Nanopublications LDF server

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

• NP147584.RAQVkqFQmGcM9-3d3GJCEp6_055CPvWkasb8liYpsceeE130_assertion description "[Heterozygous mutations toward the 3'end of MYH7 cause Laing-type early-onset distal myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147584.RAQVkqFQmGcM9-3d3GJCEp6_055CPvWkasb8liYpsceeE130_provenance.
• NP147585.RAUY8zJKFsQFJF9C6GmZK7S3LFSA5R4Io50z1k7cc3HGo130_assertion description "[Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147585.RAUY8zJKFsQFJF9C6GmZK7S3LFSA5R4Io50z1k7cc3HGo130_provenance.
• NP147588.RAWA0p09mL02UlV7QeF03WASlQrlOj-iRUZt_lIgRX4Qk130_assertion description "[The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria/fibroblast cells have dysmorphic nuclei containing numerous blebs and lobulations, which progressively accumulate as cells age in culture.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147588.RAWA0p09mL02UlV7QeF03WASlQrlOj-iRUZt_lIgRX4Qk130_provenance.
• NP147591.RARrS6U8ZPDpPeXGbmXpribj6kRIjs5yn8DHMM-55mkRM130_assertion description "[point mutations in Hutchinson-Gilford progeria syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147591.RARrS6U8ZPDpPeXGbmXpribj6kRIjs5yn8DHMM-55mkRM130_provenance.
• NP147595.RAVx-16Ip4msh51BNh4ivL5H1z4wB-HvDdUhxcR7mLGrY130_assertion description "[LMNA mutation was studied in Hutchinson-Gilford progeria/does not occur in Wiedemann-Rautenstrauch progeroid syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147595.RAVx-16Ip4msh51BNh4ivL5H1z4wB-HvDdUhxcR7mLGrY130_provenance.
• NP147599.RAXQSAI2kEIjrJB8WKzDUSMHYp74gCdcft308omtsECPU130_assertion description "[RNA interference (RNAi) knockdown of XPA in Hutchinson-Gilford progeria syndrome cells partially restored double-strand breaks repair as evidenced by Western blot analysis, immunofluorescence and comet assays ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147599.RAXQSAI2kEIjrJB8WKzDUSMHYp74gCdcft308omtsECPU130_provenance.
• NP147600.RAWdYA_4yLcahspAAwNh5mhtAbA6R-TITS4qOu91Y9-N4130_assertion description "[RNA interference (RNAi) knockdown of XPA in Hutchinson-Gilford progeria syndrome cells partially restored double-strand breaks repair as evidenced by Western blot analysis, immunofluorescence and comet assays ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147600.RAWdYA_4yLcahspAAwNh5mhtAbA6R-TITS4qOu91Y9-N4130_provenance.
• NP147605.RAZsmI-0b_Vp_2wmV30VjOhAoR0hv_gl5P_cbcvC-goFI130_assertion description "[Secretion levels of sIL-2R, IL-6, IL-8, IL-10, and TNF-alpha, but not IL-4 and IL-12, are elevated in activated T-cells in large granular lymphocytic leukemia associated with autoimmune disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147605.RAZsmI-0b_Vp_2wmV30VjOhAoR0hv_gl5P_cbcvC-goFI130_provenance.
• NP147607.RAS9d7MjlXb4RXM4W0VYRNzF8smsIbhwi3_Otn-PnDgkM130_assertion description "[significantly increased APRIL levels in sera of B cell chronic lymphoid leukemia (B-CLL) patients, indicating that APRIL promotes onset of B-1-associated neoplasms ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147607.RAS9d7MjlXb4RXM4W0VYRNzF8smsIbhwi3_Otn-PnDgkM130_provenance.
• NP147613.RAcLwEKKBse1OzG3PmMahN_1_gj5ix3vf2AW3WQ-A5P8M130_assertion description "[In lymphocytes obtained from healthy persons more t-PA and PAI-1 was detected than in lymphocytes from patients with chronic lymphoid leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147613.RAcLwEKKBse1OzG3PmMahN_1_gj5ix3vf2AW3WQ-A5P8M130_provenance.
• NP147620.RAaguaEiLktbJ9Mev5UbM32sOSclApBEKVC3eSd4DaqRk130_assertion description "[The interplay between Syk and ZAP-70 in thymocytes, certain T cells, and B-chronic lymphocytic leukemia cells will modulate the amplitude of antigen-mediated receptor signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147620.RAaguaEiLktbJ9Mev5UbM32sOSclApBEKVC3eSd4DaqRk130_provenance.
• NP147621.RAV4ttZW-BSx_-n_8d2kOAAwdW0Sxf41_G2_BmKMsZYf8130_assertion description "[FBXW7 mutation is associated with adult T-cell and B-cell acute lymphocytic leukemias ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147621.RAV4ttZW-BSx_-n_8d2kOAAwdW0Sxf41_G2_BmKMsZYf8130_provenance.
