6QEB_v9KHwQUJC2aHc106qFcfCcLlYbE0130_provenance.
- NP151013.RAQviecrC6Qy87IV00SDGIJzRLmo9QMEbct9RdWtdYyXs130_assertion description "[Subgroup of women with vulvar vestibulitis syndrome who exhibit abnormal estrogen receptor-alpha expression/be helpful in explaining why some women are resistant to medical treatment ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151013.RAQviecrC6Qy87IV00SDGIJzRLmo9QMEbct9RdWtdYyXs130_provenance.
- NP151015.RAbjP7faGJtZNiAS66HJVbjNbbFo8jItSN-P15RvaWUmE130_assertion description "[IL10 promoter polymorphism seems to be associated with susceptibility of herpes zoster in Korea ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151015.RAbjP7faGJtZNiAS66HJVbjNbbFo8jItSN-P15RvaWUmE130_provenance.
- NP151026.RAa212yCF6tEz9gUEIStgtrBwYHLvQAZnuIooSjc3EU7s130_assertion description "[mutational spectrum of 22 unrelated Czech patients with neurofibromatosis type 1; study found NF1 mutations in 17 patients; twelve of the mutations were newly found ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151026.RAa212yCF6tEz9gUEIStgtrBwYHLvQAZnuIooSjc3EU7s130_provenance.
- NP151035.RAc4UyyLA1rL2rP6_QTPg9BvRIhWP4cO0z6SIx-KCYhMg130_assertion description "[preliminary crystallographic characterization of a novel segment (homologous to the yeast Sec14p lipid exchange protein) from the neurofibromatosis type 1 protein ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151035.RAc4UyyLA1rL2rP6_QTPg9BvRIhWP4cO0z6SIx-KCYhMg130_provenance.
- NP151036.RAZHBuX3csgEJW6XF3FPHgKa42swKmyg9vOH3bGNzXFmg130_assertion description "[Mosaicism in NF1 associated with neurofibromatosis type 1 is discussed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151036.RAZHBuX3csgEJW6XF3FPHgKa42swKmyg9vOH3bGNzXFmg130_provenance.
- NP151044.RAev6_ZQhZWB42Jxh8VPqHMHFAB7O9IiVNR_faLjmaUdg130_assertion description "[Neuron-specific enolase is a relevant marker in investigation of the patients with neurofibromatosis type 1 and associated tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151044.RAev6_ZQhZWB42Jxh8VPqHMHFAB7O9IiVNR_faLjmaUdg130_provenance.
- NP151045.RAQHkw17W0Z41eqjHqIHkGTYToLW4fwExJVuxapsz5ZZU130_assertion description "[The human gene for centaurin alpha 2 is located on chromosome 17, position 17q11.2, near the neurofibromatosis 1 (NF1) locus and concentrated at the plasma membrane.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151045.RAQHkw17W0Z41eqjHqIHkGTYToLW4fwExJVuxapsz5ZZU130_provenance.
- NP151047.RAc8s9gMlVycenmGUUxDVZn2siQQPGxp1QWHzr10m0rMo130_assertion description "[Some PTPN11 mutations (e.g., Y279C) are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or cafe au lait spots (LEOPARD syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151047.RAc8s9gMlVycenmGUUxDVZn2siQQPGxp1QWHzr10m0rMo130_provenance.
- NP151052.RAYux69_t30iPoJnVlqkyX5IENHb_AaBSOos3J2n3odxA130_assertion description "[understanding of Noonan syndrome and the LEOPARD syndrome pathogenesis will require solving the paradox that mutations oppositely influencing the biochemical activity of SHP-2 result in similar syndromes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151052.RAYux69_t30iPoJnVlqkyX5IENHb_AaBSOos3J2n3odxA130_provenance.
- NP151053.RAf5RGgE2ilCG5BuKzW0QPlSSMIEQrSNJ0IJRmnQX1PkI130_assertion description "[The finding that defective Shp2 signaling induced cell movement defects as early as gastrulation may have implications for the monitoring and diagnosis of Noonan and LEOPARD syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151053.RAf5RGgE2ilCG5BuKzW0QPlSSMIEQrSNJ0IJRmnQX1PkI130_provenance.
- NP151057.RAaFn0MBhAKLVCBOldSZKsFdCSrtAV55ICVPyOxpgyvUk130_assertion description "[IGF-1 receptor signaling alterations could explain thyroid-associated ophthalmopathy [review]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151057.RAaFn0MBhAKLVCBOldSZKsFdCSrtAV55ICVPyOxpgyvUk130_provenance.
