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[] | A new method , called dideoxy fingerprinting , was used to detect an AVP mutation that was characterized by DNA sequencing . |
[] | The novel defect found changes the last codon of the AVP signal peptide from alanine to threonine , which should perturb cleavage of mature AVP from its precursor protein and inhibit its secretion or action . . |
[
{
"name": "Duchenne muscular dystrophy",
"pos": [
24,
51
],
"type": "Disease"
}
] | Germinal mosaicism in a Duchenne muscular dystrophy family : implications for genetic counselling . |
[
{
"name": "Duchenne muscular dystrophy",
"pos": [
93,
120
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
123,
126
],
"type": "Disease"
}
] | In this study we describe a three - generation family in which two siblings were affected by Duchenne muscular dystrophy ( DMD ) . |
[
{
"name": "DMD",
"pos": [
80,
83
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
134,
137
],
"type": "Disease"
}
] | Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters , including the probands mother . |
[
{
"name": "DMD",
"pos": [
75,
78
],
"type": "Disease"
}
] | These findings indicate that the grandfather was a germinal mosaic for the DMD gene . |
[] | The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy . |
[] | The results of this study demonstrate the usefulness of haplotype analysis and immunohistochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling . . |
[
{
"name": "breast - ovarian cancer syndrome",
"pos": [
23,
55
],
"type": "Disease"
}
] | Genetic mapping of the breast - ovarian cancer syndrome to a small interval on chromosome 17q12 - 21 : exclusion of candidate genes EDH17B2 and RARA . |
[
{
"name": "hereditary breast - ovarian cancer",
"pos": [
26,
60
],
"type": "Disease"
}
] | A susceptibility gene for hereditary breast - ovarian cancer , BRCA1 , has been assigned by linkage analysis to chromosome 17q21 . |
[] | Candidate genes in this region include EDH17B2 , which encodes estradiol 17 beta - hydroxysteroid dehydrogenase II ( 17 beta - HSD II ) , and RARA , the gene for retinoic acid receptor alpha . |
[
{
"name": "breast and breast - ovarian cancer",
"pos": [
17,
51
],
"type": "Disease"
}
] | We have typed 22 breast and breast - ovarian cancer families with eight polymorphisms from the chromosome 17q12 - 21 region , including two in the EDH17B2 gene . |
[
{
"name": "breast cancer",
"pos": [
31,
44
],
"type": "Disease"
}
] | Genetic recombination with the breast cancer trait excludes RARA from further consideration as a candidate gene for BRCA1 . |
[] | Both BRCA1 and EDH17B2 map to a 6 cM interval ( between THRA1 and D17S579 ) and no recombination was observed between the two genes . |
[] | However , direct sequencing of overlapping PCR products containing the entire EDH17B2 gene in four unrelated affected women did not uncover any sequence variation , other than previously described polymorphisms . |
[
{
"name": "hereditary breast - ovarian cancer syndrome",
"pos": [
82,
125
],
"type": "Disease"
}
] | Mutations in the EDH17B2 gene , therefore do not appear to be responsible for the hereditary breast - ovarian cancer syndrome . |
[] | Single meiotic crossovers in affected women suggest that BRCA1 is flanked by the loci RARA and D17S78 . . |
[] | A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins . |
[
{
"name": "atherosclerosis",
"pos": [
42,
57
],
"type": "Disease"
}
] | Plasma HDL are a negative risk factor for atherosclerosis . |
[] | Cholesteryl ester transfer protein ( CETP ; 476 amino acids ) transfers cholesteryl ester from HDL to other lipoproteins . |
[
{
"name": "CETP deficiency",
"pos": [
25,
40
],
"type": "Disease"
}
] | Subjects with homozygous CETP deficiency caused by a gene splicing defect have markedly elevated HDL ; however , heterozygotes have only mild increases in HDL . |
[] | We describe two probands with a CETP missense mutation ( 442 D G ) . |
[] | Although heterozygous , they have threefold increases in HDL concentration and markedly decreased plasma CETP mass and activity , suggesting that the mutation has dominant effects on CETP and HDL in vivo . |
[] | Cellular expression of mutant cDNA results in secretion of only 30 % of wild type CETP activity . |