• NP147625.RAcQK6N8O5x0p6Vh8KhiRdIJcwIQOilPvPd9Ilf9LERAI130_assertion description "[Overexpression of TLR9 is associated with B-chronic lymphocytic leukemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147625.RAcQK6N8O5x0p6Vh8KhiRdIJcwIQOilPvPd9Ilf9LERAI130_provenance.
• NP147626.RAeg7OxUsuEVcttl4ugTJkcPHOTu1zRqdce87ckLBoCls130_assertion description "[CD38 plays a role in the progression of B-chronic lymphocytic leukemia and can be used as a prognostic marker ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147626.RAeg7OxUsuEVcttl4ugTJkcPHOTu1zRqdce87ckLBoCls130_provenance.
• NP147633.RAePgI9lRNcNIFId-lgrq-ywU3lT4WCiVqsiUdZqwlWYA130_assertion description "[CRP regulation of monocyte TF could contribute to the higher than expected atherosclerotic vascular disease seen in patients with inflammatory rheumatic disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147633.RAePgI9lRNcNIFId-lgrq-ywU3lT4WCiVqsiUdZqwlWYA130_provenance.
• NP147636.RAfG6MPNMU-Bp49fnJbxKVU56-5nS7KUbEH1ASatIdYHY130_assertion description "[HLA drb1 allele may contribute to the development of temporomandibular joint erosion in patient with various rheumatic diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147636.RAfG6MPNMU-Bp49fnJbxKVU56-5nS7KUbEH1ASatIdYHY130_provenance.
• NP147637.RARfP0aVabxabwkFodLFFwmnLf3PuKVjKoszX_yrLDRA0130_assertion description "[Th lymphocytes from the inflamed joint or gut tissue of patients with rheumatic diseases, Crohn's disease or ulcerative colitis expressed high levels of twist1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147637.RARfP0aVabxabwkFodLFFwmnLf3PuKVjKoszX_yrLDRA0130_provenance.
• NP147638.RASBkkeuu9_7RfOJSSafuu4ufQ3sTl0kjQ7u3fk25b4Aw130_assertion description "[When coexpressed with BLYS, APRIL forms active heterotrimeric molecules that circulate in the serum of patients with systemic immune-based rheumatic diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147638.RASBkkeuu9_7RfOJSSafuu4ufQ3sTl0kjQ7u3fk25b4Aw130_provenance.
• NP147641.RAbbz68SellxNryt6gzzbQ3ymUPp8Ng5wX2CrCnV-m2H8130_assertion description "[Data suggest that adipose tissue AKR1C3 expression may be affected by metabolic disease, and its levels are significantly reduced in response to diet-induced weight loss and correlate with leptin levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147641.RAbbz68SellxNryt6gzzbQ3ymUPp8Ng5wX2CrCnV-m2H8130_provenance.
• NP147656.RASdvQgcm6v6nUhzQIrOZsM8NfzqKpsuAyWsHKJAmJCmY130_assertion description "[direct regulation of hypoxia-inducible factor 1 alpha subunit stability by GSK-3 may influence physiological processes or pathophysiological situations such as metabolic diseases or tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147656.RASdvQgcm6v6nUhzQIrOZsM8NfzqKpsuAyWsHKJAmJCmY130_provenance.
• NP147660.RAbITlJHnA5JTD4-KIwFrSARsyrCqzv4kR4ajYRPlc-pc130_assertion description "[WFS1 is the major gene involved in Wolfram syndrome in Brazilian patients and most mutations are concentrated in exon 8 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147660.RAbITlJHnA5JTD4-KIwFrSARsyrCqzv4kR4ajYRPlc-pc130_provenance.
• NP147661.RAe5BWrPRs3fKfzRR4liqm3FM0U0sJeZF4IZGoJBJjudE130_assertion description "[A novel missense mutation in WFS1 was identified which caused Wolfram syndrome and may also be linked to autoimmune diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147661.RAe5BWrPRs3fKfzRR4liqm3FM0U0sJeZF4IZGoJBJjudE130_provenance.
• NP147663.RAaxlJnjfi5HxWveab60wW7FVDsQeJ65FGTNQi2gAVqlM130_assertion description "[Molecular analysis of WFS1 in seven families with Wolfram syndrome identified eight different mutations; one was a de novo mutation occurring independently in 2 families, whereas the remaining ones were inherited.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147663.RAaxlJnjfi5HxWveab60wW7FVDsQeJ65FGTNQi2gAVqlM130_provenance.
• NP147681.RAW8WPe0kHHaC2ycw5_uNW8MIr3qqXL3oITxKNbIDvJA0130_assertion description "[The Epidermal Growth Factor Receptor represent independents prognostic marker for intracranial ependymomas to identify patient subgroups with different risk profiles in further clinical investigations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147681.RAW8WPe0kHHaC2ycw5_uNW8MIr3qqXL3oITxKNbIDvJA0130_provenance.
• NP147682.RAVN8f_LaHPDIVwCbf2rR_Wq6cR0S4BxeQcypsHVuo_zs130_assertion description "[These results may indicate MGMT as a factor of chemoresistance to alkylating drugs in anaplastic ependymomas and support the uncertainties regarding the actual benefit of chemotherapy for patients with anaplastic ependymomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147682.RAVN8f_LaHPDIVwCbf2rR_Wq6cR0S4BxeQcypsHVuo_zs130_provenance.