- NP151065.RAdK6-ftBgm3w2T_5njc1lW6vMWcca_FPPsQ1NnqQ7FqQ130_assertion description "[The association between chronic fatigue syndrome and the frequency of rs763780, a C/T genetic polymorphism leading to His161Arg substitution in the IL-17F protein was studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151065.RAdK6-ftBgm3w2T_5njc1lW6vMWcca_FPPsQ1NnqQ7FqQ130_provenance.
- NP151075.RAXh9UPjTlFdYrgeVWlyClSsH31c2EWYIpDxb_-QOuvAM130_assertion description "[In cases where prednisolone acetate was administered, we found a significant correlation between N363S heterozygosity and steroid-induced ocular hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151075.RAXh9UPjTlFdYrgeVWlyClSsH31c2EWYIpDxb_-QOuvAM130_provenance.
- NP151080.RARFqXL-AR_c0pmUlQMVEB8vaiXxbWYjPQnEv2Py7qDNM130_assertion description "[FGFR3 and PIK3CA germline mutations can be excluded as an underlying genetic basis, therefore alternative mechanisms have to contribute to familial Seborrheic Keratoses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151080.RARFqXL-AR_c0pmUlQMVEB8vaiXxbWYjPQnEv2Py7qDNM130_provenance.
- NP151083.RAeN8-vlpLymnVb87b7G55UbVu-hFE33R3c-eYdm_gqZ8130_assertion description "[Bcl-2-positive dendritic cells in epidermis of inverted follicular keratoses/bcl-2 staining was significantly higher in seborrheic keratoses (SKs)/may be increased in SKs as anti-apoptotic mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151083.RAeN8-vlpLymnVb87b7G55UbVu-hFE33R3c-eYdm_gqZ8130_provenance.
- NP151086.RAYB8a25YKKz7Og4UQtt0YwwTOUjuSCTWoOuR51Fvm0tU130_assertion description "[The p53 genotype distribution was markedly different between the ovarian mucinous cystadenocarcinomas and serous papillary cystadenocarcinomas with respect to homozygosity of both Arg and Pro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151086.RAYB8a25YKKz7Og4UQtt0YwwTOUjuSCTWoOuR51Fvm0tU130_provenance.
- NP151094.RAWC48V3jXb9D5aV6-3og4I-r7dBikLBK3qSipRiOYlmY130_assertion description "[Immunohistochemical localization of Oct4 in stem cell compartments of human sacrococcygeal teratomas ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151094.RAWC48V3jXb9D5aV6-3og4I-r7dBikLBK3qSipRiOYlmY130_provenance.
- NP151096.RAdLrsaUcgFPvglc47qEOrSyaZmRHNxfTj3gmZn7gkMQY130_assertion description "[None of the SDC4 polymorphisms showed a difference in their allelic distribution between leg ulcer patients and controls/may play a role in wound healing, but expression abnormalities in uninvolved dermis may contribute to venous ulcer development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151096.RAdLrsaUcgFPvglc47qEOrSyaZmRHNxfTj3gmZn7gkMQY130_provenance.
- NP151101.RAfmKayZx3hxsKGOZrTjSWr0zYdkdcM4pKTw2PeZMKSIA130_assertion description "[Immunohistochemistry using antibodies to determine the protein expression of Fas, Fas-L, Bax, Bcl-2, p53 and c-Myc in skin of venous ulcer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151101.RAfmKayZx3hxsKGOZrTjSWr0zYdkdcM4pKTw2PeZMKSIA130_provenance.
- NP151116.RASuUTDMuUnh8LLyN3lxDbRoyNCUliRNFaZV0r55BqWcY130_assertion description "[report of a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151116.RASuUTDMuUnh8LLyN3lxDbRoyNCUliRNFaZV0r55BqWcY130_provenance.
- NP151117.RAd-3E-4_-yE7xyUqVisjQSouvC3d-upJ23Yb6NswyHgI130_assertion description "[Sometimes expressed in dysmorphic neurons in focal cortical dysplasia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151117.RAd-3E-4_-yE7xyUqVisjQSouvC3d-upJ23Yb6NswyHgI130_provenance.
- NP151118.RAZf_2vX8EbCJhvhzoe3luM0ndeu6fAqoIzHx6yfg6a0Q130_assertion description "[Expressed in most dysmorphic neurons in focal cortical dysplasia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151118.RAZf_2vX8EbCJhvhzoe3luM0ndeu6fAqoIzHx6yfg6a0Q130_provenance.
