Nanopublications LDF server

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

• assertion description "[Monitoring BCR-ABL in the treatment of chronic myeloid leukemia by polymerase chain reaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Finally, the relationship between the two common forms of BCR/ABL, the P190 and P210 configurations, and different disease phenotypes, like CML and Philadelphia (Ph1)-chromosome positive acute lymphoblastic leukemia (ALL), needs to be clarified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Fusion transcription in 16 year old girl with chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstream the breakpoints in chronic myeloid leukemia using next generation sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Thus, our study provides support for STAT5 as a potential target downstream of BCR-ABL for CML treatment and helps establish the concept of targeting STAT5 by decoy ODN as a novel therapy approach for imatinib-resistant CML.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[The hallmark of chronic myeloid leukemia (CML) is the BCR-ABL fusion gene, which is usually formed as a result of the t(9;22) translocation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[One-tube multiplex RT-PCR of BCR-ABL transcripts in analysis of patients with chronic myeloid leukaemia and acute lymphoblastic leukaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We investigated this possibility by studying peripheral blood leukocytes from normal individuals and various hematopoietic cell lines for the presence and expression of the p210 and the p190 types of the BCR-ABL gene associated with chronic myeloid leukemia (CML) and acute lymphoblastic leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[The changes of expression of mutant BCR-ABL-positive alleles after cessation of tyrosine kinase inhibitor treatment were examined in 19 patients with chronic myeloid leukemia harboring different mutations in a longitudinal follow-up.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[In this review, we will discuss current targeted therapies of CML using BCR-ABL kinase inhibitors, with a focus on the importance of developing a targeted therapy of CML through identification of target genes in CML LSCs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Emergence of BCR-ABL kinase domain mutations associated with newly diagnosed chronic myeloid leukemia: a meta-analysis of clinical trials of tyrosine kinase inhibitors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Tyrosine kinase inhibitors such as imatinib can effectively target the BCR-ABL oncoprotein in a majority of patients with chronic myeloid leukemia (CML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[However, the broad haemopoietic transformation spectrum of the murine v-abl protein and the association of the abl oncogene with human chronic myelogenous leukaemia suggest that some special structure-function relationship for the abl protein might hold for the growth regulation of blood forming cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Reconsideration of BCR-ABL protein flow cytometric immunobead assay: how potent to diagnose and monitor chronic myeloid leukemia?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[BCR-ABL mutations in chronic myeloid leukemia treated with tyrosine kinase inhibitors and impact on survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[To obtain polyclonal antibodies against recombinant proteins recognizing Bcr domain and fusion region of Bcr-Abl and analyze the patterns of intracellular distribution of Bcr and Bcr-Abl proteins in K562 cells of chronic myelogenous leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Chronic myelogenous leukemia (CML) and some acute lymphoblastic leukemias (ALL) are caused by the t(9;22) chromosome translocation, which produces the constitutively activated BCR/ABL tyrosine kinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[The epigenetic silencing of miR-23a led to derepression of BCR/ABL expression, and consequently contributes to CML development and progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Philadelphia chromosome-positive leukemias, including chronic myeloid leukemia and B-cell acute lymphoblastic leukemia (B-ALL), are driven by the oncogenic BCR-ABL fusion protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We have investigated the involvement of the p53 tumor suppressor gene and RAS family proto-oncogenes in BCR/ABL-negative chronic myeloproliferative disorders (CMPD), including nine cases of myelosclerosis with myeloid metaplasia, four polycythemia vera, 10 essential thrombocythemia, one juvenile chronic myeloid leukemia, and eight BCR/ABL-negative chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Around 40-50% of patients with chronic myeloid leukemia (CML) who achieve a stable complete molecular response (CMR; undetectable breakpoint cluster region-Abelson leukemia gene human homolog 1 (BCR-ABL1) mRNA) on imatinib can stop therapy and remain in CMR, at least for several years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[In the Philadelphia chromosome (Ph1) of chronic myelogenous leukemia (CML), the c-abl gene on chromosome 9 is translocated to bcr on chromosome 22.