[] | Moreover , coexpression of wild type and mutant cDNAs leads to inhibition of wild type secretion and activity . |
[] | The dominant effects of the CETP missense mutation during cellular expression probably explains why the probands have markedly increased HDL in the heterozygous state , and suggests that the active molecular species of CETP may be multimeric . . |
[
{
"name": "Familial Mediterranean fever",
"pos": [
0,
28
],
"type": "Disease"
}
] | Familial Mediterranean fever in the colchicine era : the fate of one family . |
[
{
"name": "familial Mediterranean fever",
"pos": [
98,
126
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
129,
132
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
196,
199
],
"type": "Disease"
}
] | In order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever ( FMF ) , a family is presented with 6 out of 9 siblings affected by FMF . |
[
{
"name": "amyloidotic kidney disease",
"pos": [
49,
75
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
79,
82
],
"type": "Disease"
}
] | Each patient represents a different stage of the amyloidotic kidney disease of FMF and the effect of continuous colchicine treatment on its course . |
[] | Considered together , the members of this family present an almost complete clinical , genetic , and behavioral picture of the disease . . |
[
{
"name": "Norrie disease",
"pos": [
34,
48
],
"type": "Disease"
}
] | Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning . |
[] | Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11 . |
[] | 4 - - > p11 . |
[] | 21 region of the human X chromosome . |
[
{
"name": "Norrie disease",
"pos": [
97,
111
],
"type": "Disease"
}
] | This novel sequence , cpXr318 ( DXS742 ) , detects a new submicroscopic deletion interval at the Norrie disease locus ( NDP ) . |
[] | Combining our data with the consensus genetic map of the proximal short arm of the X chromosome , we propose the physical order Xcen - DXS14 - DXS255 - ( DXS426 , TIMP ) - ( DXS742 - ( [ MAOB - MAOA - DXS7 ] , NDP ) - DXS77 - DXS228 ) - DXS209 - DXS148 - DXS196 - + + + Xpter . |
[] | The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence - tagged sites . |
[
{
"name": "Norrie disease",
"pos": [
92,
106
],
"type": "Disease"
}
] | Finally , DXS742 , DSX7 , DXS77 , and MAOA were integrated into a physical map spanning the Norrie disease locus |
[
{
"name": "X - linked adrenoleukodystrophy",
"pos": [
9,
40
],
"type": "Disease"
}
] | Putative X - linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters . |
[
{
"name": "Adrenoleukodystrophy",
"pos": [
0,
20
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
23,
26
],
"type": "Disease"
},
{
"name": "X - linked disease",
"pos": [
35,
53
],
"type": "Disease"
},
{
"name": "cerebral ALD",
"pos": [
93,
105
],
"type": "Disease"
},
{
"name": "adrenomyeloneuropathy",
"pos": [
125,
146
],
"type": "Disease"
},
{
"name": "AMN",
"pos": [
149,
152
],
"type": "Disease"
}
] | Adrenoleukodystrophy ( ALD ) is an X - linked disease affecting 1 / 20 , 000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy ( AMN ) in adults . |
[
{
"name": "ALD",
"pos": [
10,
13
],
"type": "Disease"
}
] | Childhood ALD is the more severe form , with onset of neurological symptoms between 5 - 12 years of age . |
[
{
"name": "Central nervous system demyelination",
"pos": [
0,
36
],
"type": "Disease"
}
] | Central nervous system demyelination progresses rapidly and death occurs within a few years . |
[
{
"name": "AMN",
"pos": [
0,
3
],
"type": "Disease"
}
] | AMN is a milder form of the disease with onset at 15 - 30 years of age and a more progressive course . |
[
{
"name": "Adrenal insufficiency",
"pos": [
0,
21
],
"type": "Disease"
},
{
"name": "Addisons disease",
"pos": [
24,
40
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
89,
92
],
"type": "Disease"
}
] | Adrenal insufficiency ( Addisons disease ) may remain the only clinical manifestation of ALD . |
[
{
"name": "ALD",
"pos": [
41,
44
],
"type": "Disease"
}
] | The principal biochemical abnormality of ALD is the accumulation of very - long - chain fatty acids ( VLCFA ) because of impaired beta - oxidation in peroxisomes . |
[
