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we have tested thirty-two phenotypic blood markers on sixteen families with with ataxia-telangiectasia ( at ) in an attempt to identify the chromosomal location of the at gene ( s ) .
pathogenesis_of_disease_involves_gene
{ "id": "C0004135", "name": "ataxia-telangiectasia", "pos": [ 81, 102 ] }
{ "id": "C1705846", "name": "at gene", "pos": [ 168, 175 ] }
studies with epstein-barr virus ( ebv ) -converted bl cells demonstrated that the differential effect of pma on c-myc expression was not due to alterations in the structure of the translocated c-myc gene , but to the difference in the intracellular milieu of the b cells .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "bl", "pos": [ 51, 53 ] }
{ "id": "C0086661", "name": "c-myc", "pos": [ 193, 198 ] }
these data suggest that cml with and without the ph1 chromosome are molecularly identical disorders with regard to bcr and abl .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 24, 27 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 123, 126 ] }
analysis of hybrids derived from a burkitt lymphoma , with a translocation breakpoint in the oncogene c-myc , shows that the tg gene is located distal from c-myc , towards the telomere of the long arm of chromosome 8 .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt lymphoma", "pos": [ 35, 51 ] }
{ "id": "C0086661", "name": "oncogene", "pos": [ 93, 101 ] }
the major consequence of the formation of the philadelphia ( ph1 ) chromosome characteristic of leukemia cells of patients with chronic myelogenous leukemia ( cml ) is fusion of c-abl and bcr genes .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 128, 156 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 180, 183 ] }
in addition to the previously reported p210 and p190 abl-related proteins , a novel mr 53,000 protein was found to undergo phosphorylation at serine and tyrosine in immune complex kinase assays of two blast crisis cml cell lines ( k562 and em2 ) and in samples from blast crisis patients in which p210bcr-abl was detected .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 214, 217 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 305, 308 ] }
increasing attention has been given to hereditary nonpolyposis colorectal cancer ( hnpcc ) , a disorder which occurs four or five times more frequently than its hereditary counterpart , familial multiple adenomatous polyposis coli ( fpc ) .
pathogenesis_of_disease_involves_gene
{ "id": "C0032580", "name": "familial", "pos": [ 186, 194 ] }
{ "id": "C0162832", "name": "fpc", "pos": [ 233, 236 ] }
this is in direct contrast to the findings in chronic myelogenous leukemia , in which c-abl is translocated , leading to the production of a structurally altered c-abl protein with activated tyrosine kinase .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 46, 74 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 164, 167 ] }
forty-seven danish and 50 finnish patients with familial adenomatous polyposis coli ( fpc ) were studied by panoramic tomography ( ptg ) of the mandible , which showed dental abnormalities in 17 % of the cases .
pathogenesis_of_disease_involves_gene
{ "id": "C0032580", "name": "familial adenomatous polyposis", "pos": [ 48, 78 ] }
{ "id": "C0162832", "name": "fpc", "pos": [ 86, 89 ] }
in cml , the molecular events resulting from the ph translocation include a break within the bcr locus on chromosome 22 , transfer of the c-abl protooncogene from chromosome 9 to 22 , and formation of an aberrant 210-kd bcr-abl fusion protein ( p210bcr-abl ) .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 3, 6 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 253, 256 ] }
the 9 ; 22 philadelphia chromosome translocation in chronic myelogenous leukemia ( cml ) generates a bcr-abl fusion gene which codes for an aberrant 8-kb bcr-abl hybrid message .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 52, 80 ] }
{ "id": "C1835417", "name": "bcr-abl fusion gene", "pos": [ 101, 120 ] }
in chronic granulocytic leukemia ( cgl ) the philadelphia translocation results in the production of a novel 210 kda bcr-abl fusion protein which shows increased tyrosine protein kinase activity in comparison with its normal 145 kda c-abl counterpart .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic granulocytic leukemia", "pos": [ 3, 32 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 235, 238 ] }
to understand the organization of the gene in normal and chronic myelogenous leukemia patient dna we have mapped c-abl by pulsed field gradient gel electrophoresis .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 57, 85 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 115, 118 ] }
in cml the breakpoints occur on chromosome 22 in the region designated bcr ( ref . 3 ) and result in the expression of a bcr-abl fusion product of relative molecular mass ( mt ) 210,000 ( 210k ) with associated in vitro tyrosine kinase activity ( p210bcr-abl ) .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 3, 6 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 255, 258 ] }
to investigate the usefulness of melanin macroglobules ( mmg ) as a cellular marker for neurofibromatosis , their density was quantified in biopsies of cafe-au-lait spots ( macules ) ( calm ) from 22 patients with von recklinghausen 's neurofibromatosis , 6 patients with bilateral acoustic neurofibromatosis , and 19 controls .