- NP151119.RAWuxuT-in7knZrcwJNsMArsh6RLmsEWirJvwZKuH6VrM130_assertion description "[Expressed in most dysmorphic neurons in focal cortical dysplasia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151119.RAWuxuT-in7knZrcwJNsMArsh6RLmsEWirJvwZKuH6VrM130_provenance.
- NP151121.RAWo_MOQtIB2odZzB5rs0XgduJMI1LhY6C31HFX2-lmsw130_assertion description "[Increased expression of PSD-25 and its coassembly with NMDA-receptor subunits NR1 and MR2B in resected epileptic cortical tissue suggest a possible functional role of the complex in in situ epileptogenicity of focal cortical dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151121.RAWo_MOQtIB2odZzB5rs0XgduJMI1LhY6C31HFX2-lmsw130_provenance.
- NP151123.RAQhJXWT2_UQBKvMZYNtiCkZnjj9v8pTBmRpaDnDRdXD0130_assertion description "[Increased coassembly of NR1 and NR2B with PSD-95 may underlie one of the cellular mechanisms that contributes to in situ increased hyperexcitability, leading to seizure generation in focal cortical dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151123.RAQhJXWT2_UQBKvMZYNtiCkZnjj9v8pTBmRpaDnDRdXD0130_provenance.
- NP151124.RAaBip_zKVnS0rVpGzYI7wDP7_8I1JITmsD6ZzwLRx0PE130_assertion description "[loss of tuberin in balloon cells of both cortical dysplasia type IIB in tuberous sclerosis complex (TSC) -related and sporadic patients suggests that Focal cortical dysplasia type IIB may represent the focal form of TSC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151124.RAaBip_zKVnS0rVpGzYI7wDP7_8I1JITmsD6ZzwLRx0PE130_provenance.
- NP151127.RAQbm1siP_QmNG3H2NQaZR2L0s474Bvce786SEAfSvw6o130_assertion description "[study showed that the A allele at position -607 in the IL-18 promoter region may be associated with the development of adult onset Still's disease, especially in the monocyclic systemic subgroup ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151127.RAQbm1siP_QmNG3H2NQaZR2L0s474Bvce786SEAfSvw6o130_provenance.
- NP151131.RAQkZjNQWXfeRZUBSqZr9y6iHMe5E887wuMDLBDdbggns130_assertion description "[sFas, sFas-L, and MMP-3, which were significantly elevated in sera of active untreated adult-onset Still's disease patients and paralleled disease activity, may be involved in the pathogenesis of this disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151131.RAQkZjNQWXfeRZUBSqZr9y6iHMe5E887wuMDLBDdbggns130_provenance.
- NP151151.RAe1kh_zs7ZpGxSLcZlMJFC45qouDrt1QqezVTzZufMaM130_assertion description "[nuclear apoptosis repressor with caspase recruitment domain (ARC) is induced in cancer cells and negatively regulates p53 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151151.RAe1kh_zs7ZpGxSLcZlMJFC45qouDrt1QqezVTzZufMaM130_provenance.
- NP151156.RAYe3K_wwFy69_nLhquA3DKvoQdwGnoD0jkUZRFPFs6D8130_assertion description "[Stage B immunoproliferative small intestinal disease (IPSID) showed higher expression for bcl6 and p53 than stage A IPSID/and p53 expressions correlated with a more advanced disease stage and aggressive tumour behavior.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151156.RAYe3K_wwFy69_nLhquA3DKvoQdwGnoD0jkUZRFPFs6D8130_provenance.
- NP151160.RAdfjgLkzBfDTBfpEHP5LjqTJHypYQ2jzGEUE1YMOL72Q130_assertion description "[The T-786C eNOS polymorphism and resultant reduction of nitric oxide production is associated with, and may contribute to, the pathogenesis of idiopathic osteonecrosis of the femoral head ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151160.RAdfjgLkzBfDTBfpEHP5LjqTJHypYQ2jzGEUE1YMOL72Q130_provenance.
- NP151162.RAbWhrhR4Ezu7ywXVGqpQeCbmLHzYdUtqSXKhtUHw5nKU130_assertion description "[Multifocal and unifocal osteonecrosis are similarly associated with thrombophilia, hypofibrinolysis, and the eNOS T-786C polymorphism ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151162.RAbWhrhR4Ezu7ywXVGqpQeCbmLHzYdUtqSXKhtUHw5nKU130_provenance.
