Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP147202.RAeaPo1Tv_Z4afHBu8DDBaIdqpcIP8VigBmc30xnDk6QM130_assertion description "[MEF2A is a candidate for chronic diaphragmatic hernia; it maps to chromosome 15.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147202.RAeaPo1Tv_Z4afHBu8DDBaIdqpcIP8VigBmc30xnDk6QM130_provenance.
- NP147205.RAfkSTS33fdI6tTd-ptIMp915QxTS8D-ih4ePLIKCW5cE130_assertion description "[insertion/deletion polymorphism may be associated with persistent pulmonary hypertension in newborns with congenital diaphragmatic hernia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147205.RAfkSTS33fdI6tTd-ptIMp915QxTS8D-ih4ePLIKCW5cE130_provenance.
- NP147207.RAaS7HVbS_4SiVV3R7ZxOY5AW9h2k_tpLhPSIYVN4oVL0130_assertion description "[TIMP-2 reactivity in capillaries and fibroblasts was decreased in congenital diaphragmatic hernia lungs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147207.RAaS7HVbS_4SiVV3R7ZxOY5AW9h2k_tpLhPSIYVN4oVL0130_provenance.
- NP147208.RAeFJaFHDJkkzJq0zXcFNN0OUwoJJmRZnFjTOwIrjR62Y130_assertion description "[The observed decrease in pulmonary expression of iNOS in patients with CDH suggests a potential role in the pathogenesis of pulmonary hypertension in newborns with congenital diaphragmatic hernia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147208.RAeFJaFHDJkkzJq0zXcFNN0OUwoJJmRZnFjTOwIrjR62Y130_provenance.
- NP147211.RAXhWStXbNpawp7EDv38wukVOBwveG1g7c1kAzhidrxA0130_assertion description "[Patients with severe lupus nephritis showed a high accumulation of IL-18 within glomeruli in association with the presence of plasmacytoid dendritic cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147211.RAXhWStXbNpawp7EDv38wukVOBwveG1g7c1kAzhidrxA0130_provenance.
- NP147212.RAV96r6AQIGW-nIznAqeTedQztK959vYQJXeRjZy230X8130_assertion description "[interleukin-18 production is increased in patients with lupus nephritis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147212.RAV96r6AQIGW-nIznAqeTedQztK959vYQJXeRjZy230X8130_provenance.
- NP147224.RAX16qVcjFHSwvchuO1VeROGJU_41vaGEI0C12f9Qw3IE130_assertion description "[Results indicate that patients with active lupus nephritis exhibit B cell abnormalities that are consistent with intensive germinal center activity, are driven via CD154-CD40 interactions, and may be involved in the production of autoantibodies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147224.RAX16qVcjFHSwvchuO1VeROGJU_41vaGEI0C12f9Qw3IE130_provenance.
- NP147226.RATQi-linGd8iRNyq2onj0fNi0Rfc50tw1KXmViP119nk130_assertion description "[electron dense C4d (complement 4d) deposition in peritubular capillaries was observed in most Lupus Nephritis patients [complement 4d]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147226.RATQi-linGd8iRNyq2onj0fNi0Rfc50tw1KXmViP119nk130_provenance.
- NP147227.RAX5P7z_h3RSLOdse_wjzSs_4DXFMKX4gCejt4b-I-lH4130_assertion description "[Immunodetection of glomerular C4d deposition in renal biopsy samples could be a convenient method of identifying patients at risk of thrombotic microangiopathy in lupus nephritis [complement C4d].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147227.RAX5P7z_h3RSLOdse_wjzSs_4DXFMKX4gCejt4b-I-lH4130_provenance.
- NP147228.RAR2J4DMVX_KmRTY2QRqFmmMc-_nnXDYCKbZjGQkoCpyM130_assertion description "[Activated caspase-3-positive cells were present in glomeruli of 88.2% of lupus nephritis cases, observed in the glomerular tuft and cellular and fibrocellular crescents ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147228.RAR2J4DMVX_KmRTY2QRqFmmMc-_nnXDYCKbZjGQkoCpyM130_provenance.
- NP147248.RASpZFdgtq8b1t0rASEnaDqjS_Y3cMLIMmvm3igQD2rAw130_assertion description "[Our findings suggest that risk of glomerular microthrombosis in lupus nephritis is attributable, at least in part, to an epistatic effect of PAI-1 and FGB genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147248.RASpZFdgtq8b1t0rASEnaDqjS_Y3cMLIMmvm3igQD2rAw130_provenance.
- NP147254.RARBbJQ_HI-mWmPxEMmlijAoehui_XEUq_X16stl0HicY130_assertion description "[The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147254.RARBbJQ_HI-mWmPxEMmlijAoehui_XEUq_X16stl0HicY130_provenance.