{
"name": "ALD",
"pos": [
152,
155
],
"type": "Disease"
}
] | The normal oxidation of VLCFA - CoA in patients fibroblasts suggested that the gene coding for the VLCFA - CoA synthetase could be a candidate gene for ALD . |
[
{
"name": "ALD",
"pos": [
105,
108
],
"type": "Disease"
}
] | Here we use positional cloning to identify a gene partially deleted in 6 of 85 independent patients with ALD . |
[] | In familial cases , the deletions segregated with the disease . |
[
{
"name": "ALD",
"pos": [
86,
89
],
"type": "Disease"
}
] | An identical deletion was detected in two brothers presenting with different clinical ALD phenotypes . |
[] | Candidate exons were identified by computer analysis of genomic sequences and used to isolate complementary DNAs by exon connection and screening of cDNA libraries . |
[] | The deduced protein sequence shows significant sequence identity to a peroxisomal membrane protein of M ( r ) 70K that is involved in peroxisome biogenesis and belongs to the ATP - binding cassette superfamily of transporters . . |
[
{
"name": "hypobetalipoproteinemia",
"pos": [
62,
85
],
"type": "Disease"
},
{
"name": "developmental abnormalities",
"pos": [
90,
117
],
"type": "Disease"
}
] | Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice . |
[
{
"name": "Familial hypobetalipoproteinemia",
"pos": [
0,
32
],
"type": "Disease"
},
{
"name": "autosomal codominant disorder",
"pos": [
39,
68
],
"type": "Disease"
}
] | Familial hypobetalipoproteinemia is an autosomal codominant disorder resulting in a dramatic reduction in plasma concentrations of apolipoprotein ( apo ) B , cholesterol , and beta - migrating lipoproteins . |
[
{
"name": "hypobetalipoproteinemia",
"pos": [
13,
36
],
"type": "Disease"
},
{
"name": "coronary vascular disease",
"pos": [
95,
120
],
"type": "Disease"
}
] | A benefit of hypobetalipoproteinemia is that mildly affected individuals may be protected from coronary vascular disease . |
[] | We have used gene targeting to generate mice with a modified Apob allele . |
[
{
"name": "hypobetalipoproteinemia",
"pos": [
66,
89
],
"type": "Disease"
}
] | Mice containing this allele display all of the hallmarks of human hypobetalipoproteinemia they produce a truncated apoB protein , apoB70 , and have markedly decreased plasma concentrations of apoB , beta - lipoproteins , and total cholesterol . |
[
{
"name": "hypobetalipoproteinemia",
"pos": [
96,
119
],
"type": "Disease"
},
{
"name": "chylomicronemia",
"pos": [
185,
200
],
"type": "Disease"
}
] | In addition , the mice manifest several characteristics that are occasionally observed in human hypobetalipoproteinemia , including reduced plasma triglyceride concentrations , fasting chylomicronemia , and reduced high density lipoprotein cholesterol . |
[
{
"name": "exencephalus",
"pos": [
83,
95
],
"type": "Disease"
},
{
"name": "hydrocephalus",
"pos": [
100,
113
],
"type": "Disease"
}
] | An unexpected finding is that the modified Apob allele is strongly associated with exencephalus and hydrocephalus . |
[
{
"name": "hypobetalipoproteinemia",
"pos": [
53,
76
],
"type": "Disease"
},
{
"name": "atherogenesis",
"pos": [
79,
92
],
"type": "Disease"
},
{
"name": "exencephalus",
"pos": [
115,
127
],
"type": "Disease"
},
{
"name": "hydrocephalus",
"pos": [
132,
145
],
"type": "Disease"
}
] | These mice should help increase our understanding of hypobetalipoproteinemia , atherogenesis , and the etiology of exencephalus and hydrocephalus . . |
[
{
"name": "deficiency of mitochondrial very - long - chain acyl - CoA dehydrogenase",
"pos": [
21,
93
],
"type": "Disease"
}
] | A novel disease with deficiency of mitochondrial very - long - chain acyl - CoA dehydrogenase . |
[] | Palmitoyl - CoA dehydrogenase activity in skin fibroblasts from seven patients with unidentified defects of fatty acid oxidation was measured in the presence and absence of antibodies against medium - chain , long - chain , and very - long - chain acyl - CoA dehydrogenases ( VLCAD ) . |
[
{
"name": "VLCAD deficiency",
"pos": [
82,
98
],
"type": "Disease"
}
] | Two of the patients , 4 - 5 month old boys , were found to have a novel disease , VLCAD deficiency , as judged from the results of very low palmitoyl - CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCAD . . |
[
{
"name": "glucose - 6 - phosphate dehydrogenase ( G6PD ) deficiency",
"pos": [
30,
87
],
"type": "Disease"
}
] | Molecular characterization of glucose - 6 - phosphate dehydrogenase ( G6PD ) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene . |
[
{
"name": "glucose - 6 - phosphate dehydrogenase ( G6PD ) - deficient",
"pos": [
43,
101
],
"type": "Disease"
}
] | The underlying DNA changes associated with glucose - 6 - phosphate dehydrogenase ( G6PD ) - deficient Asians have not been extensively investigated . |
[
{
"name": "G6PD - deficient",
"pos": [
52,
68
],
"type": "Disease"
}
] | To fill this gap , we sequenced the G6PD gene of 43 G6PD - deficient Chinese whose G6PD was well characterized biochemically . |
[] | DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction ( PCR ) sequencing procedure . |
[] | From these 43 samples , we have identified five different types of nucleotide substitutions in the G6PD gene at cDNA 1388 from G to A ( Arg to His ) ; at cDNA 1376 from G to T ( Arg to Leu ) ; at cDNA 1024 from C to T ( Leu to Phe ) ; at cDNA 392 from G to T ( Gly to Val ) ; at cDNA 95 from A to G ( His to Arg ) . |
[
{
"name": "G6PD - deficient",
"pos": [
68,
84
],
"type": "Disease"
}
] | These five nucleotide substitutions account for over 83 % of our 43 G6PD - deficient samples and these substitutions have not been reported in non - Asians . |
[] | The substitutions found at cDNA 392 and cDNA 1024 are new findings . |
[
{
"name": "G6PD - deficient",
"pos": [
145,
161
],
"type": "Disease"
}
] | The substitutions at cDNA 1376 and 1388 account for over 50 % of the 43 samples examined indicating a high prevalence of these two alleles among G6PD - deficient Chinese . |
[
{
"name": "G6PD deficiency",
"pos": [
132,
147
],
"type": "Disease"
}
] | Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency . . |
[
{
"name": "choroideremia",
"pos": [
38,
51
],
"type": "Disease"
}
] | Identification of mutations in Danish choroideremia families . |
[
{
"name": "choroideremia",
"pos": [
38,
51
],
"type": "Disease"
},
{
"name": "CHM",
"pos": [
59,
62
],
"type": "Disease"
},
{
"name": "CHM",
"pos": [
110,
113
],
"type": "Disease"
}
] | We have searched for mutations in the choroideremia gene ( CHM ) in patients from 12 Danish families in which CHM is segregating . |
[] | Employing polymerase chain reaction ( PCR ) , single strand conformation polymorphism ( SSCP ) analysis , and direct DNA sequencing , different mutations have been identified in 6 patients . |
[] | All the mutations will interfere with the correct translation of the mRNA predicting a truncated protein or no gene product at all . . |
[
{
"name": "myotonic dystrophy",
"pos": [
38,
56
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
59,
61
],
"type": "Disease"
}
] | Structure and genomic sequence of the myotonic dystrophy ( DM kinase ) gene . |
[
{
"name": "myotonic dystrophy",
"pos": [
21,
39
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
42,
44
],
"type": "Disease"
}
] | The mutation causing myotonic dystrophy ( DM ) has recently been identified as an unstable CTG trinucleotide repeat located in the 3 untranslated region of a gene encoding for a protein with putative serine - threonine protein kinase activity . |
[
{
"name": "DM",
"pos": [
72,
74
],
"type": "Disease"
}
] | In this report we present the genomic sequences of the human and murine DM kinase gene . |
[
{
"name": "DM",
"pos": [
194,
196
],
"type": "Disease"
}
] | A comparison of these sequences with each other and with known cDNA sequences from both species , led us to predict a translation initiation codon , as well as determine the organization of the DM kinase gene . |
[
{
"name": "DM",
"pos": [
39,
41
],
"type": "Disease"
}
] | Several polymorphisms within the human DM kinase gene have been identified , and PCR assays to detect two of these are described . |
[
{
"name": "DM",
"pos": [
67,
69
],
"type": "Disease"
},
{
"name": "myotonic dystrophy",
"pos": [
229,
247
],
"type": "Disease"
}
] | The complete sequence and characterization of the structure of the DM kinase gene , as well as the identification of novel polymorphisms within the gene , represent an important step in a further understanding of the genetics of myotonic dystrophy and the molecular biology of the gene . . |