- NP151171.RAapTMz9Tg6OdHuKhJ62HtnWfB_k1_7uFZgVqbC8sZzyg130_assertion description "[Polymorphism of the SREBF1 gene is associated with the risk of osteonecrosis of the femoral head in the Korean population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151171.RAapTMz9Tg6OdHuKhJ62HtnWfB_k1_7uFZgVqbC8sZzyg130_provenance.
- NP151177.RASDc_XieIY7Bx5uWPQ5vZussFsb_XgdrVpiZVwJs6VBA130_assertion description "[several single nucleotide polymorphisms in bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151177.RASDc_XieIY7Bx5uWPQ5vZussFsb_XgdrVpiZVwJs6VBA130_provenance.
- NP151187.RAY3vZHMCxoskxf61DTKRjxGfpFK_bSLZ7lsM00kM56Eo130_assertion description "[In gangliogliomas, western blot analysis showed a consistent increase in major vault protein expression compared with control cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151187.RAY3vZHMCxoskxf61DTKRjxGfpFK_bSLZ7lsM00kM56Eo130_provenance.
- NP151192.RAQKE291IctKwWZyN_8V40fo-At1dJOufK_z1Oh2Xv1V4130_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." NP151192.RAQKE291IctKwWZyN_8V40fo-At1dJOufK_z1Oh2Xv1V4130_provenance.
- NP151197.RAZI5I_UAPX5B7s4RFYeYdRBoFfCQ1nHcj8EpowjLisJc130_assertion description "[In the passive smoking group, women who have C/C6235 genotype, in CYP1A1 (cytochrome P450 family 1 subfamily A polypeptide 1) MspI and Ile/Ile462 genotype in CYP1A1 HincII was associated with an increased risk of dysmenorrhea ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151197.RAZI5I_UAPX5B7s4RFYeYdRBoFfCQ1nHcj8EpowjLisJc130_provenance.
- NP151213.RAfFoYWWpqyUwoGgOWgCMryDoQpnRo4tj2fa4CF63ZKvk130_assertion description "[distinguish between idiopathic hypereosinophilic syndromes/chronic eosinophilic leukemia and reactive hypereosinophilia based on WT1 transcript amount ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151213.RAfFoYWWpqyUwoGgOWgCMryDoQpnRo4tj2fa4CF63ZKvk130_provenance.
- NP151214.RAfQ3_tJMO1ogRBMKcHGF6ncANYocecqKk16ppq4HYZRg130_assertion description "[results suggest that in pulmonary alveolar proteinosis, GM-CSF synthesis is deficient and associated with negative regulation by IL-10; IL-10 gene expression is elevated in patients not responding to recombinant GM-CSF therapy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151214.RAfQ3_tJMO1ogRBMKcHGF6ncANYocecqKk16ppq4HYZRg130_provenance.
- NP151216.RARrtV65_yG5Ovwa2rXlUStg2gXBsuAoy-tSYa4rtjQCU130_assertion description "[Data describe a proteome analysis of surfactant proteins SP-A and SP-D in bronchoalveolar lavage fluid from patients with cystic fibrosis, chronic bronchitis and pulmonary alveolar proteinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151216.RARrtV65_yG5Ovwa2rXlUStg2gXBsuAoy-tSYa4rtjQCU130_provenance.
- NP151217.RARuEhYEktZjteckhe7vT5gmqoAEWgrTI3DPoDR3zKzXE130_assertion description "[In lung of patients with pulmonary alveolar proteinosis, SP-D was localized eoosinophilic large globules surrounded by an SP-A positive fine granular substance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151217.RARuEhYEktZjteckhe7vT5gmqoAEWgrTI3DPoDR3zKzXE130_provenance.
- NP151218.RAa8VOfks2lbq5DVYb7cjI_5aRJLQiNpG3gosB4INsIBg130_assertion description "[neutralizing anti-GM-CSF autoantibodies develop specifically in patients with idiopathic pulmonary alveolar proteinosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151218.RAa8VOfks2lbq5DVYb7cjI_5aRJLQiNpG3gosB4INsIBg130_provenance.
- NP151230.RAZJquZ155Kti20X76X2hboen8Rmi1-ahKEZvwrHD-KJs130_assertion description "[IL-6 and GM-CSF may be involved in the autoimmune mechanism of non-segmental vitiligo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151230.RAZJquZ155Kti20X76X2hboen8Rmi1-ahKEZvwrHD-KJs130_provenance.