- NP147256.RAZIZxFdEZRowfxIotNRBLGutjDK96JYK-LTR74Iiilms130_assertion description "[growth disorders in this group of children might be due to a defect in a DNA region regulating expression of the growth hormone receptor and insulin-like growth factor 1 genes or genes involved in their regulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147256.RAZIZxFdEZRowfxIotNRBLGutjDK96JYK-LTR74Iiilms130_provenance.
- NP147258.RAZO7K_8WqkLmj_70kRWyWymCw9zlWFypCUN3pa9Da-tI130_assertion description "[May be involved in metabolic detoxification in drug-induced osteomalacia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147258.RAZO7K_8WqkLmj_70kRWyWymCw9zlWFypCUN3pa9Da-tI130_provenance.
- NP147262.RAToROTScNOxq1TaZSXYM48yIs_VwbAMDH_4mV2mu9AkM130_assertion description "[Results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to ABCB11 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147262.RAToROTScNOxq1TaZSXYM48yIs_VwbAMDH_4mV2mu9AkM130_provenance.
- NP147275.RAZDBeb2G9hjbWLDgjwlHW83xY_AmsLWtwXTPFwh9sD8s130_assertion description "[Intrahepatic cholestasis of pregnancy is associated with blunted responses of SHBG to oral estrogen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147275.RAZDBeb2G9hjbWLDgjwlHW83xY_AmsLWtwXTPFwh9sD8s130_provenance.
- NP147277.RAYc1_8VIdQf2E8urjv6oOJYs9LBpDBUu2WC7hAfX75l0130_assertion description "[The Alu I polymorphism in exon 8 of ESR2 may be associated with the susceptibility of intrahepatic cholestasis of pregnancy in Chengdu.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147277.RAYc1_8VIdQf2E8urjv6oOJYs9LBpDBUu2WC7hAfX75l0130_provenance.
- NP147278.RAZBTa4O3ID4Auk3BcpeP6v-rvmXst-ln8Xf-TJd3NRFk130_assertion description "[Mutations in codon 156 of K10, i.e/, R156P, R156H were found in epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147278.RAZBTa4O3ID4Auk3BcpeP6v-rvmXst-ln8Xf-TJd3NRFk130_provenance.
- NP147280.RAdP_kDOEJEONEfN7oUTxwjk9Svs67TkEnXWqYV9tn2L8130_assertion description "[bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147280.RAdP_kDOEJEONEfN7oUTxwjk9Svs67TkEnXWqYV9tn2L8130_provenance.
- NP147292.RAU4vyIZw7_vWWH5ZyQcjCMKfMxu4YIanmdKKt1WPbnow130_assertion description "[The existence of mutations in the tyrosine kinase domain of the EGFR gene in a small subset of synovial sarcomas suggests that only few patients may profit from the tyrosine kinase inhibitor therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147292.RAU4vyIZw7_vWWH5ZyQcjCMKfMxu4YIanmdKKt1WPbnow130_provenance.
- NP147297.RAYBKCEj-2mCWc8GZWAgD0GNvVSJZM-bALtGgXVl7rlbg130_assertion description "[coexistence of fusions with SSX1 and SSX2 in synovial sarcomas ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147297.RAYBKCEj-2mCWc8GZWAgD0GNvVSJZM-bALtGgXVl7rlbg130_provenance.
- NP147300.RAeMMUX31etEGp5krjEjANeWEMsVOEE7madxE7oPaV4ps130_assertion description "[demonstrate differentially expressed genes for the 2 major gene fusion variants in SS, chromosome 18 synovial sarcoma (SS18)/SSX1 and SS18/SSX2, and thereby suggest that these result in different downstream effects ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147300.RAeMMUX31etEGp5krjEjANeWEMsVOEE7madxE7oPaV4ps130_provenance.
- NP147306.RAePyjdkSCtAIU6cFJ1qjmRuNw5ox1MYQzau_bCVZ4iDM130_assertion description "[Crk adaptor protein is required for the sustained phosphorylation of c-Met-docking protein Grb2-associated binder 1 (Gab1) in response to HGF, leading to the enhanced cell motility of human synovial sarcoma cell lines SYO-1, HS-SY-II, and Fuji.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147306.RAePyjdkSCtAIU6cFJ1qjmRuNw5ox1MYQzau_bCVZ4iDM130_provenance.
- NP147309.RAXp3EtyPMhGiBnEgJMi_AnymR1XgMMxNNEmC1p1B1wVQ130_assertion description "[E-cadherin mRNA expression in synovial sarcoma was associated with reduced Snail expression level ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147309.RAXp3EtyPMhGiBnEgJMi_AnymR1XgMMxNNEmC1p1B1wVQ130_provenance.
- NP147310.RAbuuznmKOdmg2ITQY0OFLQmWU8J8s6gi8XReqmqZaiPs130_assertion description "[A synovial sarcoma of classic morphology contained a novel t (20; X) SS18L1 (strong homology to SS18 on Ch20)/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147310.RAbuuznmKOdmg2ITQY0OFLQmWU8J8s6gi8XReqmqZaiPs130_provenance.