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Low BCR-ABL expression levels in hematopoietic precursor cells enable persistence of chronic myeloid leukemia under imatinib.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[In conclusion, we postulate that BCR-ABL1 kinase-mediated inhibition of UNG2 contributes to accumulation of point mutations responsible for TKI resistance causing the disease relapse, and perhaps also other point mutations facilitating malignant progression of CML.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Collectively, our findings suggest that ICSBP antagonizes BCR/ABL by down-regulation of bcl-2 and implicates a central role for ICSBP in the pathogenesis of CML, as well as a therapeutic target to overcome drug resistance in bcl-2-dependent tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[A Philadelphia negative chronic myelogenous leukemia with the chimeric BCR/ABL gene on chromosome 9 and a b3-a2 splice junction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Chronic myeloid leukaemia (CML) is a genetically associated malignancy of haematopoietic stem cells, characterized by a t(9;22) translocation that forms the Philadelphia chromosome and creates a novel fusion gene, BCR-ABL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Early molecular response (MR) defined by BCR-ABL(IS) levels has prognostic impact in chronic myeloid leukemia (CML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Detection and quantification of the abelson tyrosine kinase domains of the BCR-ABL gene translocation in chronic myeloid leukaemia using genomic quantitative real-time polymerase chain reaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[A new method of 'in-cell reverse transcriptase-polymerase chain reaction' for the detection of BCR/ABL transcript in chronic myeloid leukemia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Chronic myelogenous leukemia is typically characterized by the presence of the Philadelphia chromosome (Ph) in which 5' portions of the BCR gene are fused to a large portion of the ABL gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Tyrosine kinase inhibitors induce sustained disease remissions in chronic myeloid leukemia by exploiting the addiction of this type of leukemia to the activity of the fusion oncogene BCR-ABL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[A study on the incidence of ABL gene deletion on derivative chromosome 9 in chronic myelogenous leukemia by interphase fluorescence in situ hybridization and its association with disease progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We propose a model where a trans-factor present in some CML cells interacts with ABL exon 2 pre-mRNA to promote skipping of upstream BCR exons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Whether altered PYK2 splicing contributes to CML pathogenesis remains undetermined; however, we propose that generic changes in pre-mRNA splicing as a result of p210BCR/ABL kinase activity may contribute to CML pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Furthermore, the PCR-amplified CML-positive patient samples with various BCR-ABL transcript ratios can be electrochemically distinguished from healthy samples, indicating promising application of the QDs based biosensor for clinical investigations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Prediction of relapse by day 100 BCR-ABL quantification after allogeneic stem cell transplantation for chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Using flow-FISH, telomere length in peripheral blood leucocytes (PBL) from 32 consecutive newly diagnosed patients was measured (with ex-vivo expanded T-cells as an internal BCR-ABL negative control), in addition to 65 samples from all CML stages and 7 paired CP/BP samples.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Activation of ?-catenin was linked to CML leukemogenesis and drug resistance through its BCR-ABL-dependent Y phosphorylation and impaired binding to GSK3? (glycogen synthase kinase 3?).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[The COOH-terminus of these transcription products contain an amino acid portion derived from an out-of-frame (OOF) reading of the ABL gene; these variants are expressed in Ph-positive chronic myelogenous leukemia (CML) and acute lymphocytic leukemia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[GISTs can be successfully treated with imatinib mesylate, a selective small-molecule protein kinase inhibitor that was first clinically approved to target the oncogenic BCR-ABL fusion protein kinase in chronic myelogenous leukemia, but which also potently inhibits KIT and PDGFR family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Prognostic significance of BCR-ABL rearrangement in chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Dasatinib is a small-molecule inhibitor of the