pathogenesis_of_disease_involves_gene
{ "id": "C0027831", "name": "neurofibromatosis", "pos": [ 88, 105 ] }
{ "id": "C0085113", "name": "von recklinghausen 's", "pos": [ 214, 235 ] }
two notable examples are that of the t ( 9 ; 22 ) translocation of chronic myelogenous leukemia ( cml ) , causing the transfer of the oncogene c-abl from chromosome 9 to chromosome 22 , and that of the t ( 8 ; 14 ) translocation of burkitt lymphoma , causing the transfer of the oncogene c-myc from chromosome 8 to chromosome 14 .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt", "pos": [ 232, 239 ] }
{ "id": "C0086661", "name": "oncogene", "pos": [ 279, 287 ] }
induction of chronic myelogenous leukemia in mice by the p210bcr/abl gene of the philadelphia chromosome .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 13, 41 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 65, 68 ] }
in tumor cells from virtually all patients with chronic myelogenous leukemia , the philadelphia chromosome , a fusion of chromosomes 9 and 22 , directs the synthesis of the p210bcr/abl protein .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 48, 76 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 181, 184 ] }
to determine whether p210bcr/abl can induce chronic myelogenous leukemia , murine bone marrow was infected with a retrovirus encoding p210bcr/abl and transplanted into irradiated syngeneic recipients .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 44, 72 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 142, 145 ] }
in the majority of philadelphia ( ph ) -positive chronic myeloid leukemia ( cml ) patients , the c-abl gene is fused to the bcr gene , resulting in the transcription of an 8.5 kb chimeric bcr-abl mrna , which is translated into a p210bcr-abl fusion protein .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "philadelphia", "pos": [ 19, 31 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 238, 241 ] }
analysis of the segregation of ets-1 alleles in at families yields strongly negative lod scores , excluding an at gene from a region extending 15 cm to either side of ets-1 .
pathogenesis_of_disease_involves_gene
{ "id": "C0004135", "name": "at", "pos": [ 22, 24 ] }
{ "id": "C1705846", "name": "at gene", "pos": [ 111, 118 ] }
multipoint mapping of ets-1 , d11s144 , thy1 , and at also excludes the possibility that an at gene is telomeric to ets-1 .
pathogenesis_of_disease_involves_gene
{ "id": "C0004135", "name": "at", "pos": [ 51, 53 ] }
{ "id": "C1705846", "name": "at gene", "pos": [ 92, 99 ] }
in particular , the majority of murine plasmacytomas and human burkitt 's lymphomas contain a characteristic translocation which results in the juxtaposition of a cellular oncogene , c-myc , with the immunoglobulin heavy-chain gene locus , and this rearranged c-myc directs the synthesis of qualitatively and quantitatively abnormal transcripts which may have an aetiological role in the development of the transformed state in lymphoid malignancies .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt 's lymphomas", "pos": [ 63, 83 ] }
{ "id": "C0086661", "name": "c-myc", "pos": [ 260, 265 ] }
leukaemic cells from 5 of 6 patients with chronic myelogenous leukaemia ( cml ) and the ph1 chromosome were found to contain a new 8 kb abl rna transcript .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukaemia", "pos": [ 42, 71 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 136, 139 ] }
in the case of burkitt lymphoma , such a translocation joins the cellular oncogene , c-myc , to a region encoding one of the immunoglobulin genes .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt", "pos": [ 15, 22 ] }
{ "id": "C0086661", "name": "c-myc", "pos": [ 85, 90 ] }
studies from this laboratory and others have shown that virtually all patients with chronic myelogenous leukemia have this new bcr/abl fusion gene .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 84, 112 ] }
{ "id": "C1835417", "name": "bcr/abl fusion gene", "pos": [ 127, 146 ] }
in contrast to these findings in chronic myelogenous leukemia , a small number of patients with ph1 ( + ) acute lymphoblastic leukemia ( all ) have been studied and were found to lack the bcr/abl fusion gene [ bcr ( - ) ] , but to have a new activation of abl , by recombination with an as yet undetermined region on chromosome 22 .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic", "pos": [ 33, 40 ] }
{ "id": "C1835417", "name": "bcr/abl fusion gene", "pos": [ 188, 207 ] }