• NP147689.RAQeY0uVrqSdzgyVVnhydRuvr2O3ocS-WTyeLn08bWEac130_assertion description "[This study report an case of ombination of infantile spasms, non-epileptic seizures and complex movement disorder on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147689.RAQeY0uVrqSdzgyVVnhydRuvr2O3ocS-WTyeLn08bWEac130_provenance.
• NP147690.RAZiGqJBVpvEdDQiimswl85xBA_1ssc0Q65qXkFw9msVQ130_assertion description "[The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats of ARX protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147690.RAZiGqJBVpvEdDQiimswl85xBA_1ssc0Q65qXkFw9msVQ130_provenance.
• NP147703.RAXSML0u9a7IYoYNcs6PfLsIp2BWk62cCsdJY03X7Tc_o130_assertion description "[Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms, myoclonic epilepsy, and nonspecific mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147703.RAXSML0u9a7IYoYNcs6PfLsIp2BWk62cCsdJY03X7Tc_o130_provenance.
• NP147705.RAS4Lyy2fffl_7FzmXSIwd_OdnL4upiYyp5LGT-NT0jR0130_assertion description "[8 SCN1A mutations from severe myoclonic epilepsy of infancy and 1 from West syndrome were characterized and their effect on the structure and function of the protein are discussed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147705.RAS4Lyy2fffl_7FzmXSIwd_OdnL4upiYyp5LGT-NT0jR0130_provenance.
• NP147709.RAehKZmjIahJv9GqEU-ZHcmDlqWStYPTNlURwWJRoX2DU130_assertion description "[the combination of either factor V Leiden or prothrombin G20210A and patent foramen ovale was associated with a 4.7-fold (95% CI = 1.4 to 16.1; P = 0.008) increased risk of cerebral ischemia in young patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147709.RAehKZmjIahJv9GqEU-ZHcmDlqWStYPTNlURwWJRoX2DU130_provenance.
• NP147710.RAdVJOHsRxcR-RudGawmS7_5HZ8y_61A651U53NDcqz54130_assertion description "[These results suggest that calmodulin plays a crucial role in the processes of Ca (2+) -induced neuronal cell death and the possibility that the blockage of calmodulin attenuates brain injury after cerebral ischemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147710.RAdVJOHsRxcR-RudGawmS7_5HZ8y_61A651U53NDcqz54130_provenance.
• NP147719.RARqlkbw4OIu9JqiSyy6Aiyw44Rxbrbzmv6AJM-IBsdh8130_assertion description "[C3a is acutely elevated after human ischemic stroke, C5a shows delayed elevations 7 to 14 days after cerebral ischemia, and sC5b-9 is acutely depressed after stroke/Complement 3a, c5a, and C5b-9) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147719.RARqlkbw4OIu9JqiSyy6Aiyw44Rxbrbzmv6AJM-IBsdh8130_provenance.
• NP147724.RAf4q-8An1P1TH_xpLbHoG8PtytuZDDWRqyQshmygT_9s130_assertion description "[caspase-3 was upregulated in a region-specific manner with marked activation in the selectively vulnerable hippocampal after cerebral ischemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147724.RAf4q-8An1P1TH_xpLbHoG8PtytuZDDWRqyQshmygT_9s130_provenance.
• NP147725.RAaOYny1j_CMLGq5JIo6odFZCZISi6Rr1fUgPU4EqKuUQ130_assertion description "[Promoting neuronal survival of GDNF might be related to the reduction of AIF nuclear translocation, indicating the high therapeutic potency of SeV/GDNF for cerebral ischemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147725.RAaOYny1j_CMLGq5JIo6odFZCZISi6Rr1fUgPU4EqKuUQ130_provenance.
• NP147726.RAcWLIsiizGB8TqVxxc9KngbV_qZnweiEJbdtTcM5PW4I130_assertion description "[PHD inhibitors preferentially bind to the active site of PHD2 and stabilize HIF activity, induce angiogenesis and protect against cerebral ischemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147726.RAcWLIsiizGB8TqVxxc9KngbV_qZnweiEJbdtTcM5PW4I130_provenance.
• NP147728.RAYHV0RpgEWl3XDJwgMgxQZWwQ-Yae3_JpvmKCy8nVrIM130_assertion description "[C3a is acutely elevated after human ischemic stroke, C5a shows delayed elevations 7 to 14 days after cerebral ischemia, and sC5b-9 is acutely depressed after stroke/Complement 3a, c5a, and C5b-9) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147728.RAYHV0RpgEWl3XDJwgMgxQZWwQ-Yae3_JpvmKCy8nVrIM130_provenance.
• NP147729.RAQscUnmGkJjoNyq9BN8klOfkuNwqnr377ii__uQ7VXo4130_assertion description "[This review focuses on the mechanisms by which anti-apoptotic Bcl-2 family members control the permeability of the mitochondrial membrane and influence other aspects of mitochondrial function after brain ischemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147729.RAQscUnmGkJjoNyq9BN8klOfkuNwqnr377ii__uQ7VXo4130_provenance.