- NP151231.RATWvkWacPSLuvoOnAcNOraN7Ve0BGh6k1tHOLgX9Zkb0130_assertion description "[gene expression profiling study of contribution of GM-CSF and IL-8 to the CD44-induced differentiation of acute monoblastic leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151231.RATWvkWacPSLuvoOnAcNOraN7Ve0BGh6k1tHOLgX9Zkb0130_provenance.
- NP151232.RAWU8mzflGN_nIh87SHbX2GqO01Bkv6codkYU4E8sUsqk130_assertion description "[It was proposed that a splice variant MLAA-34 of CAB39L associated with acute monocytic leukemia/was identified and characterized/and functional characterization of the novel acute monocytic leukemia associated antigen MLAA-34 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151232.RAWU8mzflGN_nIh87SHbX2GqO01Bkv6codkYU4E8sUsqk130_provenance.
- NP151236.RAfMYKjEVsEhBmHLZbgKN7p_UzWxixpYSVW6XtEcLxg_c130_assertion description "[It was proposed that a splice variant MLAA-34 of CAB39L associated with acute monocytic leukemia/was identified and characterized/and functional characterization of the novel acute monocytic leukemia associated antigen MLAA-34 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151236.RAfMYKjEVsEhBmHLZbgKN7p_UzWxixpYSVW6XtEcLxg_c130_provenance.
- NP151238.RAQ3dH3lFnKQbu3CiO0hODFPlMRQrGvYY0MnxCUwB8brI130_assertion description "[gene expression profiling study of contribution of GM-CSF and IL-8 to the CD44-induced differentiation of acute monoblastic leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151238.RAQ3dH3lFnKQbu3CiO0hODFPlMRQrGvYY0MnxCUwB8brI130_provenance.
- NP151241.RASs4CuITSWWcUUFWSuBHApndf5b-29dBllJB7sJu5BPA130_assertion description "[reduced expression of TFF1 and TFF2 in precancerous conditions and gastric cancer may be associated with the proliferation and malignant transformation of gastric mucosa ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151241.RASs4CuITSWWcUUFWSuBHApndf5b-29dBllJB7sJu5BPA130_provenance.
- NP151244.RAScKk2My8Y15e8x6PydmgLaHKxZXNJqRQ0mlqqB2teac130_assertion description "[These studies extend and complement previous studies on RCAN isoforms toward better understanding the role of RCAN1 in brain function and as a potential new target for treating calcineurin-related brain disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151244.RAScKk2My8Y15e8x6PydmgLaHKxZXNJqRQ0mlqqB2teac130_provenance.
- NP151246.RATFMkcq7ycbiRhAOHp4yBTzlGlhXcVuLRtLMcm_uAWBA130_assertion description "[Ooor dualistic views that consider S100B elevation as " bad " or " good " simplify clinical practice and delay our comprehension of the role of this protein, both in physiological conditions and in brain disorders/REVIEW]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151246.RATFMkcq7ycbiRhAOHp4yBTzlGlhXcVuLRtLMcm_uAWBA130_provenance.
- NP151248.RAeLgLh0KOSvrLCRDDI9c-6ByDU2xgL9PtyEWPZ_9yjTw130_assertion description "[preoperative S100B concentrations correlate inversely with the size of the ascending aorta in hypoplastic left heart syndrome and may serve as a marker for preexisting brain injury and mortality ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151248.RAeLgLh0KOSvrLCRDDI9c-6ByDU2xgL9PtyEWPZ_9yjTw130_provenance.
- NP151256.RAcSMMjYD9gdV8f3Vlglk0AJ2ZO70wgRr8FV7ju-4LWII130_assertion description "[Structure and function of this gene shows how mutation at this locus results in the spectrum of changes seen in autosomal-dominant polycystic kidney disease.(review) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151256.RAcSMMjYD9gdV8f3Vlglk0AJ2ZO70wgRr8FV7ju-4LWII130_provenance.
- NP151257.RAaRKnpa67wJjK58P3dSp-w_Plafidc3ANTRSApg0ruyU130_assertion description "[Mapping studies of NEK1 regulatory domain indicate interaction with most of the proteins known to take part in etiology of polycystic kidney disease, in double-strand DNA break repair at the G2/M cell-cycle transition phase, or in neural cell development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151257.RAaRKnpa67wJjK58P3dSp-w_Plafidc3ANTRSApg0ruyU130_provenance.
- NP151262.RARMwAC8iiej0GTQUqwkvee-YZAtEVSVXvocl_iX6zkRU130_assertion description "[Role of EP2 receptor in mediating the PGE2 effect on stimulating cyst formation may have direct pharmacological implications for the treatment of polycystic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151262.RARMwAC8iiej0GTQUqwkvee-YZAtEVSVXvocl_iX6zkRU130_provenance.