in contrast to these findings in chronic myelogenous leukemia , a small number of patients with ph1 ( + ) acute lymphoblastic leukemia ( all ) have been studied and were found to lack the bcr/abl fusion gene [ bcr ( - ) ] , but to have a new activation of abl , by recombination with an as yet undetermined region on chromosome 22 .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic", "pos": [ 33, 40 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 256, 259 ] }
since the expression of different oncogene products may play a role in the distinctive presentation of ph1-positive all versus cml , it is necessary to understand the molecular basis for the expression of p185all-abl .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 127, 130 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 213, 216 ] }
antisera to bcr determinants proximal to the bcr-abl junction in cml immunoprecipitated p210bcr-abl but not p185all-abl .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 65, 68 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 116, 119 ] }
although chromosome 22 translocation breakpoints in cml virtually always occur within the 5.8-kilobase ( kb ) bcr , chromosome 9 breakpoints have been identified within the known limits of abl in only a few instances .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 52, 55 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 189, 192 ] }
these results suggest that the 9 ; 22 translocation breakpoints in cml consistently occur within the limits of the large abl gene .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 67, 70 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 121, 124 ] }
these data support the notion that the unusual genetic recombinations that give rise to bcr/abl fusion genes in cml involve specific dna sequences of bcr ( and possibly abl ) and additional , recombinogenic sequences , at least some of which are present in loci known to be nonrandomly involved in complex ph1 translocations .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 112, 115 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 169, 172 ] }
the prognosis in patients with malignant pnst depends heavily on the extent of surgical excision , size of the primary tumor , and presence or absence of von recklinghausen 's neurofibromatosis .
pathogenesis_of_disease_involves_gene
{ "id": "C0751690", "name": "malignant pnst", "pos": [ 31, 45 ] }
{ "id": "C0085113", "name": "von", "pos": [ 154, 157 ] }
two distinct forms of nf have been described : 'peripheral ' or von recklinghausen nf ( vrnf ) and 'central ' or bilateral acoustic nf ( banf ) .
pathogenesis_of_disease_involves_gene
{ "id": "C0027831", "name": "nf", "pos": [ 22, 24 ] }
{ "id": "C0085113", "name": "von recklinghausen nf", "pos": [ 64, 85 ] }
we report a case of neurofibroma of the ureter without other clinical signs of von recklinghausen 's neurofibromatosis .
pathogenesis_of_disease_involves_gene
{ "id": "C0027830", "name": "ureter", "pos": [ 40, 46 ] }
{ "id": "C0085113", "name": "von recklinghausen 's neurofibromatosis", "pos": [ 79, 118 ] }
chronic myelogenous leukemia ( cml ) is associated with the reciprocal translocation of a region of chromosome 22 called bcr with the c-abl gene of chromosome 9.5 ' coding sequences from the bcr gene are spliced in-frame to the second exon of the abl gene to produce a cml-specific 8.5 kilobase message which encodes the bcr-abl hybrid protein p210 .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 31, 34 ] }
{ "id": "C3274672", "name": "bcr-abl", "pos": [ 321, 328 ] }
the identification of two nf1 patients with balanced translocations that involved chromosome 17q11.2 suggests that the disease can arise by gross rearrangement of the nf1 locus , and that the nf1 gene might be identified by cloning the region around these translocation breakpoints .
pathogenesis_of_disease_involves_gene
{ "id": "C0027831", "name": "nf1", "pos": [ 26, 29 ] }
{ "id": "C0085113", "name": "nf1 gene", "pos": [ 192, 200 ] }
linkage analysis in familial adenomatous polyposis : order of c11p11 ( d5s71 ) and pi 227 ( d5s37 ) loci at the apc gene .
pathogenesis_of_disease_involves_gene
{ "id": "C0032580", "name": "familial adenomatous polyposis", "pos": [ 20, 50 ] }
{ "id": "C0162832", "name": "apc gene", "pos": [ 112, 120 ] }
there were 16 ( 11 % ) malignant peripheral nerve sheath tumors , seven of which occurred in children with vrn .
