Nanopublications

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

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NP518705.RADbiI11b7EoqhMjLINiI2iYGUlJroONaMpzF6D9PN5ww130_assertion description "[In addition to these pro-oncogenic behaviors, FKHR-PAX3 also negatively affected cell migration and invasion in vitro and lung metastasis in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518705.RADbiI11b7EoqhMjLINiI2iYGUlJroONaMpzF6D9PN5ww130_provenance.
NP518717.RABCOeDGWh0E_dNXEGotbxRiXd_v1pYytXSFxYZima2MY130_assertion description "[Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518717.RABCOeDGWh0E_dNXEGotbxRiXd_v1pYytXSFxYZima2MY130_provenance.
NP518741.RAB1dRHgpSCXFLmlkSLGBUQB_Ti4L3LTXq14w6tIyQePY130_assertion description "[Human Translin is a novel DNA end binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments, in human lymphoid neoplasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518741.RAB1dRHgpSCXFLmlkSLGBUQB_Ti4L3LTXq14w6tIyQePY130_provenance.
NP518743.RAC5SWIcKIv7OUQmr_1x-RQ9ZQB6lKlkOXSzcbSFJoONE130_assertion description "[The specificity was assessed in the blood of six healthy donors, four patients with non-melanoma cancers of which one patient was treated with granulocyte-colony stimulating factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518743.RAC5SWIcKIv7OUQmr_1x-RQ9ZQB6lKlkOXSzcbSFJoONE130_provenance.
NP518754.RAC78w5mgEPRE2-rHe7ZlL5oTcf050fDIam2_tOsCZNAs130_assertion description "[Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers-Danlos syndrome type VI (EDS VI; kyphoscoliosis type), have significantly decreased lysyl hydroxylase (LH) activity due to mutations in the LH1 gene (classified as EDS VIA: OMIM no.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518754.RAC78w5mgEPRE2-rHe7ZlL5oTcf050fDIam2_tOsCZNAs130_provenance.
NP518799.RACTH-G-JpRR3Fn64CJ_IhjkjIt6XcLprV0G2HUzWrf3g130_assertion description "[Mutant transcripts were also recovered from tissues of a 23-week-old AGS foetus with a PTC mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518799.RACTH-G-JpRR3Fn64CJ_IhjkjIt6XcLprV0G2HUzWrf3g130_provenance.
NP518831.RAD6gMSSm7oPxmYFxolAhbpVD2XyDcxoocv_yQN9RcuXU130_assertion description "[GIT1 is associated with ADHD in humans and ADHD-like behaviors in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518831.RAD6gMSSm7oPxmYFxolAhbpVD2XyDcxoocv_yQN9RcuXU130_provenance.
NP518856.RABHR9jlTBbbmE3Z3kTyH4NWSOIhKhubbzy6m94flU4LE130_assertion description "[Collectively, these results suggest that the two Protein 4.1 meningioma tumor suppressors, merlin and DAL-1, may be functionally distinct proteins with different mechanisms of action.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518856.RABHR9jlTBbbmE3Z3kTyH4NWSOIhKhubbzy6m94flU4LE130_provenance.
NP518872.RADtdKjxeQZHtYLjIKQ9lDmOljhGdZcM-ge6srOebrghk130_assertion description "[Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518872.RADtdKjxeQZHtYLjIKQ9lDmOljhGdZcM-ge6srOebrghk130_provenance.
NP518878.RACY8fGyTpk5yyVVZxNrH85XK8PlPLZ6VDJq9v4N_ob8Q130_assertion description "[These results suggest that hyperglycemia in diabetes downregulated TRPC6 protein expression in MCs through a NADPH oxidase Nox4-ROS-PKC pathway, proving a mechanism for impaired MC contraction in diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518878.RACY8fGyTpk5yyVVZxNrH85XK8PlPLZ6VDJq9v4N_ob8Q130_provenance.
NP518879.RADn5pnny-Aci6Ci3BMPXUp5TIBumYLsuezPEWc1nHbQE130_assertion description "[We simultaneously analyzed the somatic mutations of EGFR, ERBB2, K-RAS, PIK3CA and BRAF genes in the 12 samples with the ERBB4 mutations and found that 1 gastric carcinoma with ERBB4 mutation also harbored K-RAS gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518879.RADn5pnny-Aci6Ci3BMPXUp5TIBumYLsuezPEWc1nHbQE130_provenance.
NP518893.RAAAifQjxpn723d0JshyrlWA6EwkTeUMIiRvPqmNFGY1M130_assertion description "[Impact of numerical variation in FMS-like tyrosine kinase receptor 3 internal tandem duplications on clinical outcome in normal karyotype acute myelogenous leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518893.RAAAifQjxpn723d0JshyrlWA6EwkTeUMIiRvPqmNFGY1M130_provenance.
NP518921.RAD0_L_zDXjgwSl__e5jbjo9n4pCeGjvHooRsLQnqdNe0130_assertion description "[Systemic lymph nodes demonstrated diffuse encasement by large lymphoma cells positive for CD45, CD2, CD3, CD5, CD7, CD8, TIA1, and granzyme B, accompanied with marked hemophagocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518921.RAD0_L_zDXjgwSl__e5jbjo9n4pCeGjvHooRsLQnqdNe0130_provenance.