tyrosine kinases SRC and ABL that has been approved for the treatment of chronic myeloid leukemia (CML) and Philadelphia chromosome-positive acute lymphoblastic leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[However, BCR-ABL inhibitor-resistant CML HSCs persist that may be a reservoir for relapse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Mutation in the ABL kinase domain is the principal mechanism of imatinib resistance in patients with chronic myelogenous leukaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Mutant forms of the c-ABL gene are well known to be involved in hematopoietic malignancies such as chronic myeloid leukemia (CML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Using the data of 723 chronic myeloid leukemia (CML) patients in the chronic phase, we analyzed the prognostic value of the Sokal, Euro, and EUTOS scores as well as the level of BCR-ABL1 and the achievement of complete cytogenetic response (CCgR) at 3 months of imatinib therapy in relation to the so-called current survival measures: the current cumulative incidence (CCI) reflecting the probability of being alive and in CCgR after starting imatinib therapy; the current leukemia-free survival (CLFS) reflecting the probability of being alive and in CCgR after achieving the first CCgR; and the overall survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Inactivation of p53, which can accompany disease progression in human CML, impedes the response to imatinib in vitro and in vivo without preventing BCR-ABL kinase inhibition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Chronic myeloid leukaemia (CML) is a clonal disorder of the pluripotent haemopoietic stem cell, the hallmark of which is the constitutively activated Bcr-Abl protein tyrosine kinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[DNA was isolated from dried blood stains from CML patients stored on filter paper (Guthrie cards) after a median period from diagnosis of 11 years (range: 5-12 years) and analyzed with a two round long-range multiplex PCR (MLR-PCR) to identify the genomic BCR-ABL1 breakpoint.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[This may explain the milder leukemic phenotype in most patients with CML-N. A review of all 23 patients who had an e19/a2 type BCR/ABL translocation suggested that the low level of p230 BCR/ABL mRNA and the lack of detectable p230 BCR/ABL protein in patients with no additional cytogenetic abnormalities may predict their indolent clinical course.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[BCR-ABL kinase domain mutations in chronic myeloid leukemia: not quite enough to cause resistance to imatinib therapy?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[BCR-ABL1-induced expression of HSPA8 promotes cell survival in chronic myeloid leukaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[In the first years of imatinib treatment, BCR-ABL remained detectable in all but a small minority of patients with chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: diagnostic challenges in clinical laboratory practice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic responses and one of three patients (33%) with Philadelphia chromosome-positive acute lymphoblastic leukemia obtained complete remission.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP2962.RAVfusVOFNqOCQSyAmvjedzKOSOj1lQy9PBmVNGD6K6Vs130_assertion description "[Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2962.RAVfusVOFNqOCQSyAmvjedzKOSOj1lQy9PBmVNGD6K6Vs130_provenance.
• NP2964.RAVfKzN8MgF3E5MS_a_sGlWADhFFgHZbcgpfOG4Gix6po130_assertion description "[The non-HFE hereditary hemochromatosis forms include a juvenile onset form associated with mutations in HAMP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2964.RAVfKzN8MgF3E5MS_a_sGlWADhFFgHZbcgpfOG4Gix6po130_provenance.
• NP2969.RAfUGDnXwFGleFXcwMsOL-fCEFSmO0Cx35Trgw7Szla6o130_assertion description "[Digenic mutations in severe congenital neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2969.RAfUGDnXwFGleFXcwMsOL-fCEFSmO0Cx35Trgw7Szla6o130_provenance.
• NP2970.RATk7exR8QhrWiSLuK3YdZn0NrhXZgk0m7KC6pQbUK6T0130_assertion description "[Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2970.RATk7exR8QhrWiSLuK3YdZn0NrhXZgk0m7KC6pQbUK6T0130_provenance.
• NP2975.RASZSQC817aANhzDz_BQg_jcvlWhaLWZVNFrnD9jLv6po130_assertion description "[A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2975.RASZSQC817aANhzDz_BQg_jcvlWhaLWZVNFrnD9jLv6po130_provenance.
• NP2981.RAYi3nRAkcZjni_4jTkAvU22UboFVzag-g41xoMxNmY_s130_assertion description "[Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2981.RAYi3nRAkcZjni_4jTkAvU22UboFVzag-g41xoMxNmY_s130_provenance.
• NP2985.RAeDaLv1sKsg2fW6paPvH5P6HPHNEtLmo2UCk24PpJeWE130_assertion description "[A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2985.RAeDaLv1sKsg2fW6paPvH5P6HPHNEtLmo2UCk24PpJeWE130_provenance.
• NP2989.RAdT_OP8WXnSlXf0vZ1MXqyTdFbC6ewSgim1LsB3iQzhg130_assertion description "[Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2989.RAdT_OP8WXnSlXf0vZ1MXqyTdFbC6ewSgim1LsB3iQzhg130_provenance.
• NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion description "[Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
• NP2998.RARa1_V1c4kDsSxzbtB3EeswW64q-JjMPNf5jW0GBWhLU130_assertion description "[Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2998.RARa1_V1c4kDsSxzbtB3EeswW64q-JjMPNf5jW0GBWhLU130_provenance.
• NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion description "[We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
• NP3004.RAUan_mTmLOSLlYdpSeH4vNsRMQSMxmQq2O_Sf25jdxdA130_assertion description "[Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3004.RAUan_mTmLOSLlYdpSeH4vNsRMQSMxmQq2O_Sf25jdxdA130_provenance.
• NP3009.RAXzuWKNwibOSlsEZOij0iUbhG1kiZoPptlcx-6g4DWtM130_assertion description "[Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3009.RAXzuWKNwibOSlsEZOij0iUbhG1kiZoPptlcx-6g4DWtM130_provenance.
• NP3013.RAUdYg6W1L1b3ZKB5FcGnoEJyaers_wpCBJLVxSzDkPE8130_assertion description "[Gene symbol: HFE. Disease: Haemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3013.RAUdYg6W1L1b3ZKB5FcGnoEJyaers_wpCBJLVxSzDkPE8130_provenance.
• NP3016.RAZw-i9aC6nnekmwt7Xa_-raOQnR-qNvYl4eoSpmNVLOU130_assertion description "[1.13.11.5) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3016.RAZw-i9aC6nnekmwt7Xa_-raOQnR-qNvYl4eoSpmNVLOU130_provenance.
• NP3021.RAZ6yv149cZtdpdjy_FPl6qk0xIHisecCnKvVl6JOusAU130_assertion description "[Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3021.RAZ6yv149cZtdpdjy_FPl6qk0xIHisecCnKvVl6JOusAU130_provenance.
• NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_assertion description "[Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3023.RAdXcDVXct6Gvza_OTuC8ABFnPoRo-8ObFpGdUszHs9uM130_provenance.
• NP3024.RAXYH_QMKQdMFBc8WQsvECsOtS1AV65nT6Kxql_a4jZQQ130_assertion description "[Hexokinase mutations that produce nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3024.RAXYH_QMKQdMFBc8WQsvECsOtS1AV65nT6Kxql_a4jZQQ130_provenance.
• NP3028.RAXRye46cgZ1ObFfFpbXHmBrLVeoj5DdsretkPfRUxD-I130_assertion description "[Multiple carboxylase deficiency (MCD, MIM:253270) is a common organic aciduria and caused by deficiency of either biotinidase or holocarboxylase synthetase (HLCS; EC 6.3.4.10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3028.RAXRye46cgZ1ObFfFpbXHmBrLVeoj5DdsretkPfRUxD-I130_provenance.
• NP3040.RAbeF9JxDZXOcG6Jjq8QEuNXK2P-JM2JTguE8JOdfEEn0130_assertion description "[New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3040.RAbeF9JxDZXOcG6Jjq8QEuNXK2P-JM2JTguE8JOdfEEn0130_provenance.
• NP3047.RAXmGp6LeJKqY3E_u7mJA40M-84CF6m-7tTQtQiVYvT2o130_assertion description "[Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3047.RAXmGp6LeJKqY3E_u7mJA40M-84CF6m-7tTQtQiVYvT2o130_provenance.
• NP3050.RAXW-6pk0gAwkLknWbXeXhqrsO8U5cEJoGBuJXN2INa4U130_assertion description "[C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3050.RAXW-6pk0gAwkLknWbXeXhqrsO8U5cEJoGBuJXN2INa4U130_provenance.
• NP3051.RASc-Q2kvo8trspkEhQhmKzffsc_W1shrYp3e_3D5SRmk130_assertion description "[Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3051.RASc-Q2kvo8trspkEhQhmKzffsc_W1shrYp3e_3D5SRmk130_provenance.
• NP3053.RAZpgWUTAzdyhE_SytSQrxibRREb5vqVZ9vZnfdcbJckY130_assertion description "[Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3053.RAZpgWUTAzdyhE_SytSQrxibRREb5vqVZ9vZnfdcbJckY130_provenance.