- NP151264.RAbjCJbm3sy-M2BEFQBO05qCFrNFzrnchU_DgJuk0e8x0130_assertion description "[Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the PKD1 gene on chromosome 16p13.3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151264.RAbjCJbm3sy-M2BEFQBO05qCFrNFzrnchU_DgJuk0e8x0130_provenance.
- NP151265.RAXaL7RrgRBpYltVYuG5hGCG_5KaSkRqNgWn2Qn2l-hbg130_assertion description "[mTOR is regulatd by polycystin-1 in polycystic kidney disease [review]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151265.RAXaL7RrgRBpYltVYuG5hGCG_5KaSkRqNgWn2Qn2l-hbg130_provenance.
- NP151268.RATK7uw1nBTLhYyXuY_26bkbEwJvA5KxlaVoKtNPhg8Bg130_assertion description "[Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the TSC2 gene on chromosome 16p13.3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151268.RATK7uw1nBTLhYyXuY_26bkbEwJvA5KxlaVoKtNPhg8Bg130_provenance.
- NP151270.RAQbG3U0Q9n0BS7406di15KcNcOHkhfU9Uwzhr69XP0wM130_assertion description "[C-erbB-2 gene may be an important regulating gene in the coal miners with pneumoconiosis complicated by pulmonary cancer, and as a reference index to determine lymph node metastasis and prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151270.RAQbG3U0Q9n0BS7406di15KcNcOHkhfU9Uwzhr69XP0wM130_provenance.
- NP151275.RAd1kl5EsIYlSwanGnjnOZJhxCVqlQYfwNdOFZ6A3LLaw130_assertion description "[polymorphisms studied do not play a major role in paranoid schizophrenia pathogenesis in the population investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151275.RAd1kl5EsIYlSwanGnjnOZJhxCVqlQYfwNdOFZ6A3LLaw130_provenance.
- NP151276.RAdQMyLIpxT3bD6-prX3EXz7jJ9A2Qu8F_R2WQyt4rzN0130_assertion description "[Polymorphisms studied do not play a major role in paranoid schizophrenia pathogenesis in the population investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151276.RAdQMyLIpxT3bD6-prX3EXz7jJ9A2Qu8F_R2WQyt4rzN0130_provenance.
- NP151279.RAXXQ0S4WX3kQCqP-VqjqmAA99QKkKwpTAGM1NRTC027M130_assertion description "[Differential protein kinase C isoform abundance was observed in thoracic aortic aneurysm samples from patients with bicupsid valve versus those with tricupsid valve, suggesting independent molecular signaling pathways may be operative.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151279.RAXXQ0S4WX3kQCqP-VqjqmAA99QKkKwpTAGM1NRTC027M130_provenance.
- NP151282.RAff89sOj0sB9z9fcGMFk7qypDX0o_f9fq7xQc0etRi6s130_assertion description "[Incubation of podocytes with membranous glomerulonephritis sera determined strong upregulation of pPKC-alpha/beta that was reverted by pre-incubation with clusterin ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151282.RAff89sOj0sB9z9fcGMFk7qypDX0o_f9fq7xQc0etRi6s130_provenance.
- NP151286.RASMPqRTA72ECOXiYZVsa8CCkfs4HBKGRLYw3XUX8dtI8130_assertion description "[Deficiency is manifested by fish eye disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151286.RASMPqRTA72ECOXiYZVsa8CCkfs4HBKGRLYw3XUX8dtI8130_provenance.
- NP151287.RASwB_dOEXW1QqmB6j8z9_l1iQYyOBRLYdlcJdbzNcbBk130_assertion description "[MYCN genomic copy number from 44 human brain tumors (22 medulloblastomas and 22 neurocytomas) was determined.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151287.RASwB_dOEXW1QqmB6j8z9_l1iQYyOBRLYdlcJdbzNcbBk130_provenance.
- NP151288.RARy0u56EvbK0O_F_1rufOVwWCsSbtuuRXl_UYhgMl70s130_assertion description "[ABCG2 higher expression is associated with minimal residual disease in mantle cell lymphoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151288.RARy0u56EvbK0O_F_1rufOVwWCsSbtuuRXl_UYhgMl70s130_provenance.