- NP147311.RAeyi9OpX6_PJKiipq8AFAEKhU4yl4jRwr7DC8yFTX4Rs130_assertion description "[Findings showing a complex cryptic rearrangement that gives rise to the characteristic SYT-SSX2 fusion gene in a monophasic synovial sarcoma patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147311.RAeyi9OpX6_PJKiipq8AFAEKhU4yl4jRwr7DC8yFTX4Rs130_provenance.
- NP147313.RAQ5-pVQvNsWj1dKWYnvx7NLivfY353KztQzaNkgbxnfs130_assertion description "[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." NP147313.RAQ5-pVQvNsWj1dKWYnvx7NLivfY353KztQzaNkgbxnfs130_provenance.
- NP147315.RAWPq_KoZDvAm21uUq9oB83lKSUoBSAhScV1IF5cWkGOI130_assertion description "[Epidermal growth factor receptor (a potential therapeutic target) and SALL2 stained most cases of synovial sarcoma; staining was significantly less common among other tested sarcomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147315.RAWPq_KoZDvAm21uUq9oB83lKSUoBSAhScV1IF5cWkGOI130_provenance.
- NP147318.RAXuRRNzsGKQzOKuTRNGHzxvj26Z05Hg_LLjCspqsvb1c130_assertion description "[The presence of increased levels of HER2/neu in synovial sarcoma is associated with a more favorable clinical course.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147318.RAXuRRNzsGKQzOKuTRNGHzxvj26Z05Hg_LLjCspqsvb1c130_provenance.
- NP147319.RAdJNqm26aIB3kpB8SZmIr98lHqZ28LDPKtd45yjS8fH0130_assertion description "[induction of claudin7 expression by ELF3 appears critical to the formation of the epithelial structures in biphasic synovial sarcoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147319.RAdJNqm26aIB3kpB8SZmIr98lHqZ28LDPKtd45yjS8fH0130_provenance.
- NP147321.RAZK2Ehwdreb6nVAcTVcW5DLfEhTN8_KZNUkkjYm_8Rv8130_assertion description "[FZD10 transactivation causes the activation of the Dvl-Rac1-JNK pathway and is associated with the development/progression of synovial sarcomas ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147321.RAZK2Ehwdreb6nVAcTVcW5DLfEhTN8_KZNUkkjYm_8Rv8130_provenance.
- NP147324.RAYPOZypSt6uZFibihz3nCBmvamd2hrnWyVqBm5AfKtC4130_assertion description "[The PROM2 gene was shown to effectively separate these two tumor (chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147324.RAYPOZypSt6uZFibihz3nCBmvamd2hrnWyVqBm5AfKtC4130_provenance.
- NP147326.RATojTX_WpXtyRtyZgV8C-MiEeBZqTKh02v_lCElz8B5w130_assertion description "[The MAL2 gene was shown to effectively separate these two tumor (chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147326.RATojTX_WpXtyRtyZgV8C-MiEeBZqTKh02v_lCElz8B5w130_provenance.
- NP147329.RAQxUX6hqjplJERLCgQpPUVmlgzdxulPSmJxMQDe9OJnY130_assertion description "[S100A1 immunodetection is potentially useful for the differential diagnosis between chromophobe renal cell carcinoma and oncocytoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147329.RAQxUX6hqjplJERLCgQpPUVmlgzdxulPSmJxMQDe9OJnY130_provenance.
- NP147343.RAfUut8zplLR470iZrT7cW3usVqDGlxxjgfpV8BQL0y9o130_assertion description "[decrease in activity is associated with testicular cancer ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147343.RAfUut8zplLR470iZrT7cW3usVqDGlxxjgfpV8BQL0y9o130_provenance.
- NP147345.RARDdw5Xk2BrBoFHm-KC3OZEabbNZ1T3GMEtsYpsZPgBs130_assertion description "[XPA, ERCC1 and XPF DNA repair protein expression is reduced in testis neoplasms ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147345.RARDdw5Xk2BrBoFHm-KC3OZEabbNZ1T3GMEtsYpsZPgBs130_provenance.
- NP147348.RAczL1XnhXgo4Cp_S5uM6o3JTUoppq8iDGRdxEdKhS9tc130_assertion description "[Absence of GST-M1 leaves more glutathione as substrate for the co-expressed GST-P1.genotyping may be a step towards a more individualized treatment of patients with metastatic testicular cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147348.RAczL1XnhXgo4Cp_S5uM6o3JTUoppq8iDGRdxEdKhS9tc130_provenance.
- NP147352.RAVJBE_ytQIG4mPGgrrg-ZrUbmhKCAc2XDTWrrDungPB4130_assertion description "[increased expressions of 5-LOX and 12-LOX were detected in testicular cancer tissues ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147352.RAVJBE_ytQIG4mPGgrrg-ZrUbmhKCAc2XDTWrrDungPB4130_provenance.