• NP147733.RAVvkQeWknv6Yhn8l5-PfCKLHIzs86JKae8cpC6nu-Z8Y130_assertion description "[A diagnostic tool incorporating the values of matrix metalloproteinase 9, brain natriuretic factor, d-dimer, and S-100beta into a composite score was sensitive for acute cerebral ischemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147733.RAVvkQeWknv6Yhn8l5-PfCKLHIzs86JKae8cpC6nu-Z8Y130_provenance.
• NP147736.RAVNparQQt5MhfMyajIsto-8vP6EDBxnqo10P2qVv56Q0130_assertion description "[the combination of either factor V Leiden or prothrombin G20210A and patent foramen ovale was associated with a 4.7-fold (95% CI = 1.4 to 16.1; P = 0.008) increased risk of cerebral ischemia in young patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147736.RAVNparQQt5MhfMyajIsto-8vP6EDBxnqo10P2qVv56Q0130_provenance.
• NP147738.RAQ670K9UZVMuRruluBKARDlS6PFQNplztjPPlJcQ_Mqs130_assertion description "[We have elucidated a GGA3-dependent mechanism regulating BACE levels and beta-secretase activity/mechanism may explain increased cerebral levels of BACE and Abeta following cerebral ischemia and existing in AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147738.RAQ670K9UZVMuRruluBKARDlS6PFQNplztjPPlJcQ_Mqs130_provenance.
• NP147752.RAWQ2_ggI56mS8YGegbs2PhzJVCL3sv9LThdSQJcY0XlQ130_assertion description "[Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B/with mutations in EPM2A and EPM2B express similar clinical manifestation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147752.RAWQ2_ggI56mS8YGegbs2PhzJVCL3sv9LThdSQJcY0XlQ130_provenance.
• NP147754.RAc4p2nvttoCvQgIkXyhVH4YD_YuobYeQopVJHKOrZXRQ130_assertion description "[Results suggest that the altered subcellular localization of mutant proteins of the EPM2A and NHLRC1 genes could be one of the molecular bases of the Lafora disease phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147754.RAc4p2nvttoCvQgIkXyhVH4YD_YuobYeQopVJHKOrZXRQ130_provenance.
• NP147756.RART6I36-WaafO03b5aXngsDNCQIns3SovnKB6CAWlKGc130_assertion description "[results demonstrate a critical role of dimerization in Laforin function and suggest an important new dimension in protein phosphatase function and in molecular pathogenesis of Lafora's disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147756.RART6I36-WaafO03b5aXngsDNCQIns3SovnKB6CAWlKGc130_provenance.
• NP147760.RAeLgVW_6zzPNRb4jh9W8R4D0HHqtQ6wTRhY0LBumI5Ws130_assertion description "[DYRK1A is involved in nerve degeneration and that overexpression of this kinase may contribute to the early onset of these pathologies in Down syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147760.RAeLgVW_6zzPNRb4jh9W8R4D0HHqtQ6wTRhY0LBumI5Ws130_provenance.
• NP147763.RAZFRSiTH83_AMy38-YHk17aXxE5Gzs4uDmWovQqs9F4E130_assertion description "[VAPB is abundant in motor neurons and the P56S substitution causes aggregation of mutant VAPB in immobile tubular ER clusters, perturbs FFAT-motif binding, and traps endogenous VAP in mutant aggregates, which may cause motor neuron degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147763.RAZFRSiTH83_AMy38-YHk17aXxE5Gzs4uDmWovQqs9F4E130_provenance.
• NP147772.RAZo8D5ogEDeDeYSGlhcGgJ3zwn52qryuCY6D1SQ8FzTs130_assertion description "[The mucosa of esophagitis patients produced significantly greater amounts of IL-1beta and IL-6 compared with those of control patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147772.RAZo8D5ogEDeDeYSGlhcGgJ3zwn52qryuCY6D1SQ8FzTs130_provenance.
• NP147775.RAdQAzLfMVaNGvtyNNJpBbbjEpMJ11_LUvpp3cuYe1llA130_assertion description "[results implicate eotaxin-3 as a critical effector molecule for eosinophilic esophagitis and provide insight into disease pathogenesis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147775.RAdQAzLfMVaNGvtyNNJpBbbjEpMJ11_LUvpp3cuYe1llA130_provenance.
• NP147780.RAVUHK7mUU-dibQ1N_2qUXpv_1reoR90hXoowXJktMgm8130_assertion description "[novel splice variants observed in lymphoblastoid cells and muscle tissue of normal subjects and mulibrey nanism patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147780.RAVUHK7mUU-dibQ1N_2qUXpv_1reoR90hXoowXJktMgm8130_provenance.
• NP147794.RAe_7JxTV_HpSLZj4ndKPL3YobqwcoiYRFj_iCVf6_9xQ130_assertion description "[This review summarizes the role of the Gs-alpha protein in pseudohypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147794.RAe_7JxTV_HpSLZj4ndKPL3YobqwcoiYRFj_iCVf6_9xQ130_provenance.