NP518922.RAAXqQ883d5qwvh8Dz2mQgYAq6Eg2OcEjsh2LbAu2t3Y0130_assertion description "[Moderate drinkers with a defective alcohol dehydrogenase type 3 (ADH3) genotype have higher high-density lipoprotein (HDL) levels and a decreased risk of coronary artery disease (CAD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518922.RAAXqQ883d5qwvh8Dz2mQgYAq6Eg2OcEjsh2LbAu2t3Y0130_provenance.
NP518949.RAC8ZF9yFHPaRClKdN8o1E01aleTPqtNT-_z4uU1eYvNs130_assertion description "[Our results support the hypothesis that p53 function is suppressed by aberrant HDM2 activity and suggest the possibility of targeting the p53-HDM2 regulatory axis as a therapeutic strategy in synovial sarcoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518949.RAC8ZF9yFHPaRClKdN8o1E01aleTPqtNT-_z4uU1eYvNs130_provenance.
NP518970.RABJkEnuNygx_--L2PZaQdL6rih5_LP91HeKackHt1hD4130_assertion description "[PTGER2 overexpression in colorectal cancer is associated with microsatellite instability, independent of CpG island methylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518970.RABJkEnuNygx_--L2PZaQdL6rih5_LP91HeKackHt1hD4130_provenance.
NP518986.RADFnrvB1LjLUiE3npbJKyl_Zn2-jWwdGlFM-a-HqOiSw130_assertion description "[Immunoblot characterization and immunofluorescence localization of dystrophin are presented for 76 human patients with various neuromuscular diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518986.RADFnrvB1LjLUiE3npbJKyl_Zn2-jWwdGlFM-a-HqOiSw130_provenance.
NP519030.RABBCO8xNfpKNCxUkY_rMl_97uePsHxGWMCa3YPmKh1QM130_assertion description "[This raises the question of whether other aberrations are occurring in the MAP kinase cascade in the melanoma types with infrequent mutations of BRAF and NRAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519030.RABBCO8xNfpKNCxUkY_rMl_97uePsHxGWMCa3YPmKh1QM130_provenance.
NP519034.RABrJjYoGgWyJVHVPgNxulzcGgJh7s1B0Uxuowff5Q4IY130_assertion description "[At the transcriptional level, TMPRSS4 message was significantly elevated in the majority of human squamous cell and adenocarcinomas compared with normal lung tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519034.RABrJjYoGgWyJVHVPgNxulzcGgJh7s1B0Uxuowff5Q4IY130_provenance.
NP519038.RADVf4giL-zSDDGDgIEuDn9k3e8Dvfuw2t8wn88ECGOds130_assertion description "[This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519038.RADVf4giL-zSDDGDgIEuDn9k3e8Dvfuw2t8wn88ECGOds130_provenance.
NP519054.RABQq2ReKyh3XolQ8dS7-qRSb-wR4d8--zYKditvPtNlo130_assertion description "[Panels of immunohistochemical stains are proposed for different settings, including renal cell carcinoma (RCC) marker, CD10, and vimentin to suggest renal origin of a metastatic tumor, and markers to aid in subclassification of RCC, including parvalbumin and c-kit for chromophobe RCC, and cytokeratin 7 and alpha-methyl-acyl-CoA racemase for papillary RCC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519054.RABQq2ReKyh3XolQ8dS7-qRSb-wR4d8--zYKditvPtNlo130_provenance.
NP519059.RADMgcjvmY1u5Hx5888S1Scc_ZhZNkQVZiauzjA-vnXK4130_assertion description "[Therefore, we examined the methylation status of nine genes (p16(INK4A), MGMT, GSTP1, RASSF1A, APC, DAPK, RARbeta, CDH1 and CDH13) in 175 primary pediatric tumors and 23 tumor cell lines using methylation-specific PCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519059.RADMgcjvmY1u5Hx5888S1Scc_ZhZNkQVZiauzjA-vnXK4130_provenance.
NP519060.RABbFtMO7mK5vXJdY8vzMMkTTR5XMD3aO8NxYLQRTPnSM130_assertion description "[We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519060.RABbFtMO7mK5vXJdY8vzMMkTTR5XMD3aO8NxYLQRTPnSM130_provenance.
NP519124.RAAkKwhwgyhd-b-k4amlFWGVoxOSdlXiqpgl24Ml5G4wA130_assertion description "[With the exception of the implantable cardioverter defibrillator (ICD) there are few effective strategies for the prevention and treatment of SCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519124.RAAkKwhwgyhd-b-k4amlFWGVoxOSdlXiqpgl24Ml5G4wA130_provenance.
NP519133.RACjI72_09eviIGQCRd3M-dpSgnukd0kMPdpzuWnY4M6A130_assertion description "[A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519133.RACjI72_09eviIGQCRd3M-dpSgnukd0kMPdpzuWnY4M6A130_provenance.
NP519136.RACCSt975Z1fmsxl16DcDy7kLOiuIaxhzLek-Chl_Hrkk130_assertion description "[Endostatin, a C-terminal fragment of collagen 18a, inhibits the growth of established tumors and metastases in vivo by inhibiting angiogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519136.RACCSt975Z1fmsxl16DcDy7kLOiuIaxhzLek-Chl_Hrkk130_provenance.
NP519151.RAC07ZNbIPC9fHViI4TpZQAX6FzLTBoGOdtEn0CV4Os7k130_assertion description "[Mutations in FUS/TLS (fused in sarcoma/translated in liposarcoma) cause an inheritable form of amyotrophic lateral sclerosis (ALS6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519151.RAC07ZNbIPC9fHViI4TpZQAX6FzLTBoGOdtEn0CV4Os7k130_provenance.