- NP147355.RARLX8FZ67veADwMh4R1hi1_0B2dAN0thQEr8mn1vFtbE130_assertion description "[Mutations in MYO7A is associated with Usher syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147355.RARLX8FZ67veADwMh4R1hi1_0B2dAN0thQEr8mn1vFtbE130_provenance.
- NP147356.RAZthW3540PLU6yj_G5A7K6N2whSse19A3EYT9G_XRiSU130_assertion description "[Missense mutations in CDH23 have been associated with presbycusis and nonsyndromic prelingual hearing loss (DFNB12), whereas null alleles cause the majority of Usher syndrome (Usher 1D).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147356.RAZthW3540PLU6yj_G5A7K6N2whSse19A3EYT9G_XRiSU130_provenance.
- NP147357.RAfnVi_pQSdiHqMUzU-tE42ZZb9daSbR6rfGx-y393oMY130_assertion description "[Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147357.RAfnVi_pQSdiHqMUzU-tE42ZZb9daSbR6rfGx-y393oMY130_provenance.
- NP147369.RAUvGI_UIn-N_iyRkM9O6IjF1fpEdeilLHNTV9TxazZT4130_assertion description "[study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147369.RAUvGI_UIn-N_iyRkM9O6IjF1fpEdeilLHNTV9TxazZT4130_provenance.
- NP147372.RAdzKE9RHQQUr9OJemZMvUYs5SRwJwLURjYvQdLMfbHWo130_assertion description "[a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147372.RAdzKE9RHQQUr9OJemZMvUYs5SRwJwLURjYvQdLMfbHWo130_provenance.
- NP147374.RAYQdxEvAPyj7gucJHFcA68vrFJrer8aG2Uzap38wHVdI130_assertion description "[PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147374.RAYQdxEvAPyj7gucJHFcA68vrFJrer8aG2Uzap38wHVdI130_provenance.
- NP147377.RAR5CNuzVKqHyBnZfkRitlQo-_1zUI9fVxrbqtQNH4B5c130_assertion description "[A novel D458V mutation in the USH1G PDZ binding motif causes atypical Usher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147377.RAR5CNuzVKqHyBnZfkRitlQo-_1zUI9fVxrbqtQNH4B5c130_provenance.
- NP147378.RATRH_KzPGffEfgzXTYIc2CmpQiDPlwk3Mn7eUk60F6SI130_assertion description "[Individuals with TRPM6 mutations have abnormal renal magnesium excretion/causes hypomagnesemia with secondary hypocalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147378.RATRH_KzPGffEfgzXTYIc2CmpQiDPlwk3Mn7eUk60F6SI130_provenance.
- NP147381.RAZbBgWMiIzaWMYKE3NIvKkeUuSMjxZLF1QWDUvl6ZNOo130_assertion description "[The glial cell missing gene, GCMB, encodes a transcription factor, which is a master regulator of parathyroid development/expression is upregulated in abnormal parathyroid glands of hyperparathyroidism and decreases in response to hypocalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147381.RAZbBgWMiIzaWMYKE3NIvKkeUuSMjxZLF1QWDUvl6ZNOo130_provenance.
- NP147384.RAWib-OvvFsZzbb5_bhW4pmM2jtbca5go6oq_NIPuFr70130_assertion description "[The frequency of occurrence of 1858T allele was 2.5% in sporadic idiopathic hypoparathyroidism and 1.3% in the control alleles thus, the present study reveals that 1858T allele is rare (1.3%) in Asian Indians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147384.RAWib-OvvFsZzbb5_bhW4pmM2jtbca5go6oq_NIPuFr70130_provenance.
- NP147387.RAQuZJtJnrvYBVFlNhDuXxyisgij5hgKhkIUAsNs6CtnI130_assertion description "[In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147387.RAQuZJtJnrvYBVFlNhDuXxyisgij5hgKhkIUAsNs6CtnI130_provenance.
- NP147388.RAWIKZSFkqG8XuHFDMWFwoYJMjUC620i9Sxi-nEdozZiM130_assertion description "[A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147388.RAWIKZSFkqG8XuHFDMWFwoYJMjUC620i9Sxi-nEdozZiM130_provenance.
- NP147392.RAZzr5brqy-UooaFLGkIdgzTyJhCURDozNeK13LRSKexI130_assertion description "[Although GCM2 mutations appear to be an uncommon cause of isolated hypoparathyroidism, the wide variety of GCM2 polymorphisms suggests that variant alleles may have a role in determining parathyroid function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147392.RAZzr5brqy-UooaFLGkIdgzTyJhCURDozNeK13LRSKexI130_provenance.
- NP147394.RASKFH5gaKhuKMufePwBeuPKzUGbJui6skkXTey5ZfBJo130_assertion description "[in patients with sporadic idiopathic hypoparathyroidism, neither the clinical manifestations nor the biochemical indexes are related to the occurrence of mutations or single nucleotide polymorphisms in the PTH gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147394.RASKFH5gaKhuKMufePwBeuPKzUGbJui6skkXTey5ZfBJo130_provenance.