• NP147795.RAd3Wqm3AZcgjs2t7cKelZAtGekhoI7mwuSdhCRVVzWQc130_assertion description "[Molecular analysis showed GNAS cluster imprinting defects in all pseudohypoparathyroidism type-Ib patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147795.RAd3Wqm3AZcgjs2t7cKelZAtGekhoI7mwuSdhCRVVzWQc130_provenance.
• NP147796.RAYjSkw3p8vZ5sUp7v0dodv-iaRcJwjKBl1OjmXtm0T04130_assertion description "[Familial and sporadic forms of Pseudohypoparathyroidism type IB have distinct GNAS imprinting patterns that occur through different defects in the imprinting mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147796.RAYjSkw3p8vZ5sUp7v0dodv-iaRcJwjKBl1OjmXtm0T04130_provenance.
• NP147797.RAWgV004Rh6wl1DE91qkr_jpugaIUkwKqB8Ce7h-fzZqM130_assertion description "[Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147797.RAWgV004Rh6wl1DE91qkr_jpugaIUkwKqB8Ce7h-fzZqM130_provenance.
• NP147799.RAbgqg3doR7GXxNGKB3Q-hb1w3kX6zLo9ndlQXnGJC2kc130_assertion description "[Polymorphisms of genes encoding G-protein beta3 subunit as risk factors for orthostatic hypotension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147799.RAbgqg3doR7GXxNGKB3Q-hb1w3kX6zLo9ndlQXnGJC2kc130_provenance.
• NP147809.RAQqOU9Q1714zJpXPcfmcYef45YdPzyVZLiThNIi_zLBo130_assertion description "[One polymorphism in GPR54 gene might be correlated with some cases of central precocious puberty, likely by changes in expression of the receptor ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147809.RAQqOU9Q1714zJpXPcfmcYef45YdPzyVZLiThNIi_zLBo130_provenance.
• NP147810.RAZ9v-vNLj46uI3dwk1GJ44_ScslmrfY7eDVVlgRCbfFA130_assertion description "[The predisposition to vasovagal syncope seems to be not associated with the GNB3 825T allele ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147810.RAZ9v-vNLj46uI3dwk1GJ44_ScslmrfY7eDVVlgRCbfFA130_provenance.
• NP147816.RAcIR7A8_fCU6YBv_n3rscPtL-Ot5GH9XdEclDGqDBWec130_assertion description "[The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3, 5, 3'-triiodothyronine toxicosis of McCune-Albright syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147816.RAcIR7A8_fCU6YBv_n3rscPtL-Ot5GH9XdEclDGqDBWec130_provenance.
• NP147830.RAZjp3MXw_YTcSBPDAK-gCvbLSm9AQsJP5XAHXrueasdg130_assertion description "[first crystal structure of recombinant erythrocyte pyruvate kinase and the biochemical characterization of eight mutants found in nonspherocytic hemolytic anemia patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147830.RAZjp3MXw_YTcSBPDAK-gCvbLSm9AQsJP5XAHXrueasdg130_provenance.
• NP147831.RARljxaa_NdGHd8Xb4hECF4KzW52c0cqcjQi6ZaHV6f-E130_assertion description "[Two new missense mutations in glucose-6-phosphate dehydrogenase gene associated with chronic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147831.RARljxaa_NdGHd8Xb4hECF4KzW52c0cqcjQi6ZaHV6f-E130_provenance.
• NP147843.RAWFVBbFIPkJ4y0nUamplr09dGySLYVrqEs2ZxIAAd4L4130_assertion description "[presence in blood serves as a diagnostic indicator of hemolytic anemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147843.RAWFVBbFIPkJ4y0nUamplr09dGySLYVrqEs2ZxIAAd4L4130_provenance.
• NP147845.RAdVfkiFJ_bA7uR1XFRKSAJT-W5zl-DMvf531ZSv-XGYc130_assertion description "[GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147845.RAdVfkiFJ_bA7uR1XFRKSAJT-W5zl-DMvf531ZSv-XGYc130_provenance.
• NP147849.RAS9cEd09tIZh7X7PfTQ08W7KfeCr-tuhzPp_sx-d7F2k130_assertion description "[Reduction of Nogo-B protein expression in thoracic aortic aneurysms is closely correlated to the formation of aneurysm and that Nogo-B may play a protective role in the pathological process of aneurysms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147849.RAS9cEd09tIZh7X7PfTQ08W7KfeCr-tuhzPp_sx-d7F2k130_provenance.
• NP147857.RATge8VWF7fxNb20o06NPEA4x8toDbP1vy-YDjDaB9itI130_assertion description "[Nutlin efficiently stabilized p53 and induced downstream p53 dependent transcription and apoptosis in liposarcoma cells with amplified MDM2 in vitro ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147857.RATge8VWF7fxNb20o06NPEA4x8toDbP1vy-YDjDaB9itI130_provenance.