- NP151293.RAZbC_BCeXEJJPOOMoyRa2z6NX1qs9afTNsR0OJFha1pk130_assertion description "[Gene expression is a sensitive and semiquantitative marker for minimal residual disease detection of neuroblastoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151293.RAZbC_BCeXEJJPOOMoyRa2z6NX1qs9afTNsR0OJFha1pk130_provenance.
- NP151298.RARVlZcVTR2R9Blw71urJF-jjheq0tNGRHhvYQ0kbL9lM130_assertion description "[MLL with a partial tandem duplication is expressed in minimal residual disease in acute myeloid leukemi ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151298.RARVlZcVTR2R9Blw71urJF-jjheq0tNGRHhvYQ0kbL9lM130_provenance.
- NP151300.RAXunoGzwohkjvBtJT6DleB6asibGq-y6kv3-pv7bCPAY130_assertion description "[Higher expression of BCL2 is associated with minimal residual disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151300.RAXunoGzwohkjvBtJT6DleB6asibGq-y6kv3-pv7bCPAY130_provenance.
- NP151305.RAaC1pbWr38gs7qZkALa5vS1b5d2gWjQIhdOvC7S811xA130_assertion description "[TPMT genotype has a substantial impact on minimal residual disease after administration of mercaptopurine in the early course of childhood ALL, most likely through modulation of mercaptopurine dose intensity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151305.RAaC1pbWr38gs7qZkALa5vS1b5d2gWjQIhdOvC7S811xA130_provenance.
- NP151308.RASdvidBN3NS7b4zAGH9gzQZW74Ybj0tH_kAEsBdbFlsk130_assertion description "[analysis of missense mutations in SRY site reveals its role in gonadal dysgenesis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151308.RASdvidBN3NS7b4zAGH9gzQZW74Ybj0tH_kAEsBdbFlsk130_provenance.
- NP151310.RAUanZjrVeK3R44PlXv5i216x7FkVgAXcCfzv3-VARHXM130_assertion description "[Results suggest the involvement of SRY gene in sex reversal which further supports the relationship between SRY alterations, gonadal dysgenesis and/or primary infertility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151310.RAUanZjrVeK3R44PlXv5i216x7FkVgAXcCfzv3-VARHXM130_provenance.
- NP151312.RAcZZ7pWW1uecFht0d1EVto_nm8i7QTbSC4-tp7jP418M130_assertion description "[SHBG androgen sensitivity test is a simple diagnostic tool for the detection of androgen receptor malfunction in gonadal dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151312.RAcZZ7pWW1uecFht0d1EVto_nm8i7QTbSC4-tp7jP418M130_provenance.
- NP151315.RAcI-8FypB_S540Wyd0xUP6TavWwlR6qOaXh99Tvhqokc130_assertion description "[Presence of soluble ICAM-1 in the cerebrospinal fluid of children during the early phase of mumps meningitis may be a useful marker of inflammatory responses in the central nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151315.RAcI-8FypB_S540Wyd0xUP6TavWwlR6qOaXh99Tvhqokc130_provenance.
- NP151316.RAYZKoijLjfltR9d7T88S-4gNpfdHrskSD4SS9q9RKh-4130_assertion description "[HSP27-dependent thermotolerance is suppressed by mumps virus infection through the destruction of STAT-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151316.RAYZKoijLjfltR9d7T88S-4gNpfdHrskSD4SS9q9RKh-4130_provenance.
- NP151321.RASlcqPqFa0ZI52HCzAJlUImSuyxk7E1dwfofkzxJW9XA130_assertion description "[Apo D differentiates superficial acral fibromyxoma from dermatofibrosarcoma protuberans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151321.RASlcqPqFa0ZI52HCzAJlUImSuyxk7E1dwfofkzxJW9XA130_provenance.
- NP151322.RARVFkrf4vG5dm9T7YRJpWqQcQ5uaqNWkpa4vkoBmiFpI130_assertion description "[there are somatic mutations of APC & beta-catenin genes in desmoid-type fibromatosis & abnormalities in Wnt signal pathway; these abnormalities may result in aberrant cell proliferation & apoptosis, which may be important in tumorigenesis & progression ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151322.RARVFkrf4vG5dm9T7YRJpWqQcQ5uaqNWkpa4vkoBmiFpI130_provenance.
- NP151323.RAe4BJ7XkWRJTLUh60MPuL7Ipp8IBJ3ib9kFH2a-VJIRQ130_assertion description "[Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151323.RAe4BJ7XkWRJTLUh60MPuL7Ipp8IBJ3ib9kFH2a-VJIRQ130_provenance.