• NP3057.RAQC2B_bpQRXIeBxII-5e9hcZnALBndnorzCPodwTjOkI130_assertion description "[Genetic basis of mitochondrial HMG-CoA synthase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3057.RAQC2B_bpQRXIeBxII-5e9hcZnALBndnorzCPodwTjOkI130_provenance.
• NP3058.RASOe1lvYzg4RAnOTCHnbsYIVWSdnPH17Yqi4h9poSNQw130_assertion description "[Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3058.RASOe1lvYzg4RAnOTCHnbsYIVWSdnPH17Yqi4h9poSNQw130_provenance.
• NP3061.RAVE4Jv88FCd3Fzbl-T5UF4D_tfAXTFIHELAo2fDqYK_k130_assertion description "[Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3061.RAVE4Jv88FCd3Fzbl-T5UF4D_tfAXTFIHELAo2fDqYK_k130_provenance.
• NP3062.RARTWyn5EuPdUZeyHkvT0Sf9OtMuzGpS0LII4eCrnNAWI130_assertion description "[Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3062.RARTWyn5EuPdUZeyHkvT0Sf9OtMuzGpS0LII4eCrnNAWI130_provenance.
• NP3069.RAZEHovshn4bCsI5Fj3IuHGGz7jKSAz9EiMNC4lUCmfhk130_assertion description "[Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3069.RAZEHovshn4bCsI5Fj3IuHGGz7jKSAz9EiMNC4lUCmfhk130_provenance.
• NP3078.RARcmCfBXKrJ9HoFa3433-i2GV1cMxAqLTgnW0SRpljQ8130_assertion description "[Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3078.RARcmCfBXKrJ9HoFa3433-i2GV1cMxAqLTgnW0SRpljQ8130_provenance.
• NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion description "[A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
• NP3088.RAVYPMAzPq79M3Rp_YPlwHH1f6ZuV_yLrLidroDqsuOss130_assertion description "[A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3088.RAVYPMAzPq79M3Rp_YPlwHH1f6ZuV_yLrLidroDqsuOss130_provenance.
• NP3092.RAVAnQdzeTz4B-BqenxOCGGDjmV7--Fh1mNmPoXLGrqwo130_assertion description "[Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3092.RAVAnQdzeTz4B-BqenxOCGGDjmV7--Fh1mNmPoXLGrqwo130_provenance.
• NP3101.RATEcNZ-kv30KYx5ellz9zMDgLwZiVkokeEQZH8IigqZE130_assertion description "[Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3101.RATEcNZ-kv30KYx5ellz9zMDgLwZiVkokeEQZH8IigqZE130_provenance.
• NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion description "[Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
• NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_assertion description "[Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3105.RAd4WhJ5eImmrW1ZL2yKNXXxp8rfKI_PFYR8W21e0qy1Q130_provenance.
• NP3121.RAa5vttqols3oiBH6xosNZIWloAgiFqDQBpFOH9j-PhyY130_assertion description "[Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3121.RAa5vttqols3oiBH6xosNZIWloAgiFqDQBpFOH9j-PhyY130_provenance.
• NP3122.RAZ7qO4Ovwf8JuNOzUdiwfqeye-z2f0zUXvdKnQVl77vk130_assertion description "[Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3122.RAZ7qO4Ovwf8JuNOzUdiwfqeye-z2f0zUXvdKnQVl77vk130_provenance.
• NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_assertion description "[A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3127.RATIIEyIPVB9hSWjvDZRYtfMnL1O_YLLf2yTkMJAvA_bI130_provenance.
• NP3130.RASnlPL2ox3oU7czDu9rmRq6hTy9mQ8yGTBdUfBaA5ZeI130_assertion description "[Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3130.RASnlPL2ox3oU7czDu9rmRq6hTy9mQ8yGTBdUfBaA5ZeI130_provenance.
• NP3133.RAVKS757bEEZA363WrjICJ1LiC5ytQ1lEoVeeoOBExXq4130_assertion description "[Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3133.RAVKS757bEEZA363WrjICJ1LiC5ytQ1lEoVeeoOBExXq4130_provenance.
• NP3134.RAS_nqKGah979DxrXvZE-DOZE9IwRR25I8C93bF47IwIg130_assertion description "[2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3134.RAS_nqKGah979DxrXvZE-DOZE9IwRR25I8C93bF47IwIg130_provenance.

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