pathogenesis_of_disease_involves_gene
{ "id": "C0751690", "name": "malignant peripheral nerve sheath tumors", "pos": [ 23, 63 ] }
{ "id": "C0085113", "name": "vrn", "pos": [ 107, 110 ] }
human chronic myeloid leukemia ( cml ) cells and cell lines have been shown to contain an active bcr-c-abl p210 tyrosine kinase as a consequence of the philadelphia chromosomal translocation .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myeloid leukemia", "pos": [ 6, 30 ] }
{ "id": "C3274672", "name": "bcr", "pos": [ 97, 100 ] }
chronic myelogenous leukemia ( cml ) is a human disease associated with a consistent chromosomal translocation that results in sequences from the c-abl locus on chromosome 9 being fused to sequences in a breakpoint cluster region ( bcr ) on chromosome 22 .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myelogenous leukemia", "pos": [ 0, 28 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 148, 151 ] }
cml cells have two novel products : an 8.5-kilobase rna transcript containing both abl and bcr and a 210-kilodalton phosphoprotein ( p210 ) recognized by v-abl-specific antisera .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 0, 3 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 156, 159 ] }
cml cells carrying the t ( 9 ; 22 ) chromosomal translocation are known to produce an 8-kilobase ( kb ) c-abl transcript in addition to the normal 6- and 7-kb transcripts and to express the normal p145 abl protein and a p210 c-abl protein possessing a tyrosine kinase activity not detected in the p145 species .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 0, 3 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 227, 230 ] }
results of our analyses using somatic cell hybrids between a mouse fibroblast line and two human cml-derived cell lines which carry the ph1 chromosome and are phenotypically identical to the fibroblast parent indicate that only the hybrid cells containing ph1 chromosome express both the 8-kb c-abl rna and the p210 protein .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 97, 100 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 295, 298 ] }
burkitt 's lymphoma , where myc oncogene is translocated from chromosome 8 to chromosomes 2 , 14 or 22 near immunoglobulin genes ;
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt 's lymphoma", "pos": [ 0, 19 ] }
{ "id": "C0086661", "name": "myc oncogene", "pos": [ 28, 40 ] }
although the break in cml chromosomes at 9q34 and the location of c-abl at 9q34 could be unrelated , it seems more likely that the two genetic events are associated with evolution of malignant hematopoiesis of man .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 22, 25 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 68, 71 ] }
the latter as well as 902 or 927 amino acids are included within the cml-specific bcr-abl mrna transcribed from the chimeric bcr-abl gene on chromosome 22 .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 69, 72 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 129, 132 ] }
[ genetic analysis of familial polyposis coli . analysis of gene expression of oncogenes in colon tumors of fpc ] .
pathogenesis_of_disease_involves_gene
{ "id": "C0032580", "name": "familial polyposis coli", "pos": [ 22, 45 ] }
{ "id": "C0162832", "name": "fpc", "pos": [ 108, 111 ] }
three cases had bcr rearrangement and c-abl mrna expression comparable to those reported in ph1+ chronic myeloid leukemia , while three others had not detectable bcr rearrangement and a 7.2-7.5 kb c-abl mrna .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "chronic myeloid leukemia", "pos": [ 97, 121 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 199, 202 ] }
we describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli ( fpc ) , but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps .
pathogenesis_of_disease_involves_gene
{ "id": "C0032580", "name": "familial", "pos": [ 55, 63 ] }
{ "id": "C0162832", "name": "fpc", "pos": [ 102, 105 ] }
a series of 46 malignant schwannomas occurring in soft parts of patients having von recklinghausen 's neurofibromatosis was analyzed .
pathogenesis_of_disease_involves_gene
{ "id": "C0751690", "name": "malignant schwannomas", "pos": [ 15, 36 ] }
{ "id": "C0085113", "name": "von recklinghausen 's neurofibromatosis", "pos": [ 80, 119 ] }
in colorectal carcinoma , it has been shown that the accumulation of several alterations in ras genes and p53 genes is most important for the conversion of adenoma to carcinoma .
pathogenesis_of_disease_involves_gene
{ "id": "C0009402", "name": "colorectal carcinoma", "pos": [ 3, 23 ] }
{ "id": "C0079419", "name": "p53 genes", "pos": [ 106, 115 ] }
these data indicate that , at least in the system described here , the malignant phenotype of burkitt 's lymphoma cells can be suppressed by introduction of an additional set of apparently normal chromosomes from the same individual and that ebv infection and c-myc deregulation may not be sufficient for maintenance of the malignant phenotype .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "malignant", "pos": [ 71, 80 ] }
{ "id": "C0086661", "name": "c-myc", "pos": [ 260, 265 ] }
an assay for ataxia-telangiectasia ( a-t ) heterozygotes , i.e. , healthy carriers of the a-t gene ( s ) , requiring only a small sample ( 3.5 ml ) of peripheral blood , is described .