NP519158.RACmByxbO-e9n10m1OwtA-Q7dS3dSIE7lnL7eoliPLxxE130_assertion description "[Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519158.RACmByxbO-e9n10m1OwtA-Q7dS3dSIE7lnL7eoliPLxxE130_provenance.
NP519199.RAA6h3OZalPNEgdDzVICVNh2HgoxrCTen7-2OG784QE7g130_assertion description "[To investigate the association of TNF G-308A with asthma and wheezing and to determine whether these associations vary with ozone exposure and GSTM1 and GSTP1 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519199.RAA6h3OZalPNEgdDzVICVNh2HgoxrCTen7-2OG784QE7g130_provenance.
NP519202.RABqVh1I3zMLYtz05092LCIy-T2J9KZcCcqgHYpTt9S0c130_assertion description "[The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, the plasminogen activator inhibitor (PAI)-1 promoter polymorphism, lipoprotein (Lp)(a), antithrombin, protein C, and protein S were investigated in 48 childhood patients aged neonate to <18 years (median 0.5 years) with spontaneous venous thromboembolism (SVT) compared with the carrier status of their first-degree family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519202.RABqVh1I3zMLYtz05092LCIy-T2J9KZcCcqgHYpTt9S0c130_provenance.
NP519223.RADJ5-UXV601xemDp2Niov4AuM2fhjmRLh_fK13hULiRQ130_assertion description "[This identified 52 somatic non-synonymous mutations in 32 genes, many of which were novel, including the transcriptional coactivators CREBBP and NCOR1, the transcription factors ERG, SPI1, TCF4 and TCF7L2, components of the Ras signalling pathway, histone genes, genes involved in histone modification (CREBBP and CTCF), and genes previously shown to be targets of recurring DNA copy number alteration in ALL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519223.RADJ5-UXV601xemDp2Niov4AuM2fhjmRLh_fK13hULiRQ130_provenance.
NP519227.RABUJnUNvcl_RXNAhNM-TagbbFs0euE3CQqRfMOZl6kyg130_assertion description "[Here, we show that an oncogenic X protein of hepatitis B virus (HBx) overcomes cellular senescence provoked by a universal premature senescence inducer, H(2)O(2), in human hepatoma cells, as demonstrated by impaired induction of senescence-associated biomarkers, including morphological change, G(1) arrest, and beta-galactosidase activity, in the presence of HBx.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519227.RABUJnUNvcl_RXNAhNM-TagbbFs0euE3CQqRfMOZl6kyg130_provenance.
NP519244.RAAnVW06cdsvmVBIHcEykgyix0sNYtlYwI2NdpE4fNo6k130_assertion description "[Taken together, our results suggest that human MutS homologs and FANCM complexes function as redundant DNA damage sensors of the FA pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519244.RAAnVW06cdsvmVBIHcEykgyix0sNYtlYwI2NdpE4fNo6k130_provenance.
NP519272.RAA3YGI6u6-nZ1jW2c-_lJSsj3BgS_fCOWE_rzbNV4J5M130_assertion description "[We investigated the regulatory role of HLA-DRB1 alleles on cytokine response to live M. tuberculosis and its culture filtrate antigen (CFA) in normal healthy subjects (NHS) and pulmonary tuberculosis (PTB) patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519272.RAA3YGI6u6-nZ1jW2c-_lJSsj3BgS_fCOWE_rzbNV4J5M130_provenance.
NP519273.RAC7e_6HwnrX261xMa3RlnlM40vqjti8vm-O7czV-4D4Y130_assertion description "[Focusing on ARID1A, we integrated mutation profiles with functional proteomics in 222 endometrial cancer samples, demonstrating that ARID1A mutations frequently co-occur with mutations in the phosphatidylinositol 3-kinase (PI3K) pathway and are associated with PI3K pathway activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519273.RAC7e_6HwnrX261xMa3RlnlM40vqjti8vm-O7czV-4D4Y130_provenance.
NP519306.RABjkzlyy3sN4Ylek6a3LLnBb82ODF3i45sk1mFyrrpwo130_assertion description "[The pattern of copy number changes was similar between pheochromocytomas and paragangliomas, with the most consistent finding being loss of 1cen-p31, which was detected in 28/34 tumors (82%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519306.RABjkzlyy3sN4Ylek6a3LLnBb82ODF3i45sk1mFyrrpwo130_provenance.
NP519348.RAAj9X6sxHnGDgQIzUU5CFDPPFmSZ2WutEs4lMYHcHmLI130_assertion description "[In this review, we show that in gynecological cancers, HIF-1A is emerging as an important factor in carcinogenesis, and that overexpression of HIF-1A and its target genes CA9 and SLC2A1 seems associated with shorter progression free- and overall survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519348.RAAj9X6sxHnGDgQIzUU5CFDPPFmSZ2WutEs4lMYHcHmLI130_provenance.
NP519371.RABvdL12AcT7uhRFdRlcNYmc9YmvoB0PjUUdUJAYBmzI0130_assertion description "[Single-marker analysis revealed a significant association of FOXP3 C-2383T and FCRL3 C-169T, independently, with endometriosis-related infertility, regardless of the stage of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519371.RABvdL12AcT7uhRFdRlcNYmc9YmvoB0PjUUdUJAYBmzI0130_provenance.