• NP147862.RAe8vh0x6kOTzxikBbA_bweCBJNTMr45E3SILh2It36KE130_assertion description "[Neoplastic adipocytes in well-differentiated liposarcomas stained for STC1, but the frequency of STC-1-positive cells was lower in high-grade liposarcomas; STC1 may function as a " survival factor ", contributing to the maintenance of mature adipose tissue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147862.RAe8vh0x6kOTzxikBbA_bweCBJNTMr45E3SILh2It36KE130_provenance.
• NP147864.RAfWdE8OW7S-jBwXqNnPDcFODQy9h3_U8QWlRu_W9FDOs130_assertion description "[FUS-DDIT3 is a chimeric oncogene generated by the most common chromosomal translocation t (12; 16) (q13; p11) associated to liposarcomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147864.RAfWdE8OW7S-jBwXqNnPDcFODQy9h3_U8QWlRu_W9FDOs130_provenance.
• NP147869.RAWosu4Mf4P9uTaLxbOXzRu9AlmJAxTUlHXoubY-Z8g0U130_assertion description "[a SNAP29 mutation codes for a SNARE protein involved in intracellular trafficking and causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147869.RAWosu4Mf4P9uTaLxbOXzRu9AlmJAxTUlHXoubY-Z8g0U130_provenance.
• NP147875.RAVcZGy-ZR_5ZS2bU7DNNts-6LDGEIT2OCVdPwHnC3Kpg130_assertion description "[Genetic studies have revealed that K9 gene mutations are responsible for epodermolytic palmoplantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147875.RAVcZGy-ZR_5ZS2bU7DNNts-6LDGEIT2OCVdPwHnC3Kpg130_provenance.
• NP147880.RAeBhwuksXdFQ1OciJuhHVrjFPEvfnGkMk3FZGBMwq104130_assertion description "[the 46 aberrant amino acid residues of GJA1 associated with the frameshift mutant are, at least in part, responsible for the manifestation of palmoplantar keratoderma symptoms ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147880.RAeBhwuksXdFQ1OciJuhHVrjFPEvfnGkMk3FZGBMwq104130_provenance.
• NP147885.RARA98ZFBcAlYZ1g2dSTvbLds4o47VhqC6yB9vWKecYJc130_assertion description "[The study revealed no differences in mean concentration of serum sICAM-1 between patients with seasonal allergic rhinitis and seasonal asthma but significant increase of serum sICAM-1 level during natural allergen exposure in all patients was observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147885.RARA98ZFBcAlYZ1g2dSTvbLds4o47VhqC6yB9vWKecYJc130_provenance.
• NP147887.RAZ8FaSx9_vjIDczdihqQRuB1E8-JlHI8yAf30v2c-tRc130_assertion description "[Soluble HLA-C serum level is significantly increased in allergic rhinitis patients with pollen allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147887.RAZ8FaSx9_vjIDczdihqQRuB1E8-JlHI8yAf30v2c-tRc130_provenance.
• NP147888.RAfc0VNIn6RnU5x2SaWDGyuUKYq5KybiPrUTnt5W1iPH0130_assertion description "[Soluble HLA-B serum level is significantly increased in allergic rhinitis patients with pollen allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147888.RAfc0VNIn6RnU5x2SaWDGyuUKYq5KybiPrUTnt5W1iPH0130_provenance.
• NP147889.RAdEHhr5UOSLL85T4WA-VCiGm23kw6Y50I87_CiZ81Mq8130_assertion description "[Soluble HLA-A serum level is significantly increased in allergic rhinitis patients with pollen allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147889.RAdEHhr5UOSLL85T4WA-VCiGm23kw6Y50I87_CiZ81Mq8130_provenance.
• NP147894.RAfiS8nxivv2NQCOiK0Yo0l6viANvh4_lQLvWgBPqVTKs130_assertion description "[Inactivation of the SMARCB1/INI1 gene is associated with rhabdoid tumor ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147894.RAfiS8nxivv2NQCOiK0Yo0l6viANvh4_lQLvWgBPqVTKs130_provenance.
• NP147895.RAUf6VGSi9QEARllTMWZZivtrweO0_SW22bPEy5mGiqtI130_assertion description "[Immunohistochemical analysis of hSNF5/INI1 gene distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors by assessing loss of INI1 expression in rhabdoid tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147895.RAUf6VGSi9QEARllTMWZZivtrweO0_SW22bPEy5mGiqtI130_provenance.
• NP147896.RAQ81pt1oBOtFV4XcOmYed_bktbUJswR283JeOf8GH4Ck130_assertion description "[Lack of SMARCB1 expression may be associated with rhabdoid features/immunohistochemical result of the SMARCB1 expression is not an absolute diagnostic criteria for malignant rhabdoid tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147896.RAQ81pt1oBOtFV4XcOmYed_bktbUJswR283JeOf8GH4Ck130_provenance.
• NP147901.RAd5YrrGBnv5CassK_UIuNPRc5aWa6FGgivyB3SDUf9xE130_assertion description "[SMARCB1 may be a tumor suppressor gene for malignant rhabdoid tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147901.RAd5YrrGBnv5CassK_UIuNPRc5aWa6FGgivyB3SDUf9xE130_provenance.