pathogenesis_of_disease_involves_gene
{ "id": "C0004135", "name": "ataxia-telangiectasia", "pos": [ 13, 34 ] }
{ "id": "C1705846", "name": "a-t gene", "pos": [ 90, 98 ] }
frequencies of chromatid aberrations in phytohemagglutinin-stimulated blood lymphocytes collected by demecolcine from 0.5 hour to 1.5 hours after x irradiation with 58 roentgens were twofold to threefold higher in a-t heterozygotes than in clinically normal controls and twofold to three-fold higher in a-t patients ( homozygotes ) than in a-t gene carriers .
pathogenesis_of_disease_involves_gene
{ "id": "C0004135", "name": "a-t", "pos": [ 214, 217 ] }
{ "id": "C1705846", "name": "a-t gene", "pos": [ 340, 348 ] }
in burkitt 's lymphoma , however , c-myc activation does occur as a result of specific chromosomal translocations involving the human c-myc locus .
pathogenesis_of_disease_involves_gene
{ "id": "C0006413", "name": "burkitt 's lymphoma", "pos": [ 3, 22 ] }
{ "id": "C0086661", "name": "c-myc", "pos": [ 134, 139 ] }
retinoblastoma ( rb ) cells may be more sensitive to x-irradiation than normal cells when assayed for clonogenic survival , suggesting that such sensitivity can be used as a trait for detecting rb1 gene carriers .
pathogenesis_of_disease_involves_gene
{ "id": "C0035335", "name": "retinoblastoma", "pos": [ 0, 14 ] }
{ "id": "C0694889", "name": "rb1 gene", "pos": [ 194, 202 ] }
intestinal neurofibromatosis without other manifestations of von recklinghausen 's neurofibromatosis was found in a multigeneration family .
pathogenesis_of_disease_involves_gene
{ "id": "C0027831", "name": "neurofibromatosis", "pos": [ 11, 28 ] }
{ "id": "C0085113", "name": "neurofibromatosis", "pos": [ 83, 100 ] }
a translocation was found in members of a family with intestinal neurofibromatosis , a rare dominant disorder phenotypically distinct from von recklinghausen neurofibromatosis .
pathogenesis_of_disease_involves_gene
{ "id": "C0027831", "name": "neurofibromatosis", "pos": [ 65, 82 ] }
{ "id": "C0085113", "name": "von", "pos": [ 139, 142 ] }
due to the rarity of malignant schwannomas , their infrequent occurrence in young persons in the absence of von recklinghausen 's neurofibromatosis , and the presence of schistosomal ovideposition , the possible role of schistosomal infection in the development of this malignancy is discussed .
pathogenesis_of_disease_involves_gene
{ "id": "C0751690", "name": "malignant schwannomas", "pos": [ 21, 42 ] }
{ "id": "C0085113", "name": "von recklinghausen 's", "pos": [ 108, 129 ] }
this rna presumably codes for a new abl-related protein product found in cml , the activity of which is different from the normal abl protein .
pathogenesis_of_disease_involves_gene
{ "id": "C0023473", "name": "cml", "pos": [ 73, 76 ] }
{ "id": "C1704928", "name": "abl", "pos": [ 130, 133 ] }
the data indicate that practolol exerts a negative chronotropic effect on the intact heart and , in contrast to other beta blockers such as propranolol , appears to decrease diastolic stiffness in the left ventricle .
physiologic_effect_of
{ "id": "C1372752", "name": "negative", "pos": [ 42, 50 ] }
{ "id": "C0033497", "name": "propranolol", "pos": [ 140, 151 ] }
the beta-adrenoceptor blocker ( -- ) -bupranolol antagonized the positive chronotropic effects of u-0521 to the same extent as the effects of ( -- ) -isoprenaline on single cells and atria of the rat .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 65, 86 ] }
{ "id": "C0022245", "name": "isoprenaline", "pos": [ 150, 162 ] }
in the isolated blood-perfused canine ventricular tissue , antiarrhythmic agents could be classified as having : 1 ) positive chronotropic and inotropic effects ( procainamide ) , 2 ) negative chronotropic but positive inotropic effects ( quinidine ) , and 3 ) negative chronotropic and inotropic effects ( lidocaine , ajmaline , diphenylhydantoin , and propranolol ) .