NP519394.RAClbNSSF00ETtPw8ZdkSLez8hFQiDWGlRa1U7223ZYbU130_assertion description "[It is suggested that alterations of K-ras and p53 may be early events in the tumorigenesis of IMHN and may cooperate to produce neoplastic transformation of the pancreatic duct epithelium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519394.RAClbNSSF00ETtPw8ZdkSLez8hFQiDWGlRa1U7223ZYbU130_provenance.
NP519421.RAAa1gXKUDc4ZrQNMle-i5g2BRJhr0-NBBuZUbIYguPXI130_assertion description "[Positive expressions of hTERC and hTERT mRNA were recognized in 27.3% and 27.3% of low-grade AAHs, 72.2% and 77.8% of high-grade AAHs, and 97.5% and 97.5% of NMBACs, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519421.RAAa1gXKUDc4ZrQNMle-i5g2BRJhr0-NBBuZUbIYguPXI130_provenance.
NP519425.RAD0aXxnGcZCjm1VuB4mbc2vLgx2dFfXorSUT2GyVyjuE130_assertion description "[Thus, we found mutations in the HSD3B7 gene accounting for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519425.RAD0aXxnGcZCjm1VuB4mbc2vLgx2dFfXorSUT2GyVyjuE130_provenance.
NP519468.RAAFlKNbbbZzCdEGbECa44rr7aJckNgRHU8zuarqD--zk130_assertion description "[Patients with PTH resistance in the absence of Albright hereditary osteodystrophy (PHP1B) have an imprinting defect of the G(s)alpha gene resulting in both alleles having a paternal epigenotype, which would lead to a more moderate level of thyroid-specific G(s)alpha deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519468.RAAFlKNbbbZzCdEGbECa44rr7aJckNgRHU8zuarqD--zk130_provenance.
NP519471.RAAToYgC-PJUXzcd-J0dkO6rvuIhsE4_Kr2dK167YhgnA130_assertion description "[We had previously shown that amplified RPS6KB1 and CDC2 are commonly detected in the EBV+ diffuse large B-cell lymphoma (DLBCL) in HIV patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519471.RAAToYgC-PJUXzcd-J0dkO6rvuIhsE4_Kr2dK167YhgnA130_provenance.
NP519497.RAAnO6SA20OF-fpltrrPQJtJGkta5L5L8oUruZvUYcrCA130_assertion description "[These findings suggest that changes of DCC and APC/MCC genes are involved in the development and progression of the intestinal and gastric types of gastric cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519497.RAAnO6SA20OF-fpltrrPQJtJGkta5L5L8oUruZvUYcrCA130_provenance.
NP519507.RABfkZRfy04O3QrSMV5hPIxnsHjzigMgMqEOkHzyy7nLU130_assertion description "[Tumor suppressor gene MTS1/p16 (cyclin-dependent kinase-4 inhibitor) and a putative tumor metastasis suppressor gene nm23 (nucleoside diphosphate A kinase) have been identified in a variety of human tumors but have not been well studied in mesenchymal neoplasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519507.RABfkZRfy04O3QrSMV5hPIxnsHjzigMgMqEOkHzyy7nLU130_provenance.
NP519520.RAD9y8VCqF3h4z66_7dtjJv-EofWtMtgVzgCXx1lcQqrg130_assertion description "[These findings highlight the complexity and central importance of specific combinations of activating KIR and HLA-C in maternal-fetal immune interactions that determine reproductive success.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519520.RAD9y8VCqF3h4z66_7dtjJv-EofWtMtgVzgCXx1lcQqrg130_provenance.
NP519574.RAC4l38iXLT5BnfvP_BaM9xX-GxNczvOLQ-FjsakCKp1U130_assertion description "[To enhance glioblastoma (GB) marker discovery we compared gene expression in GB with human normal brain (NB) by accessing SAGE Genie web site and compared obtained results with published data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519574.RAC4l38iXLT5BnfvP_BaM9xX-GxNczvOLQ-FjsakCKp1U130_provenance.
NP519638.RADDNCp4t8fiy6rCRck6oWO_FbICaTQcFKXVdEs5wxOPA130_assertion description "[Although this locus falls outside the Langer-Giedion syndrome region, and therefore excludes BMP-1 as a candidate gene for this disorder, BMP-1 gene sublocalization establishes a chromosomal landmark for evaluating other possible disease associations with BMP-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519638.RADDNCp4t8fiy6rCRck6oWO_FbICaTQcFKXVdEs5wxOPA130_provenance.
NP519662.RACJuGYApK2G8K9hm2XkW4IAL30VnaMo4ZfpSqOxejOxo130_assertion description "[Comparative analysis of oncofetal fibronectin and tenascin-C expression in right atrial auricular and left ventricular human cardiac tissue from patients with coronary artery disease and aortic valve stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519662.RACJuGYApK2G8K9hm2XkW4IAL30VnaMo4ZfpSqOxejOxo130_provenance.
NP519675.RAAkRGc7O6wuoEuB7U67n5l7gxowoCLc8iJiHUu0HccBw130_assertion description "[Among women, patients were more likely than controls to report hormonally related conditions--uterine fibroid tumors (OR 1.2, 95% CI 1.0-1.5), endometriosis (OR 1.5, 95% CI 1.5-2.1), and breast cancer (OR 1.4, 95% CI 0.8-2.3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519675.RAAkRGc7O6wuoEuB7U67n5l7gxowoCLc8iJiHUu0HccBw130_provenance.