[
{
"name": "hemophilia A",
"pos": [
36,
48
],
"type": "Disease"
},
{
"name": "von Willebrand",
"pos": [
58,
72
],
"type": "Disease"
}
] | Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation . |
[
{
"name": "genetic bleeding disorders",
"pos": [
34,
60
],
"type": "Disease"
},
{
"name": "hemophilia A",
"pos": [
63,
75
],
"type": "Disease"
},
{
"name": "von Willebrand disease",
"pos": [
80,
102
],
"type": "Disease"
},
{
"name": "von Willebrand",
"pos": [
199,
213
],
"type": "Disease"
}
] | The differential diagnosis of the genetic bleeding disorders , hemophilia A and von Willebrand disease , is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor ( vWF ) . |
[
{
"name": "hemophilia A",
"pos": [
53,
65
],
"type": "Disease"
}
] | This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding . |
[] | The proband was a female patient with low levels of factor VIII activity . |
[] | Polymerase chain reaction ( PCR ) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF . |
[] | The patient was found to be homozygous for a single point mutation causing a Thr - - > Met substitution at amino acid position 28 in the mature vWF subunit . |
[] | The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected . |
[] | Recombinant vWF containing the observed amino acid substitution was expressed in COS - 1 cells . |
[] | The mutant vWF was processed and secreted normally , and was functionally equivalent to wild - type vWF in its ability to bind to platelets . |
[
{
"name": "hemophilia",
"pos": [
123,
133
],
"type": "Disease"
}
] | However , the mutant failed to bind factor VIII , demonstrating that the mutation was functionally related to the observed hemophilia phenotype . |
[
{
"name": "hemophilia",
"pos": [
145,
155
],
"type": "Disease"
}
] | The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders , we call " autosomal hemophilia . |
[
{
"name": "hemophilia",
"pos": [
68,
78
],
"type": "Disease"
}
] | " We conclude that vWF mutation may be an under recognized cause of hemophilia , especially in cases where the inheritance pattern is not consistent with X - linked transmission . |
[
{
"name": "von Hippel - Lindau",
"pos": [
8,
27
],
"type": "Disease"
},
{
"name": "papillary cystadenoma of the epididymis",
"pos": [
51,
90
],
"type": "Disease"
}
] | Somatic von Hippel - Lindau mutation in clear cell papillary cystadenoma of the epididymis . |
[
{
"name": "Papillary cystadenoma of the epididymis",
"pos": [
0,
39
],
"type": "Disease"
},
{
"name": "von Hippel - Lindau ( VHL ) disease",
"pos": [
122,
157
],
"type": "Disease"
}
] | Papillary cystadenoma of the epididymis is an uncommon benign lesion that may occur sporadically or as a manifestation of von Hippel - Lindau ( VHL ) disease . |
[
{
"name": "VHL",
"pos": [
74,
77
],
"type": "Disease"
}
] | Neither immunohistochemical studies nor molecular genetic analyses of the VHL gene have been reported previously for this lesion . |
[
{
"name": "papillary cystadenoma of the epididymis",
"pos": [
45,
84
],
"type": "Disease"
},
{
"name": "metastatic renal cell carcinoma",
"pos": [
130,
161
],
"type": "Disease"
}
] | The authors describe two cases of clear cell papillary cystadenoma of the epididymis , both of which were initially confused with metastatic renal cell carcinoma . |
[] | Both lesions showed positive immunohistochemical staining for low and intermediate molecular weight keratins ( Cam 5 . 2 and AE1 / AE3 ) , EMA , vimentin , alpha 1 - antitrypsin , and alpha 1 - antichymotrypsin . |
[] | Each was negative for CEA . |
[
{
"name": "papillary cystadenoma",
"pos": [
19,
40
],
"type": "Disease"
},
{
"name": "renal cell carcinoma",
"pos": [
55,
75
],
"type": "Disease"
},
{
"name": "von Hippel - Lindau disease",
"pos": [
137,
164
],
"type": "Disease"
},
{
"name": "VHL",
"pos": [
244,
247
],
"type": "Disease"
}
] | Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically , and because both occur as components of the von Hippel - Lindau disease complex , the authors analyzed both cases for the presence of mutations in the VHL gene . |
Subsets and Splits