- NP147398.RAY9y2og4_b8OeY7_4ecNp8Pg2jHW7Hm8zKDZBJ7dbrwM130_assertion description "[The d32-CCR5 polymorphism played a significant role in the progression of primary IgA nephropathy, with the nl/nl genotype being an independent protective factor for late progression towards ESRF/dialysis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147398.RAY9y2og4_b8OeY7_4ecNp8Pg2jHW7Hm8zKDZBJ7dbrwM130_provenance.
- NP147401.RAf4bO1WREN8R4Lw7jX65uUr6WkDrg4BfuU5bWTGMgNY8130_assertion description "[In comparison with controls, the frequency of -1, 082*G alleles was lower in IgA nephropathy and the frequencies of -592*C and -819*C were lower in focal segmental glomerulosclerosis, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147401.RAf4bO1WREN8R4Lw7jX65uUr6WkDrg4BfuU5bWTGMgNY8130_provenance.
- NP147405.RAVVtf--DqRIXVe-Ui-YIEddTzRJUA1SKCIgogFFZx8d0130_assertion description "[Activity of alpha2, 6-sialyltransferase and its gene expression in peripheral B lymphocytes in patients with IgA nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147405.RAVVtf--DqRIXVe-Ui-YIEddTzRJUA1SKCIgogFFZx8d0130_provenance.
- NP147409.RAcWXE-yL-0t4sIGRyesT4k65P1bSSajsWeHClMiKKmgw130_assertion description "[an imbalance of glomerular alpha2 (IV) and alpha5 (IV) chain expression occurred in IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147409.RAcWXE-yL-0t4sIGRyesT4k65P1bSSajsWeHClMiKKmgw130_provenance.
- NP147411.RATsZrjZbpO4gTp7xAOyn2XrcnDGOffAtaYBzpewe-D2A130_assertion description "[The AC/CC genotype of this polymorphism may be associated with an increased severity of proteinuria, suggesting that this polymorphism may play a significant role in the progression of IgA nephropathy in Japanese children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147411.RATsZrjZbpO4gTp7xAOyn2XrcnDGOffAtaYBzpewe-D2A130_provenance.
- NP147412.RAfqCSRQUDv-D-D-Vi2wIIrqqdmYh14fC5C7riexcTMyY130_assertion description "[CD80 and CD86 activate T cells in IgA nephropathy, CD80/CD86 expressions correlated with renal function at the time of renal biopsy, and monocyte/macrophages and tubular epithelial cells act as antigen presenting cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147412.RAfqCSRQUDv-D-D-Vi2wIIrqqdmYh14fC5C7riexcTMyY130_provenance.
- NP147413.RAa_b0mXda_-U5qwxIoMZqSL7fTnrKOefZDwo-cyjEsj8130_assertion description "[Megsin 2093T-2180C haplotype at the 3'untranslated region is associated with poor renal survival in Korean IgA nephropathy patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147413.RAa_b0mXda_-U5qwxIoMZqSL7fTnrKOefZDwo-cyjEsj8130_provenance.
- NP147423.RAc6b-6cvnwS5h2UvM1SLNpmnqbm7dUXfsbyIwc_5UhVA130_assertion description "[Glomerular deposition of C5b-9 may participate in the development of glomerulosclerosis in primary immunoglobulin A nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147423.RAc6b-6cvnwS5h2UvM1SLNpmnqbm7dUXfsbyIwc_5UhVA130_provenance.
- NP147425.RAbbCw1Q2oNF3Cw1GViAggi2ZSKCIPMZbSjthV7Emvg4Y130_assertion description "[meta-analysis on the recent previous reports on the ACE gene polymorphism and its correlation to progression of IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147425.RAbbCw1Q2oNF3Cw1GViAggi2ZSKCIPMZbSjthV7Emvg4Y130_provenance.
- NP147426.RAXy26-xUfTcQ04fa5a6xACdP0voCISt_hxGAfwCiSHB8130_assertion description "[In this meta-analysis, ACE insertion/deletion polymorphism is associated with IgA nephropathy/role of ACE polymorphism in Asians is different from that of Caucasians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147426.RAXy26-xUfTcQ04fa5a6xACdP0voCISt_hxGAfwCiSHB8130_provenance.
- NP147434.RAXuYFRYhI-TnSfGD1V6d1YROtLsd4_8n4aTH4B8R3tRA130_assertion description "[The lack of correlation between VEGF and HIF-1alpha expression suggests HIF-independent VEGF production in IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147434.RAXuYFRYhI-TnSfGD1V6d1YROtLsd4_8n4aTH4B8R3tRA130_provenance.
- NP147441.RATWueqLo9nmTGjJ5070P5dY8VDWb4Xo11y4U1-H_tyq0130_assertion description "[an imbalance of AT1R and AT2R activity in mesangial cells following exposure to pIgA plays a significant pathogenetic role in the inflammatory injury in IgA nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147441.RATWueqLo9nmTGjJ5070P5dY8VDWb4Xo11y4U1-H_tyq0130_provenance.