NP519678.RAB_DsaMfvjgRFxnUVHiNIr1ZpFGpGY6wYdIjkXw_tdfY130_assertion description "[The camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (Proteoglycan 4) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519678.RAB_DsaMfvjgRFxnUVHiNIr1ZpFGpGY6wYdIjkXw_tdfY130_provenance.
NP519701.RAAdhzrKY47MknXbxxQUnJQvfTkr_yiZF3VzPiIWJZHmY130_assertion description "[We examined the effect of genetic polymorphisms of phase-II enzymes, glutathione S-transferase P1 (GSTP1) and N-acetyltransferase2 (NAT2) on susceptibility to esophageal squamous-cell carcinoma To determine the genotypes of the 2 polymorphisms, PCR-based analysis was performed on samples from 66 Japanese patients who had been histologically diagnosed as having esophageal squamous-cell carcinoma, and 164 healthy Japanese controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519701.RAAdhzrKY47MknXbxxQUnJQvfTkr_yiZF3VzPiIWJZHmY130_provenance.
NP519722.RACriRs8N9hG7AjrKb05X6i2NwwxhaE9KvD_zb5Nx3JxU130_assertion description "[The role of MDM4 in cancer development is not well understood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519722.RACriRs8N9hG7AjrKb05X6i2NwwxhaE9KvD_zb5Nx3JxU130_provenance.
NP519733.RADdyWGQN8xhfoGlxVLeWSP8F2DUSC7qa9iHnghsFQJUw130_assertion description "[Importantly, T cells from patients with active lupus have hypomethylated DNA and overexpress LFA-1 on an autoreactive subset, suggesting that the same mechanism could contribute to human lupus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519733.RADdyWGQN8xhfoGlxVLeWSP8F2DUSC7qa9iHnghsFQJUw130_provenance.
NP519738.RAAqI9weHAdF5g6dUv88p5TL1bmh_P4j-94fY4Gy7ZMf4130_assertion description "[The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519738.RAAqI9weHAdF5g6dUv88p5TL1bmh_P4j-94fY4Gy7ZMf4130_provenance.
NP519762.RADT5bxNT18s2uvTjB2Fx_o-bSNbgsyGltXI4BhfnB1zA130_assertion description "[Mutations in the human GCS1 gene give rise to the congenital disorder of glycosylation termed CDG IIb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519762.RADT5bxNT18s2uvTjB2Fx_o-bSNbgsyGltXI4BhfnB1zA130_provenance.
NP519780.RAAaXN3miCRk4VOglYBiV-HxmuH9iFFdZdmOE_LDHJQ0M130_assertion description "[We have previously demonstrated that ZNF267 expression is up-regulated in liver cirrhosis and is further increased in hepatocellular carcinoma (HCC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519780.RAAaXN3miCRk4VOglYBiV-HxmuH9iFFdZdmOE_LDHJQ0M130_provenance.
NP519797.RACYAJhR7JGqJ6_4s3W1qvWghINGN1IfXcN9HHu3Fgq1A130_assertion description "[Genes PTGS2 (COX2), CALCA, MTHFR, ESR1, MGMT, MYOD1, and APC showed statistically significant differences in the level of CpG island methylation between small cell lung cancer (SCLC) and non-small cell lung cancer cell lines (NSCLC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519797.RACYAJhR7JGqJ6_4s3W1qvWghINGN1IfXcN9HHu3Fgq1A130_provenance.
NP519818.RABDYILLlLNSHAq_JJ2sn4uPr9M2YisDAGIlkdO22djyM130_assertion description "[In this study we evaluated the frequency of fusion between TMPRSS2 and ETS family members (ERG, ETV1, ETV4) in prostate cancers in patients from northern China in order to explore differences in fusion rates among regions in northern and southern China, other parts of Asia, Europe, and North America.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519818.RABDYILLlLNSHAq_JJ2sn4uPr9M2YisDAGIlkdO22djyM130_provenance.
NP519828.RADBtZeg7rC-JNHUDQbMvmCGKJQh6XracCPLdiaTOL274130_assertion description "[The plasminogen pathway plays an important role in the behavior of many tumors including lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519828.RADBtZeg7rC-JNHUDQbMvmCGKJQh6XracCPLdiaTOL274130_provenance.
NP519832.RADEXYOD-GHPs3mNxFYLhMVXpOJexlAeUF6WAePFd3HZ4130_assertion description "[Univariate analyses revealed over-expression of RABEP1, PGR, NAT1, PTP4A2, SLC39A6, ESR1, EVL, TBC1D9, FUT8, and SCUBE2 were all associated with reduced time to disease-related mortality (HR between 0.8 and 0.91, adjusted p < 0.05), while RABEP1, PGR, SLC39A6, and FUT8 were also associated with reduced recurrence times.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519832.RADEXYOD-GHPs3mNxFYLhMVXpOJexlAeUF6WAePFd3HZ4130_provenance.
NP519841.RAAZS82eYvLhNBMZr0cPIBVSWnFZMrHQnatI_uthYZDr0130_assertion description "[Induction of cyclin-dependent kinase 5 and its activator p35 through the extracellular-signal-regulated kinase and protein kinase A pathways during retinoic-acid mediated neuronal differentiation in human neuroblastoma SK-N-BE(2)C cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519841.RAAZS82eYvLhNBMZr0cPIBVSWnFZMrHQnatI_uthYZDr0130_provenance.