physiologic_effect_of
{ "id": "C1372752", "name": "negative chronotropic", "pos": [ 184, 205 ] }
{ "id": "C0033497", "name": "propranolol", "pos": [ 354, 365 ] }
these findings may be taken as evidence in support of the view that camp is involved in the positive chronotropic action of adrenaline on cardiac pacemaker cells .
physiologic_effect_of
{ "id": "C1372804", "name": "positive", "pos": [ 92, 100 ] }
{ "id": "C0014563", "name": "adrenaline", "pos": [ 124, 134 ] }
prostaglandins do not modulate the positive chronotropic and inotropic effects of sympathetic nerve stimulation and injected norepinephrine in the isolated blood perfused canine atrium .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 35, 56 ] }
{ "id": "C0028351", "name": "norepinephrine", "pos": [ 125, 139 ] }
significant bronchodilation was seen with high-dose theophylline ( fev1 increased 14 percent ) and with full 10-mg doses of fenoterol ( fev1 increased 10 percent ) .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 12, 27 ] }
{ "id": "C0039771", "name": "theophylline", "pos": [ 52, 64 ] }
comparative study of anorectic activity of d-amphetamine , chlorphentermine and fenfluramine in aurothioglucose obese and non-obese mice .
physiologic_effect_of
{ "id": "C2825056", "name": "anorectic activity", "pos": [ 21, 39 ] }
{ "id": "C0015827", "name": "fenfluramine", "pos": [ 80, 92 ] }
the characterization of this effect using reserpine pretreatment , propranolol , pargyline , 6-hydroxydopamine or the combination of some of those drugs enable us to conclude that serotonin is an amine of mixed action in the isolated atrium of the hamster , that is , its positive chronotropic effect has a direct component , which is obtained with lower concentrations of agonist and an indirect component through the liberation of endogenous noradrenaline from the sympathetic nerve terminals .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 272, 293 ] }
{ "id": "C0028351", "name": "noradrenaline", "pos": [ 444, 457 ] }
after three successive intravenous injections of propranolol , 0.5 mg/kg , had reduced the heart rate by 25 % , a fourth dose had no further negative chronotropic action , but amiodarone , 10 mg/kg intravenously , at this point reduced the heart rate by 23 % .3 .
physiologic_effect_of
{ "id": "C1372752", "name": "negative chronotropic", "pos": [ 141, 162 ] }
{ "id": "C0002598", "name": "amiodarone", "pos": [ 176, 186 ] }
sensitized rat mast cells in vitro display a decreased nippostrongylus-induced histamine release when treated with a concentration of ucb l140 three times smaller than dscg .
physiologic_effect_of
{ "id": "C2267051", "name": "decreased", "pos": [ 45, 54 ] }
{ "id": "C0012694", "name": "dscg", "pos": [ 168, 172 ] }
bronchodilation with regimens containing fenoterol was rapid , with 75 % of the maximum response achieved by 5 min , while the peak effect of ipratropium was delayed for 1 to 2 hr .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 0, 15 ] }
{ "id": "C0027235", "name": "ipratropium", "pos": [ 142, 153 ] }
the large cells showed diminished rates of lipolysis , reesterification , and glyceride-glycerol synthesis from glucose of a submaximal but not maximal insulin concentrations , probably reflecting decreased large cell receptor numbers .
physiologic_effect_of
{ "id": "C1371696", "name": "diminished", "pos": [ 23, 33 ] }
{ "id": "C0021641", "name": "insulin", "pos": [ 152, 159 ] }
3 both diabetic groups were found to have reduced sensitivities to the pressor effect of noradrenaline , the depressor effect of acetylcholine , the positive chronotropic and inotropic effect of isoprenaline and the reduction in diastolic pressure induced by isoprenaline .
physiologic_effect_of
{ "id": "C1372804", "name": "positive", "pos": [ 149, 157 ] }
{ "id": "C0022245", "name": "isoprenaline", "pos": [ 259, 271 ] }
these data indicate that dexamethasone a ) suppresses tsh secretion without increasing ft3 and ft4 and b ) blunts the tsh , but not the prl response , to trh .
physiologic_effect_of
{ "id": "C1372691", "name": "tsh secretion", "pos": [ 54, 67 ] }
{ "id": "C0040162", "name": "trh", "pos": [ 154, 157 ] }
the more sustained effect of cyclofenil on prolactin secretion with a reduced frequency of relapse , and the lower oestradiol level , which might indicate a reduced risk of thromboembolism , suggest that this drug has some advantage over bromocriptine in the inhibition of postpartum lactation .