• NP147904.RAWVAnbMWkUMQOnoRUIe-7dUiPGHdGgRGeI3j9Ic1k6B0130_assertion description "[results demonstrate that deletions and mutations of the INI1 gene can occur in rare composite rhabdoid tumors of adulthood ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147904.RAWVAnbMWkUMQOnoRUIe-7dUiPGHdGgRGeI3j9Ic1k6B0130_provenance.
• NP147908.RAVuBlNw7kJ80OHJf_tYVmslGrbVyRU2BbM1R8-MD_uTY130_assertion description "[balance between Polycomb group (PcG) silencing and SWI/SNF activation affects epigenetic control of the INK4b-ARF-INK4a locus in malignant rhabdoid tumors ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147908.RAVuBlNw7kJ80OHJf_tYVmslGrbVyRU2BbM1R8-MD_uTY130_provenance.
• NP147911.RAYogKO7fhH8gqMcg9qNcNUN0bu2E4xRZ_Y_St5P3Jbig130_assertion description "[Aberrant methylation of the RASSF1A promoter region may be of importance in the origin and progression of supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147911.RAYogKO7fhH8gqMcg9qNcNUN0bu2E4xRZ_Y_St5P3Jbig130_provenance.
• NP147912.RAWNtgKvR1gpCiRQATNNMUmzCu0l5GP5EVN3oXyISY-28130_assertion description "[Even though the role of osteopontin in the cytopathogenesis of atypical teratoid/rhabdoid tumor still needs to be determined, data support that overexpressed osteopontin is a potential diagnostic marker for atypical teratoid/rhabdoid tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147912.RAWNtgKvR1gpCiRQATNNMUmzCu0l5GP5EVN3oXyISY-28130_provenance.
• NP147916.RAU5O5amoVVTyL4FUJGvvzjrh63ASwjKPV8RrXVTI1BWU130_assertion description "[Elastin gene mutation results in an autosomal dominant form of cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147916.RAU5O5amoVVTyL4FUJGvvzjrh63ASwjKPV8RrXVTI1BWU130_provenance.
• NP147918.RAV_EQr6B0Lz0Gu-32Y56WXw_2qO2rh8Hsk9q1-xkhPXk130_assertion description "[Molecular pathways upstream and downstream of NF-kappaB in neurons are being elucidated and may provide novel targets for therapeutic intervention in various neurological disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147918.RAV_EQr6B0Lz0Gu-32Y56WXw_2qO2rh8Hsk9q1-xkhPXk130_provenance.
• NP147919.RAWlK8vzyHKI2f1-RSGzOV3PPvO3rzEZbkwzELapkrNB4130_assertion description "[FBP11 binding mechanism underlies the molecular pathology of severe neurological disorders, e.g., Rett syndrome and Huntington disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147919.RAWlK8vzyHKI2f1-RSGzOV3PPvO3rzEZbkwzELapkrNB4130_provenance.
• NP147925.RARjAqq2wr3HWY9ku1QmIeqfcbd6GNLOfIRVc5TUc-plE130_assertion description "[This review considers the role of the Fas-FasL system as a double-edged sword in the central nervous system: maintaining the immune suppressed status in normal brain and inducing neuronal cell death and inflammation in a variety of neurologic disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147925.RARjAqq2wr3HWY9ku1QmIeqfcbd6GNLOfIRVc5TUc-plE130_provenance.
• NP147932.RAYJDRLLuD77VCUdIM2R7Jwe7HRHMrjAqmC_l8XrYYFB4130_assertion description "[Upregulation of mmp-1 ia assiciated with neoplasm invasiveness in Hereditary nonpolyposis colorectal cancers ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147932.RAYJDRLLuD77VCUdIM2R7Jwe7HRHMrjAqmC_l8XrYYFB4130_provenance.
• NP147940.RAf0--O3jOyIbEbEfrhSd_UYe_tCPuXbCjAeNqP6sNX2U130_assertion description "[Higher expression of iNOS is associated with neoplasm invasiveness of retinoblastoma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147940.RAf0--O3jOyIbEbEfrhSd_UYe_tCPuXbCjAeNqP6sNX2U130_provenance.
• NP147941.RARm0KBsTBY0O9zGDqEmPsKkCiNN25D45dDz1-b_yIRUg130_assertion description "[the human IL-8 -251 A/T polymorphism and the polymorphisms in H pylori vacA gene are involved in limiting the infection outcome to gastritis and peptic ulcer or in favoring cancer onset in Iranian patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147941.RARm0KBsTBY0O9zGDqEmPsKkCiNN25D45dDz1-b_yIRUg130_provenance.
• NP147951.RAS3i-wIl65JPLrY-ydBTe8EZQOY95g2KIXMaMZJbhqZs130_assertion description "[MMP-9 is increased in tuberculous pleural effusions compared with transudates and malignant pleural effusions of lung cancer and is produced predominantly by epithelioid cells in the granulomas of tuberculous pleural tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147951.RAS3i-wIl65JPLrY-ydBTe8EZQOY95g2KIXMaMZJbhqZs130_provenance.