NP519846.RABQfknlMfUg0Ssg-ygIqmkmdIuu1qFsKlS2SdY9g6ZXc130_assertion description "[Interestingly, we found a dramatic loss of ZAC expression in basal cell carcinoma, a neoplasm characterized by a relatively undifferentiated morphology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519846.RABQfknlMfUg0Ssg-ygIqmkmdIuu1qFsKlS2SdY9g6ZXc130_provenance.
NP519860.RAACshdHoDYKfTjV43LjEEkYaAB5tzNjBv34NqTTYFFjQ130_assertion description "[Analysis of mutations in the XPD gene in a patient with brittle hair.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519860.RAACshdHoDYKfTjV43LjEEkYaAB5tzNjBv34NqTTYFFjQ130_provenance.
NP519874.RAAynHR3hKZWcFUwIupraE5mhZdXuKqaiFil391RC_17I130_assertion description "[Chga mice displayed extreme phenotypic changes, including: (a) decreased chromaffin granule size and number; (b) elevated BP; (c) loss of diurnal BP variation; (d) increased left ventricular mass and cavity dimensions; (e) decreased adrenal catecholamine, neuropeptide Y (Npy), and ATP contents; (f) increased catecholamine/ATP ratio in the chromaffin granule; and (g) increased plasma catecholamine and Npy levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519874.RAAynHR3hKZWcFUwIupraE5mhZdXuKqaiFil391RC_17I130_provenance.
NP519885.RABz6sY007IB-B0zVphlNBchjeL3XChQICA3dXY-YIWBA130_assertion description "[TWEAK (Tumor necrosis factor like WEAK inducer of apoptosis) is highly expressed by different immune cells and triggers multiple cellular responses, including control of angiogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519885.RABz6sY007IB-B0zVphlNBchjeL3XChQICA3dXY-YIWBA130_provenance.
NP519892.RADW1JeXQlugN3FuX64p3yXHOWLCmcQHLd0yTRt5koCoI130_assertion description "[MITF mutations results in an abnormal melanocyte development and lead to Waardenburg syndrome type 2 (WS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519892.RADW1JeXQlugN3FuX64p3yXHOWLCmcQHLd0yTRt5koCoI130_provenance.
NP519911.RAAH0YA2Xhkw8TrE2UMHxHCBxkrxzpdmWPvRpnQXKqxSQ130_assertion description "[Importantly, shRNA targeting SFRP2 may provide a new approach to preventing the formation of HS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519911.RAAH0YA2Xhkw8TrE2UMHxHCBxkrxzpdmWPvRpnQXKqxSQ130_provenance.
NP519920.RAALyvgusuDkXk_UxrkLPG_DHJ3SNdtoYfmfHIY2x2vLc130_assertion description "[Instead, the recently discovered st types were overrepresented among isolates from patients with ARF (3 of 7) and AGN (9 of 16) (P < 0.01) compared to isolates from subjects with tonsillitis and from healthy carriers (10 of 57 and 16 of 90, respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519920.RAALyvgusuDkXk_UxrkLPG_DHJ3SNdtoYfmfHIY2x2vLc130_provenance.
NP519923.RAByUV3IXG49j-LV9-vkCdZ8_vSNy4vuAiX8FsGR7hNOM130_assertion description "[In the present study, the possible implication of the CTLA-4 gene as a risk factor for UC in the Iranian population was investigated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519923.RAByUV3IXG49j-LV9-vkCdZ8_vSNy4vuAiX8FsGR7hNOM130_provenance.
NP519947.RAD2K1ekO73rGEjumKKCfjnzrJHaScwfTKZ1k4YHxQFNg130_assertion description "[We describe the waxing and waning of a pituitary mass over 20 months in association with a PROP1 mutation that is predicted to lead to complete loss of function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519947.RAD2K1ekO73rGEjumKKCfjnzrJHaScwfTKZ1k4YHxQFNg130_provenance.
NP519956.RACk6BFO_H2PyHuf5tP6J7rpWWFmBJrBuS8U22XQ1z23A130_assertion description "[Immunization of HLA-DR3 mice with p2340 in CFA elicited EAT (infiltration index of 1 to 2) in eight of nine mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519956.RACk6BFO_H2PyHuf5tP6J7rpWWFmBJrBuS8U22XQ1z23A130_provenance.
NP519974.RAD5LKYKW5MU2MKUvwOTxbsO3B15j50DpbKS_Gxe1w8eY130_assertion description "[The mammalian K2P2.1 potassium channel (TREK-1, KCNK2) is highly expressed in excitable tissues, where it plays a key role in the cellular mechanisms of neuroprotection, anesthesia, pain perception, and depression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519974.RAD5LKYKW5MU2MKUvwOTxbsO3B15j50DpbKS_Gxe1w8eY130_provenance.
NP520005.RABczcut7n8mbMWBOuv3jdec9e22jCinZAtMmikL37LXY130_assertion description "[Endothelial dysfunction assessed by brachial artery flow-mediated dilation (FMD) is a marker for early atherosclerotic vascular disease and future cardiovascular events.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520005.RABczcut7n8mbMWBOuv3jdec9e22jCinZAtMmikL37LXY130_provenance.
NP520034.RACHSIFYD10EIOSg-WhUiJmNK6JQMLfm_KVDdYTpBVGJs130_assertion description "[This study also suggests that ASLNC22381 and ASLNC20819 may play important roles via their target IGF-1 in the recurrence and malignant progression of GBM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520034.RACHSIFYD10EIOSg-WhUiJmNK6JQMLfm_KVDdYTpBVGJs130_provenance.