physiologic_effect_of
{ "id": "C1371840", "name": "prolactin secretion", "pos": [ 43, 62 ] }
{ "id": "C0006230", "name": "bromocriptine", "pos": [ 238, 251 ] }
the decreased sensitivity of dna synthesis in l1210/ara-a cells treated with ara-a , relative to l1210/c2 cells , was due to reduced intracellular accumulation of ara-a phosphates in the resistant line .
physiologic_effect_of
{ "id": "C1371554", "name": "decreased", "pos": [ 4, 13 ] }
{ "id": "C0042646", "name": "ara-a", "pos": [ 163, 168 ] }
at doses producing significant bronchodilation , theophylline caused a significant increase in tremor of hands whereas enprofylline did not .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 31, 46 ] }
{ "id": "C0039771", "name": "theophylline", "pos": [ 49, 61 ] }
compared with normal subjects , increased platelet aggregation ( p less than 0.01 ) , von willebrand factor ( p less than 0.02 ) and factor viii-related antigen ( p less than 0.02 ) were observed .
physiologic_effect_of
{ "id": "C0542153", "name": "increased platelet aggregation", "pos": [ 32, 62 ] }
{ "id": "C0042971", "name": "factor viii-related antigen", "pos": [ 133, 160 ] }
this effect was clearly distinguishable from the positive chronotropic effect of isoprenaline and unlike isoprenaline was not blocked by propranolol .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 49, 70 ] }
{ "id": "C0022245", "name": "isoprenaline", "pos": [ 105, 117 ] }
when exogenous noradrenaline was continuously infused into catecholamine-depleted pithed rats , xamoterol showed dose-related positive chronotropic effects with noradrenaline at 0.5 micrograms/ ( kg min ) ( hr : 235 +/- 4 beats/min ) , virtually no effects at 1.5 micrograms/ ( kg min ) ( hr : 297 +/- 11 beats/min ) and dose-related negative chronotropic effects at 5 micrograms/ ( kg min ) ( hr : 330 +/- 5 beats/min ) .
physiologic_effect_of
{ "id": "C1372804", "name": "positive", "pos": [ 126, 134 ] }
{ "id": "C0028351", "name": "noradrenaline", "pos": [ 161, 174 ] }
to determine the potencies of edrophonium and neostigmine as antagonists of nondepolarizing neuromuscular blockade produced by atracurium and vecuronium , dose-response curves were constructed for both antagonists when given at 10 % spontaneous recovery of first twitch height .
physiologic_effect_of
{ "id": "C2917293", "name": "nondepolarizing neuromuscular blockade", "pos": [ 76, 114 ] }
{ "id": "C0004234", "name": "atracurium", "pos": [ 127, 137 ] }
to determine the potencies of edrophonium and neostigmine as antagonists of nondepolarizing neuromuscular blockade produced by atracurium and vecuronium , dose-response curves were constructed for both antagonists when given at 10 % spontaneous recovery of first twitch height .
physiologic_effect_of
{ "id": "C2917293", "name": "nondepolarizing neuromuscular blockade", "pos": [ 76, 114 ] }
{ "id": "C0242531", "name": "vecuronium", "pos": [ 142, 152 ] }
resistance to quinolones that emerged during experimental endocarditis therapy was associated with both modification of outer membrane permeability ( decreased uptake of norfloxacin ) and decreased susceptibility of dna synthesis to norfloxacin .
physiologic_effect_of
{ "id": "C1371554", "name": "decreased", "pos": [ 150, 159 ] }
{ "id": "C0028365", "name": "norfloxacin", "pos": [ 233, 244 ] }
these findings suggest that decreased positive chronotropic effect of isoproterenol in diabetes may not be a direct consequence of altered thyroid status .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 38, 59 ] }
{ "id": "C0022245", "name": "isoproterenol", "pos": [ 70, 83 ] }
s-596 antagonized the positive chronotropic and inotropic actions of adrenaline in isolated guinea-pig atria , and blocked the relaxant response to adrenaline of isolated guinea pig tracheal strips .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 22, 43 ] }
{ "id": "C0014563", "name": "adrenaline", "pos": [ 148, 158 ] }
finally , prazosin failed to significantly modify the negative chronotropic effects of clonidine observed in pithed shr whose heart rate was raised by continuous electrical stimulation of the thoracic spinal cord .