• NP147953.RAc8kk2XyytP1SzAOYvxzbg8EjpltVmRvX984146RGF6Q130_assertion description "[MN/CA9 gene expression was detected in 53/59 (89.8%) pleural effusions from cancer patients (15/16 breast cancers, 10/11 lung cancers, 4/4 ovary cancers, 2/3 colon-rectal cancers, 5/6 cancers of unknown site, 7/8 mesothelioma & 10/11 other cancers) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147953.RAc8kk2XyytP1SzAOYvxzbg8EjpltVmRvX984146RGF6Q130_provenance.
• NP147956.RAXrCKsW1AJqZAAvRKuibvyw9ATYH0d8pa7HsXATGgGsA130_assertion description "[RT-PCR for hMAM test was more sensitive than cytomorphology of breast cancer derived pleural effusion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147956.RAXrCKsW1AJqZAAvRKuibvyw9ATYH0d8pa7HsXATGgGsA130_provenance.
• NP147958.RAebZLRxnwCHvVjd2jsJUqH8Aoyoi6qyiQoyPeclmuWZc130_assertion description "[High level of vascular endothelial growth factor in hemorrhagic pleural effusion of cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147958.RAebZLRxnwCHvVjd2jsJUqH8Aoyoi6qyiQoyPeclmuWZc130_provenance.
• NP147959.RAWr7Q-deIdeSx-MXLH_HDYZNFmG3hudYI8PlVfTYAPTk130_assertion description "[increased expression of soluble Fas in pleural effusion associated with lung cancer ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147959.RAWr7Q-deIdeSx-MXLH_HDYZNFmG3hudYI8PlVfTYAPTk130_provenance.
• NP147964.RAY31C-KZPFF-owdmEfaNoxk9WoHmY3AnWkh98RGefS8k130_assertion description "[Genetic mechanism to explain atypical histological diffuse forms of congenital hyperinsulinism due to mutations of ABCC8.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147964.RAY31C-KZPFF-owdmEfaNoxk9WoHmY3AnWkh98RGefS8k130_provenance.
• NP147965.RAbBFtkrgX51v1wvBT0u_02fJE-nrQL2pMReZAzjYBdms130_assertion description "[We present a term large-for-gestation neonate with congenital hyperinsulinism, who was found to have a novel sporadic missense mutation in the ABCC8 gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147965.RAbBFtkrgX51v1wvBT0u_02fJE-nrQL2pMReZAzjYBdms130_provenance.
• NP147967.RAZExxpKnECs3wHxGDOD7EINGhcvlXTREQYkdqZ7f5JsA130_assertion description "[In the largest study performed to date on GCK in children with congenital hyperinsulinism, GCK mutations were found only in medically responsive children who were negative for ABCC8 and KCNJ11 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147967.RAZExxpKnECs3wHxGDOD7EINGhcvlXTREQYkdqZ7f5JsA130_provenance.
• NP147972.RARoFAJOH5ZuCNF87f2usA1n3UoEVsXCO8kWVhTfDJpQ8130_assertion description "[Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147972.RARoFAJOH5ZuCNF87f2usA1n3UoEVsXCO8kWVhTfDJpQ8130_provenance.
• NP147974.RAe3FhKMAdfUvOsCAp0do-dM5fr4afBT5xnecfLvlEOwg130_assertion description "[Expression of cytoplasmic claudin-1 was decreased in acute acalculous cholecystitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147974.RAe3FhKMAdfUvOsCAp0do-dM5fr4afBT5xnecfLvlEOwg130_provenance.
• NP147978.RARWXDgFzj0Hy3NWmkioVZIzmmrht1TEt3DPKDNHYz0vc130_assertion description "[ER stress causes dissociation between GRP78/BiP and Wnt, an interaction essential for its correct posttranslational processing ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147978.RARWXDgFzj0Hy3NWmkioVZIzmmrht1TEt3DPKDNHYz0vc130_provenance.
• NP147981.RAYmMHytdjO3Z4WF3sB14ao9iR6iOsJRiGigLCPD8oUV4130_assertion description "[A PAH mutational analysis in phenylketonuria patients in two large old order Amish settlements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147981.RAYmMHytdjO3Z4WF3sB14ao9iR6iOsJRiGigLCPD8oUV4130_provenance.
• NP147982.RAQZDehKZXmbrhZK98ghf76hSoyHbgxzL82G5V0JfjPhk130_assertion description "[Two novel amino acid subsittutions, L249P in exon 7 and F402L in exon 12 and one nucleotide substitution 912T > C in intron 8 of the PAH gene in Phenylketonuria families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147982.RAQZDehKZXmbrhZK98ghf76hSoyHbgxzL82G5V0JfjPhk130_provenance.
• NP147986.RAUy76khAhrZlq01BGJJgrJhJicDGX9AGlnXhuhxy8i5Y130_assertion description "[Three PKU-causing single exon deletions PAH are present in around 2-3% of Polish phenylketonuria patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147986.RAUy76khAhrZlq01BGJJgrJhJicDGX9AGlnXhuhxy8i5Y130_provenance.

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