NP520048.RABDEjyqsggGQNXuweCLL8idXHgXdzRkP0SNnUB4RJVI8130_assertion description "[Hereditary multiple exostoses (HME), an autosomal skeletal disorder characterized by cartilage-capped excrescences, has been ascribed to mutations in EXT 1 and EXT 2, two tumor suppressor-related genes encoding glycosyltransferases involved in the heparan sulfate proteoglycan (HSPG) biosynthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520048.RABDEjyqsggGQNXuweCLL8idXHgXdzRkP0SNnUB4RJVI8130_provenance.
NP520055.RAAVPIYoQxYIoJKF-LREywAT4BiJv7HoAocqWwz5U4omA130_assertion description "[Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520055.RAAVPIYoQxYIoJKF-LREywAT4BiJv7HoAocqWwz5U4omA130_provenance.
NP520057.RADJwVzm7WqkKrmG5i6lxz0FsYZ4nc-zHv_lVYZ6CsNDY130_assertion description "[Though, FAS rs1800682, FASL rs5030772, and FASL rs763110 polymorphisms were associated with the risk of breast cancer in the examined population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520057.RADJwVzm7WqkKrmG5i6lxz0FsYZ4nc-zHv_lVYZ6CsNDY130_provenance.
NP520061.RADKsJLgPQ7-fD2TLfyZRym5cdiQG4IIxDmc_NcXq7_5M130_assertion description "[Taken together, our results suggest that HO-1 has a critical role in the modulation of peritoneal fibrosis, and, more important, the suppression of EMT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520061.RADKsJLgPQ7-fD2TLfyZRym5cdiQG4IIxDmc_NcXq7_5M130_provenance.
NP520062.RAC357NadCo_byz7RYfD-L7z1fdEFlzd2g8ItmiznZQdg130_assertion description "[After adjustment for multiple comparisons and age, smoking, body mass index, hypertension, hyperlipidemia and diabetes, two related to inflammation [a val640leu polymorphism in the P-selectin gene (OR=1.63, 95% CI 1.22-2.17, P=0.001) and a C582T polymorphism in the interleukin-4 gene (OR=1.40, 95% CI 1.13-1.73, P=0.003)] were found to be independent predictors of thrombo-embolic stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520062.RAC357NadCo_byz7RYfD-L7z1fdEFlzd2g8ItmiznZQdg130_provenance.
NP520082.RAClKsoxRpWOnvpVi0FE3L_wfkbS-niD-KFVeVCoIoggk130_assertion description "[Ablation of the Sam68 RNA binding protein protects mice from age-related bone loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520082.RAClKsoxRpWOnvpVi0FE3L_wfkbS-niD-KFVeVCoIoggk130_provenance.
NP520091.RAAPsbyE-NOtxSVlvauQKnXGRCWp3ayj4SlUt6qafRHUw130_assertion description "[Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520091.RAAPsbyE-NOtxSVlvauQKnXGRCWp3ayj4SlUt6qafRHUw130_provenance.
NP520103.RABiWs7IpbrGgAeqmg6_V7BmqK6wyrgdKxyz36tIxMUHE130_assertion description "[IL-6(-174) genotype and 3-year GHbA1c associated significantly with BOP and PD>or=4 mm, subjects with the GG genotype of the IL-6(-174) exhibiting more severe periodontal disease than those with the GC/CC genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520103.RABiWs7IpbrGgAeqmg6_V7BmqK6wyrgdKxyz36tIxMUHE130_provenance.
NP520119.RABK4wezaJWu_4Im0EN28l2WGYLI5_-zfSE7QpPGQBR8k130_assertion description "[To investigate whether CAG repeat expansion or mutations in the DNA polymerase gamma (POLG) gene could predispose to peripheral neuropathy or lactic acidosis, we have sequenced part of the second exon of the DNA polymerase gamma gene, containing the CAG repeat, of 59 drug-treated HIV-infected patients, 11 of whom experienced drug-induced neuropathy, and 3 of whom died from lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520119.RABK4wezaJWu_4Im0EN28l2WGYLI5_-zfSE7QpPGQBR8k130_provenance.
NP616295.RACXYzvKiDTBGhUWfF8ToCEdqRofPeNEbLcYFTzPmHUN4130_assertion description "[Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616295.RACXYzvKiDTBGhUWfF8ToCEdqRofPeNEbLcYFTzPmHUN4130_provenance.
NP42633.RAiCt5AaF-S7t2Y20q4gAjSNL_-yHbnHZ2MKwELGY8dj4130_assertion description "[Allele G of the G1246A HCRTR2 polymorphism was significantly associated with CH (FE OR 1.58, CI 95% 1.27-1.95; RE OR 1.55 (1.14-2.12)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42633.RAiCt5AaF-S7t2Y20q4gAjSNL_-yHbnHZ2MKwELGY8dj4130_provenance.
NP42636.RAgcRATT8dcWVqyArINoyJKq-0ISZuNZMzfXysuhwvmTs130_assertion description "[Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42636.RAgcRATT8dcWVqyArINoyJKq-0ISZuNZMzfXysuhwvmTs130_provenance.