- NP147443.RAX8tQ65KDVVk5GP3AjQcTZOISVMDp6nFVxPREyDeHs30130_assertion description "[Our results suggest that TGF-beta1 gene Arg (25) -- > Pro, TNFalpha gene G-308A, and IL-6 gene G-174C polymorphisms are not risk factors or markers of progression in Caucasian patients with IgA nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147443.RAX8tQ65KDVVk5GP3AjQcTZOISVMDp6nFVxPREyDeHs30130_provenance.
- NP147445.RATRkloThg9zVEOWgYFKeSR3BwfJ91gTeqDLVebw5wEdE130_assertion description "[activated glomerular AGT expression is likely involved in elevated local ang II production and, thereby, may contribute to increased TGF-beta production and development of glomerular injury in IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147445.RATRkloThg9zVEOWgYFKeSR3BwfJ91gTeqDLVebw5wEdE130_provenance.
- NP147449.RAXV4XkMJGOn4qkZ3u6_iriZMHO_eOP3wI7agWdvriTvg130_assertion description "[Findings suggest the promising use of urinary NGAL as an early biomarker for tubulointerstitial injury of IgA nephropathy and perhaps other types of renal disease in general.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147449.RAXV4XkMJGOn4qkZ3u6_iriZMHO_eOP3wI7agWdvriTvg130_provenance.
- NP147451.RASefJ7JVbmy7lG-YrN0CstQDqHXhZ0CyBv7oUnLFonBk130_assertion description "[CD80 and CD86 activate T cells in IgA nephropathy, CD80/CD86 expressions correlated with renal function at the time of renal biopsy, and monocyte/macrophages and tubular epithelial cells act as antigen presenting cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147451.RASefJ7JVbmy7lG-YrN0CstQDqHXhZ0CyBv7oUnLFonBk130_provenance.
- NP147452.RAT0or8-cph6hmSQk5dyE35YX_rXR7qN2_ItxMPBa2Btk130_assertion description "[variants of IL5RA and TNFRSF6B may predispose to sporadic IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147452.RAT0or8-cph6hmSQk5dyE35YX_rXR7qN2_ItxMPBa2Btk130_provenance.
- NP147453.RAZavJ9r6dO_QliWFqOR0XFjhvK_NSjsZ-VxmRJj9yqWg130_assertion description "[findings indicate that glomerular production of adrenomedullin was decreased in patients with IgA nephropathy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147453.RAZavJ9r6dO_QliWFqOR0XFjhvK_NSjsZ-VxmRJj9yqWg130_provenance.
- NP147458.RARXjsiOJUdVRNVdI3TeXSfqTVF72WjUmYDwJwRk1Rb6c130_assertion description "[chondromodulin-I has a pivotal role in maintaining valvular normal function by preventing angiogenesis that may lead to valvular heart diseases ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147458.RARXjsiOJUdVRNVdI3TeXSfqTVF72WjUmYDwJwRk1Rb6c130_provenance.
- NP147459.RAaMvBpcggR_kCZ451Yo_lR8JxaBtsJueOMJGCv7E-MmI130_assertion description "[SR-PSOX/CXCL16 may be involved in CD8+ T cell recruitment through VLA-4 activation and stimulation of IFN- [gamma]production by CD8+ T cells during inflammatory valvular heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147459.RAaMvBpcggR_kCZ451Yo_lR8JxaBtsJueOMJGCv7E-MmI130_provenance.
- NP147465.RAU7PmHZuToCYCmiH25cwuIi039Jaizo8PVW7V0jkcWUM130_assertion description "[Comparative genomic hybridization and immunohistochemical assessment of EGFR, PTEN, p53, and MIB-1 expression in 13 oligodendrogliomas, one oligoastrocytoma and 23 high-grade astrocytomas is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147465.RAU7PmHZuToCYCmiH25cwuIi039Jaizo8PVW7V0jkcWUM130_provenance.
- NP147466.RAfQybQ6XofYgFL5M_cYesRg9E9G6G0bqXtegX_8GJHow130_assertion description "[While a mutation was not detected in the coding region of the SHREW1 gene in oligodendrogliomas, SHREW1 expression restoration resulted in suppression of cell adhesion and migration, thus, SHREW1 inactivation may lead to oligodendroglial tumorigenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147466.RAfQybQ6XofYgFL5M_cYesRg9E9G6G0bqXtegX_8GJHow130_provenance.
- NP147467.RAX_JOsaPjGO3hfnw5YOmNy3FLyaYa5BUdFee84QaDNac130_assertion description "[These data point to ET-1 as a possible survival factor for oligodendrogliomas via ET (B) -R activation and suggest that ET (B) -R-specific antagonists might constitute a potential therapeutic alternative for oligodendrogliomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147467.RAX_JOsaPjGO3hfnw5YOmNy3FLyaYa5BUdFee84QaDNac130_provenance.