physiologic_effect_of
{ "id": "C1372752", "name": "negative chronotropic", "pos": [ 54, 75 ] }
{ "id": "C0009014", "name": "clonidine", "pos": [ 87, 96 ] }
chloroform extracts of equisetum fluviatile , e. hiemale var . affine , e. giganteum and e. myriochaetum were studied to determine diuretic activity in cd1 strain mice using hydrochlorothiazide , spironolactone and furosemide as standard drugs for comparison .
physiologic_effect_of
{ "id": "C2266870", "name": "diuretic activity", "pos": [ 131, 148 ] }
{ "id": "C0020261", "name": "hydrochlorothiazide", "pos": [ 174, 193 ] }
the study indicates that significant bronchodilation was achieved in small children using the combination of fenoterol and ipratropium bromide administered by metered aerosol even when inhalation and the release of the puff were not synchronized .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 37, 52 ] }
{ "id": "C0700580", "name": "ipratropium bromide", "pos": [ 123, 142 ] }
combination therapy induced significantly greater bronchodilation than treatment with terbutaline alone in the recommended dose .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 50, 65 ] }
{ "id": "C0039542", "name": "terbutaline", "pos": [ 86, 97 ] }
the maximum positive chronotropic response to 15-methyl-pge1 was found to be about 60 % of that of noradrenaline and histamine but almost equal to that of pge1 .
physiologic_effect_of
{ "id": "C1372804", "name": "positive", "pos": [ 12, 20 ] }
{ "id": "C0028351", "name": "noradrenaline", "pos": [ 99, 112 ] }
in order to study the mechanism of inhibition of gastric acid secretion by omeprazole , its action was investigated in several different in vitro preparations .
physiologic_effect_of
{ "id": "C1372721", "name": "inhibition", "pos": [ 35, 45 ] }
{ "id": "C0028978", "name": "omeprazole", "pos": [ 75, 85 ] }
it is particularly pertinent that fkk ( 30 mg/kg , i.d. , enough to cause marked bronchodilation ) , unlike aminophylline ( 30 mg/kg , i.d . ) , did not significantly influence the cardiovascular system .
physiologic_effect_of
{ "id": "C1371299", "name": "bronchodilation", "pos": [ 81, 96 ] }
{ "id": "C0002575", "name": "aminophylline", "pos": [ 108, 121 ] }
bunaphtine did not block positive chronotropic and inotropic responses to isoprenaline and did not reduce the positive inotropic effect of raised calcium concentrations .
physiologic_effect_of
{ "id": "C1372804", "name": "positive chronotropic", "pos": [ 25, 46 ] }
{ "id": "C0022245", "name": "isoprenaline", "pos": [ 74, 86 ] }
these findings suggest that hypertonic mannitol augments contractility in the ischemic failing heart while sustaining the desirable negative chronotropic action of propranolol .
physiologic_effect_of
{ "id": "C1372752", "name": "negative chronotropic", "pos": [ 132, 153 ] }
{ "id": "C0033497", "name": "propranolol", "pos": [ 164, 175 ] }
[ cns- and psycho-activity of the anorectic drugs phentermine and fenfluramine : blood level , quantitative eeg and psychometric analyses ( author 's transl ) ] .
physiologic_effect_of
{ "id": "C2825056", "name": "activity", "pos": [ 18, 26 ] }
{ "id": "C0031447", "name": "phentermine", "pos": [ 50, 61 ] }
[ cns- and psycho-activity of the anorectic drugs phentermine and fenfluramine : blood level , quantitative eeg and psychometric analyses ( author 's transl ) ] .
physiologic_effect_of
{ "id": "C2825056", "name": "activity", "pos": [ 18, 26 ] }
{ "id": "C0015827", "name": "fenfluramine", "pos": [ 66, 78 ] }
the effect of four adrenoceptor antagonists , chosen because of reported differences in their selectivities , were compared using the positive chronotropic response to isoprenaline on isolated rabbit atria .
physiologic_effect_of
{ "id": "C1372804", "name": "positive", "pos": [ 134, 142 ] }
{ "id": "C0022245", "name": "isoprenaline", "pos": [ 168, 180 ] }
the hypotensive and diuretic activities of a new diuretic , 1,4-dimorpholino-7-phenylpyrido [ 3,4-d ] pyridazine ( ds-511 ) , were compared with those of hydrochlorothiazide ( hc ) in doca , renal and spontaneously hypertensive rats .
physiologic_effect_of
{ "id": "C2266870", "name": "diuretic activities", "pos": [ 20, 39 ] }
{ "id": "C0020261", "name": "hydrochlorothiazide", "pos": [ 154, 173 ] }