NP42637.RAnzSdxdb2EJUAlnCRnQeD5assqxNVgyiDIUETmwZImXU130_assertion description "[ Our results show a significant association between the (-909T/C) preprohypocretin polymorphism and sudden onset of sleep in Parkinson disease. However, we could not demonstrate any interaction between the Taq IA and (-909T/C) polymorphisms with respect to the occurrence of sudden onset of sleep, suggesting that multiple genetic factors may contribute to the pathogenesis of this phenomenon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42637.RAnzSdxdb2EJUAlnCRnQeD5assqxNVgyiDIUETmwZImXU130_provenance.
NP42638.RAixkqdlKvvL1tOqvz-TIzf7mT-561yuLp8g9bp3WfXPA130_assertion description "[ Types of beta-thalassemia mutation and coinheritance of alpha-thalassemia in the patient who has at least one allele of the mild beta-thalassemia genotype are predictive for the clinical severity of the disease. However, a mild clinical symptom in some patients with betao/beta+-thalassemia or betao-thalassemia/Hb E who do not have a detectable alpha-thalassemia haplotype and no linkage with XmnI++ suggests that there are other confounding factors responsible for the severity differences of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42638.RAixkqdlKvvL1tOqvz-TIzf7mT-561yuLp8g9bp3WfXPA130_provenance.
NP42644.RAkrMcSUEX4y6zGXDSwvg6tfiXDulaz3JATfE8XsQX35E130_assertion description "[ Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42644.RAkrMcSUEX4y6zGXDSwvg6tfiXDulaz3JATfE8XsQX35E130_provenance.
NP42647.RApz04fASfM9onWop4CXikjuXGcbRYan0rYq6sDtPGYbE130_assertion description "[ beta-thalassemia mutations of CD41/42, CD17, CD71/72, IVS-II-654 had no influence on Hb F levels, but (G)Gamma-158(C-->T) had a strong association with moderately increased Hb F levels in beta-thalassemia heterozygotes in the Guangxi area of China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42647.RApz04fASfM9onWop4CXikjuXGcbRYan0rYq6sDtPGYbE130_provenance.
NP42657.RApF_O9_bgXavne9rSVfZwYZ3mlVmmlCheOnPPfO9pn5s130_assertion description "[The frequencies of the variants found in this study confirms that the hemoglobin disorders are a public health problem in Venezuela, emphasizing the importance of instituting a national program of screening for hemoglobinopathies throughout the country, c]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42657.RApF_O9_bgXavne9rSVfZwYZ3mlVmmlCheOnPPfO9pn5s130_provenance.
NP42661.RAipvZ7ZZKpPxLJcyRsMdnNoDm-YrC8bBb3mMra5lFlGU130_assertion description "[Sickle cell disease (SCD) is an inherited autosomal recessive disorder of the beta-globin chain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42661.RAipvZ7ZZKpPxLJcyRsMdnNoDm-YrC8bBb3mMra5lFlGU130_provenance.
NP42662.RAjqctW6qwIVrddYRvWfDQQGR57KsP1mpGH2abuorOev4130_assertion description "[Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Recncavo region of Bahia, Brazil.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42662.RAjqctW6qwIVrddYRvWfDQQGR57KsP1mpGH2abuorOev4130_provenance.
NP42666.RAv8a9OT9mzek4UKNG91UAqIGSz8FCd2gdxcqjfaWtcz8130_assertion description "[A number of common mutations in the hemoglobin beta (HBB) gene cause beta-thalassemia, a monogenic disease with high prevalence in certain ethnic groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42666.RAv8a9OT9mzek4UKNG91UAqIGSz8FCd2gdxcqjfaWtcz8130_provenance.
NP42670.RAuZTmplePEJCgDb34BFq4ddzsFdCulM6SOBkEEJbeu3E130_assertion description "[The Xmn1 polymorphic site 5' to the (G)gamma gene and its correlation to the (G)gamma:(A)gamma ratio, age at first blood transfusion and clinical features in beta-thalassemia patients from Western Iran.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42670.RAuZTmplePEJCgDb34BFq4ddzsFdCulM6SOBkEEJbeu3E130_provenance.
NP42676.RArDMbjVGWUGivejE8ekUyli1i5wivMMDbY0KGNPgrZ0s130_assertion description "[ Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42676.RArDMbjVGWUGivejE8ekUyli1i5wivMMDbY0KGNPgrZ0s130_provenance.
NP42688.RAqhXDksMgMPLmgnItuW4SbMuZzVwoWNBuaPPhWFqsCPE130_assertion description "[Clustering of malaria treatment failure (TF) in Daraweesh: hints for host genetic susceptibility to TF with emphasis on immune-modulating SNPs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42688.RAqhXDksMgMPLmgnItuW4SbMuZzVwoWNBuaPPhWFqsCPE130_provenance.
NP42689.RAgdJ52lBgYQFzkX7LDELRivIB18YVFBKUJqRoWSy0ZqY130_assertion description "[ Our findings suggest that the genetic variants of the TIM-1 but not the TIM-3 gene contribute to asthma susceptibility in this African-American population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42689.RAgdJ52lBgYQFzkX7LDELRivIB18YVFBKUJqRoWSy0ZqY130_provenance.
NP42692.RAty_-5ONuC39zwa7sMrtY9p19GhoBxfu7ltSfgLJqOco130_assertion description "[Potential impact of a single nucleotide polymorphism in the hyaluronan synthase 1 gene in Waldenstrom's macroglobulinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP42692.RAty_-5ONuC39zwa7sMrtY9p19GhoBxfu7ltSfgLJqOco130_provenance.

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