- NP147477.RAT0fGEYWILMJv0bF-PCWHq6VVkGa6IOiA90D53P7E7Z0130_assertion description "[Comparative genomic hybridization and immunohistochemical assessment of EGFR, PTEN, p53, and MIB-1 expression in 13 oligodendrogliomas, one oligoastrocytoma and 23 high-grade astrocytomas is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147477.RAT0fGEYWILMJv0bF-PCWHq6VVkGa6IOiA90D53P7E7Z0130_provenance.
- NP147484.RAa1ZhwINhRxhi96UYIQVJCoAfDo8Z7Y6lnZ7ix0qQCAA130_assertion description "[Polymorphisms in ERCC2 are associated with the development of oligodendrogliomas ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147484.RAa1ZhwINhRxhi96UYIQVJCoAfDo8Z7Y6lnZ7ix0qQCAA130_provenance.
- NP147496.RAeYfBAwDDg14fhriBRwqCR60Elgm_llLCnd0nEt4QRT0130_assertion description "[Lipoxygenase-3 (ALOXE3) and 12 (R) -lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147496.RAeYfBAwDDg14fhriBRwqCR60Elgm_llLCnd0nEt4QRT0130_provenance.
- NP147500.RAZERMzkvzZndNqo4KlR2DyRbkZShRw4w9v2_eMG9s_1I130_assertion description "[The presence of metabolic syndrome X in women with previous gestational diabetets is associated with high levels of C-reactive protein ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147500.RAZERMzkvzZndNqo4KlR2DyRbkZShRw4w9v2_eMG9s_1I130_provenance.
- NP147501.RAQzhImXo-AN5IyeEBuNpb2ow5vQ8U2i-_u5HdVbl3Akc130_assertion description "[Serum adiponectin levels are associated with interleukin 10 levels nd may be associated with metabolic syndrome X > ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147501.RAQzhImXo-AN5IyeEBuNpb2ow5vQ8U2i-_u5HdVbl3Akc130_provenance.
- NP147503.RAZmovtaWItSZOjVUBQ1Hl_w95kBA0Epwut6g9-t3iJdg130_assertion description "[Function in homeostatic control of glucose, lipid, and energy metabolism/may be involved in disorders covering metabolic X syndrome, such as insulin resistance, obesity, type 2 diabetes, and coronary artery disease/. ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147503.RAZmovtaWItSZOjVUBQ1Hl_w95kBA0Epwut6g9-t3iJdg130_provenance.
- NP147509.RAcynzQ-GQ0QSG4rqW8qu8jDh0Ehbl9_NYWk9Lv4tX764130_assertion description "[Fetuin-A levels are higher in obese children with non-alcoholic fatty liver disease, and are related to insulin resistance and to features of metabolic syndrome X in both cross-sectional and longitudinal analyses ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147509.RAcynzQ-GQ0QSG4rqW8qu8jDh0Ehbl9_NYWk9Lv4tX764130_provenance.
- NP147511.RAapQQDcF8C0VqO0EPTrDhKnKUTe_AzwL-wNBdzIsnt3U130_assertion description "[Sedentary alanine carriers more frequently had metabolic syndrome than sedentary patients with theproline12Pproline genotype in metabolic syndrome X in type 1 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147511.RAapQQDcF8C0VqO0EPTrDhKnKUTe_AzwL-wNBdzIsnt3U130_provenance.
- NP147519.RAb1f9nlMfLJL75JLNfGT30-gWoWgOhrQF_15bgnFuIlM130_assertion description "[CD36 deficiency is accompanied by (1) hyperlipidemia and increased remnant lipoproteins, (2) impaired glucose metabolism based upon insulin resistance, and (3) mild hypertension ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147519.RAb1f9nlMfLJL75JLNfGT30-gWoWgOhrQF_15bgnFuIlM130_provenance.
- NP147522.RAVwUb9BpnGhFmBuTBYretaGq1cqsnynmpWau-C6V0_Og130_assertion description "[Endotoxin-lipoprotein complex formation as a factor in atherogenesis: associations with hyperlipidemia and with lecithin: cholesterol acyltransferase activity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147522.RAVwUb9BpnGhFmBuTBYretaGq1cqsnynmpWau-C6V0_Og130_provenance.
- NP147525.RAZ-o4K-q5xradMSenSo99_GypPBlYV_nASMfZpmShfbs130_assertion description "[Increased serum adiponectin might be the reflection of a compensatory response to nephrotic state characterized by massive proteinuria, hypoalbuminemia and hyperlipidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147525.RAZ-o4K-q5xradMSenSo99_GypPBlYV_nASMfZpmShfbs130_provenance.
- NP147535.RAa3lr4XTZgt9MLeQmjCeBzl13CJFKShgbR3SqWK8Cb7Q130_assertion description "[Oncostatin M directly lowers the plasma triglycerides in hyperlipidemia by stimulating the transcription of ACSL3/5 in the liver.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147535.RAa3lr4XTZgt9MLeQmjCeBzl13CJFKShgbR3SqWK8Cb7Q130_provenance.