- NP151324.RASq8_GM9Js_gSyr0cE2-93CJthATou_bVZuPjt2-VQ54130_assertion description "[there are somatic mutations of APC & beta-catenin genes in desmoid-type fibromatosis & abnormalities in Wnt signal pathway; these abnormalities may result in aberrant cell proliferation & apoptosis, which may be important in tumorigenesis & progression ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151324.RASq8_GM9Js_gSyr0cE2-93CJthATou_bVZuPjt2-VQ54130_provenance.
- NP151325.RAelEQFJl9WU2BMNKh-jkmbU9Kvb20_OyFF3VY9Qam1NY130_assertion description "[The accumulation of acetaldehyde due to ALDH2 inactivity is associated with alcoholic polyneuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151325.RAelEQFJl9WU2BMNKh-jkmbU9Kvb20_OyFF3VY9Qam1NY130_provenance.
- NP151327.RAdRe6Z3TqwqWvgFX3vd8S15Bz8klkyuSDGk_83LD2Euw130_assertion description "[The alphaIIb G236E mutation causes Glanzmann's thrombasthenia by impairing the association with beta3 during biogenesis of the receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151327.RAdRe6Z3TqwqWvgFX3vd8S15Bz8klkyuSDGk_83LD2Euw130_provenance.
- NP151333.RAeH-x0l6ocymhnCuISvIQ1H-Qbk22An-udTIinfxTSkw130_assertion description "[The mutation at the position 29 107 of intron 10, G-- > T, in the beta3 genomic DNA was found to induce an aberrant splicing and to be responsible for Glanzmann's thrombasthenia in this patient ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151333.RAeH-x0l6ocymhnCuISvIQ1H-Qbk22An-udTIinfxTSkw130_provenance.
- NP151335.RAXu0lCkjpSFEOft7PzgYjFd11T4ll6fgvtKP5799pARY130_assertion description "[high prevalence of the HPA-1b allele of beta3 in Glanzmann thrombasthenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151335.RAXu0lCkjpSFEOft7PzgYjFd11T4ll6fgvtKP5799pARY130_provenance.
- NP151340.RARpAqzaUX6vAvbwipKsEA07XjuSeNYROIhu9hkXiofto130_assertion description "[analysis of platelet integrin alphaIIbbeta3 mutations that may play a role in Glanzmann thrombasthenia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151340.RARpAqzaUX6vAvbwipKsEA07XjuSeNYROIhu9hkXiofto130_provenance.
- NP151352.RAZQusT2Lby0MA5FbhNMypqemdLeue1zUjNxthcy5OohA130_assertion description "[IgE autoantibodies to BP180 and BP230 are detected at high frequencies in bullous pemphigoid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151352.RAZQusT2Lby0MA5FbhNMypqemdLeue1zUjNxthcy5OohA130_provenance.
- NP151357.RAYZkbyBm_yWLZaqtu2WeKS4IYtvYDlL2Yby27eP2AISU130_assertion description "[IgE autoantibodies to BP180 and BP230 are detected at high frequencies in bullous pemphigoid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151357.RAYZkbyBm_yWLZaqtu2WeKS4IYtvYDlL2Yby27eP2AISU130_provenance.
- NP151367.RAbZtEEJaqTYR3muwlUL2P6MRF98xu8uwbhbH9zLIdmPg130_assertion description "[VEGF plasma concentrations were significantly higher in patients with cerebral arteriovenous malformations (AVMs) than controls; findings suggest that VEGF plasma concentrations might play a role in the pathogenesis of cerebral AVMs ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151367.RAbZtEEJaqTYR3muwlUL2P6MRF98xu8uwbhbH9zLIdmPg130_provenance.
- NP151368.RAYlD8nQcZnNKs4eIUuMvVEH3I4jKbGnKXqKj-r7bx8kU130_assertion description "[Expression of integrins alphavbeta1, alphavbeta3, and alphavbeta5 in cerebral arteriovenous malformations and cavernous malformations/Integrins alphavbeta1, alphavbeta3, and alphavbeta5) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151368.RAYlD8nQcZnNKs4eIUuMvVEH3I4jKbGnKXqKj-r7bx8kU130_provenance.
- NP151369.RAfttge2lJklW75CzZM4yoyY0VRYmy2dSFcTShrDpELpY130_assertion description "[The results suggest that the intensity levels of platelet CD61 were elevated and associated with clinical phases and disease severity in patients with hemorrhagic fever with renal syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151369.RAfttge2lJklW75CzZM4yoyY0VRYmy2dSFcTShrDpELpY130_provenance.