- NP147538.RAQvH-Rj_sSf_-otE6XeTkCgtGMljX2tK_aV06Yj9jv-4130_assertion description "[The increased expressions of RANTES and CCR5 mRNAs in renal transplant recipients with hyperlipidemia might be involved in chronic allograft nephropathy due to hyperlipidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147538.RAQvH-Rj_sSf_-otE6XeTkCgtGMljX2tK_aV06Yj9jv-4130_provenance.
- NP147540.RAUJOanEjVOhNeghq4M0JsgnvSkG7wlCjQcTp8rmZ11Hg130_assertion description "[Hyperlipidemia, exhibited as a high free fatty acid level, modulates GLUT4 gene expression in cardiac muscle via a complex mechanism including GLUT4 and the PPARgamma genes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147540.RAUJOanEjVOhNeghq4M0JsgnvSkG7wlCjQcTp8rmZ11Hg130_provenance.
- NP147541.RAdU4heHZhmmeofDgXGxYmj1M_H3AyXzK5F-24BMuYPX4130_assertion description "[Oncostatin M directly lowers the plasma triglycerides in hyperlipidemia by stimulating the transcription of ACSL3/5 in the liver.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147541.RAdU4heHZhmmeofDgXGxYmj1M_H3AyXzK5F-24BMuYPX4130_provenance.
- NP147545.RAeHrO-aX3gU0nRuy-f6fp_SRtYQqKN1dxFncnsepbCs4130_assertion description "[VEGF-A/TGF-beta1 polymorphisms could be genetic markers of the process of urinary tract infection and vesicoureteral reflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147545.RAeHrO-aX3gU0nRuy-f6fp_SRtYQqKN1dxFncnsepbCs4130_provenance.
- NP147546.RATSHl-yjH3G2hGATWnnyfZwHuH9KySCAMjXpBMONQ1OY130_assertion description "[Individuals with the transforming growth factor-beta1 -509CC and 869TT genotype may have increased susceptibility to vesicoureteral reflux ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147546.RATSHl-yjH3G2hGATWnnyfZwHuH9KySCAMjXpBMONQ1OY130_provenance.
- NP147550.RAcg59QdNmgJSB72pMxq9sIrFuhRWuO6J2tCZ57B8lLlw130_assertion description "[Uroplakin III mRNA is up-regulated to a greater extent in vesicoureteral reflux than in control exfoliated urinary cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147550.RAcg59QdNmgJSB72pMxq9sIrFuhRWuO6J2tCZ57B8lLlw130_provenance.
- NP147555.RAcszT6wMElYyH1IFkbXxlyFlNwhgdVbp9bMDJknZj2sE130_assertion description "[Heterozygous mutations in the COL1A2 gene encoding the alpha2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147555.RAcszT6wMElYyH1IFkbXxlyFlNwhgdVbp9bMDJknZj2sE130_provenance.
- NP147557.RAULO-EaLv5hrCPuNY3LB1JwcGRrBZCYEqE2Xx0pa4y1c130_assertion description "[Application of 4 bp insertion in 3'UTR of COL1A1 gene to detect " null allele " confirmed clinical diagnosis in 9 among 17 OI patients with osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147557.RAULO-EaLv5hrCPuNY3LB1JwcGRrBZCYEqE2Xx0pa4y1c130_provenance.
- NP147558.RAeB94eDa80xD58AOnNml4CPpnHDyx5oM6JFontPzErvY130_assertion description "[43 novel mutations in COL1A1 and COL1A2 are found in patients with type II osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147558.RAeB94eDa80xD58AOnNml4CPpnHDyx5oM6JFontPzErvY130_provenance.
- NP147560.RAXjqV7SSL6E7DR5behCsZRlqUg2iidpvPrvAdYnOA_CM130_assertion description "[results together relate the position-specific effects of Gly -- > Ser mutations to the local structural stability of collagen and lend insight into the etiology of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147560.RAXjqV7SSL6E7DR5behCsZRlqUg2iidpvPrvAdYnOA_CM130_provenance.
- NP147561.RAWZYpAidul9S2p9EKRjp3ohuD7qH_b3bpYg2siQQ5n8U130_assertion description "[abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147561.RAWZYpAidul9S2p9EKRjp3ohuD7qH_b3bpYg2siQQ5n8U130_provenance.
- NP147570.RARmt_lFG2BJRIkX1OPaBcDTJJ5sxDTrXt6Oewdsomg4Q130_assertion description "[Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147570.RARmt_lFG2BJRIkX1OPaBcDTJJ5sxDTrXt6Oewdsomg4Q130_provenance.
- NP147580.RARfpVX0dx4xjnQQ0XAVnEaMnD-O_8AwD2v_eGUgPxJQk130_assertion description "[A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147580.RARfpVX0dx4xjnQQ0XAVnEaMnD-O_8AwD2v_eGUgPxJQk130_provenance.