sentence
stringlengths 1
68k
| entities
listlengths 0
637
| dataset
stringclasses 26
values | types
listlengths 1
21
|
|---|---|---|---|
The normal Huntington disease ( HD ) allele , or a closely linked gene , influences age at onset of HD .
|
[
{
"name": "Huntington disease",
"pos": [
11,
29
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
32,
34
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
100,
102
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We evaluated the hypothesis that Huntington disease ( HD ) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent against age at onset in the affected offspring .
|
[
{
"name": "Huntington disease",
"pos": [
33,
51
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
54,
56
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
87,
89
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Analysis of information from 21 sibships in 14 kindreds showed a significant tendency for sibs who have similar onset ages to share the same D4S10 allele from the normal parent .
|
[] |
ncbi
|
[
"Disease"
] |
Affected sibs who inherited different D4S10 alleles from the normal parent tended to have more variable ages at onset .
|
[] |
ncbi
|
[
"Disease"
] |
These findings suggest that the expression of HD is modulated by the normal HD allele or by a closely linked locus . .
|
[
{
"name": "HD",
"pos": [
46,
48
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
76,
78
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non - Jewish Tay - Sachs disease patients from the British Isles .
|
[
{
"name": "Tay - Sachs disease",
"pos": [
108,
127
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In a previous study we found that a Tay - Sachs disease ( TSD ) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non - Jewish patients and carriers from the British Isles .
|
[
{
"name": "Tay - Sachs disease",
"pos": [
36,
55
],
"type": "Disease"
},
{
"name": "TSD",
"pos": [
58,
61
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It was found more frequently in subjects of Irish , Scottish , and Welsh origin compared with English origin ( 63 % and 31 % respectively ) .
|
[] |
ncbi
|
[
"Disease"
] |
We have now tested , in a blind study , 26 American TSD carriers and 28 non - carriers who have British ancestry for the intron 9 splice site mutation .
|
[
{
"name": "TSD",
"pos": [
52,
55
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Six of the carriers and none of the controls were positive for the mutation .
|
[] |
ncbi
|
[
"Disease"
] |
All six had Irish ancestry , compared with nine of the 20 other ( intron 9 mutation negative ) TSD carriers ( p < 0 . 05 ) .
|
[
{
"name": "TSD",
"pos": [
95,
98
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These results confirm the previously found high frequency of the intron 9 mutation in non - Jewish TSD families of British Isles , particularly Irish , origin , and reinforce the need to screen such families for this mutation .
|
[
{
"name": "TSD",
"pos": [
99,
102
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma .
|
[
{
"name": "tumors",
"pos": [
47,
53
],
"type": "Disease"
},
{
"name": "bilateral and unilateral retinoblastoma",
"pos": [
73,
112
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon - by - exon with the single - strand conformation polymorphism technique .
|
[
{
"name": "retinoblastoma tumors",
"pos": [
27,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations were found in all tumors , and one - third of the tumors had independent mutations in both alleles neither of which were found in the germ line , confirming their true sporadic nature .
|
[
{
"name": "tumors",
"pos": [
28,
34
],
"type": "Disease"
},
{
"name": "tumors",
"pos": [
60,
66
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In the remaining two - thirds of the tumors only one mutation was found , consistent with the loss - of - heterozygosity theory of tumorigenesis .
|
[
{
"name": "tumors",
"pos": [
37,
43
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Point mutations , the majority of which were C - - > T transitions , were the most common abnormality and usually resulted in the conversion of an arginine codon to a stop codon .
|
[] |
ncbi
|
[
"Disease"
] |
Small deletions were the second most common abnormality and most often created a downstream stop codon as the result of a reading frameshift .
|
[] |
ncbi
|
[
"Disease"
] |
Deletions and point mutations also affected splice junctions .
|
[] |
ncbi
|
[
"Disease"
] |
Direct repeats were present at the breakpoint junctions in the majority of deletions , supporting a slipped - mispairing mechanism .
|
[] |
ncbi
|
[
"Disease"
] |
Point mutations generally produced DNA sequences which resulted in perfect homology with endogenous sequences which lay within 14 bp . .
|
[] |
ncbi
|
[
"Disease"
] |
PAX6 mutations in aniridia .
|
[
{
"name": "aniridia",
"pos": [
18,
26
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Aniridia is a congenital malformation of the eye , chiefly characterised by iris hypoplasia , which can cause blindness .
|
[
{
"name": "Aniridia",
"pos": [
0,
8
],
"type": "Disease"
},
{
"name": "congenital malformation of the eye",
"pos": [
14,
48
],
"type": "Disease"
},
{
"name": "iris hypoplasia",
"pos": [
76,
91
],
"type": "Disease"
},
{
"name": "blindness",
"pos": [
110,
119
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia - associated deletions .
|
[
{
"name": "aniridia",
"pos": [
42,
50
],
"type": "Disease"
},
{
"name": "aniridia",
"pos": [
117,
125
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Subsequently PAX6 intragenic mutations were demonstrated in Smalleye , a mouse mutant which is an animal model for aniridia , and six human aniridia patients .
|
[
{
"name": "aniridia",
"pos": [
115,
123
],
"type": "Disease"
},
{
"name": "aniridia",
"pos": [
140,
148
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In this paper we describe four additional PAX6 point mutations in aniridia patients , both sporadic and familial .
|
[
{
"name": "aniridia",
"pos": [
66,
74
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These mutations highlight regions of the gene which are essential for normal PAX6 function .
|
[] |
ncbi
|
[
"Disease"
] |
In addition , the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia . .
|
[
{
"name": "aniridia",
"pos": [
127,
135
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting .
|
[] |
ncbi
|
[
"Disease"
] |
Autosomal dominant neurohypophyseal diabetes insipidus is a familial form of diabetes insipidus .
|
[
{
"name": "Autosomal dominant neurohypophyseal diabetes insipidus",
"pos": [
0,
54
],
"type": "Disease"
},
{
"name": "diabetes insipidus",
"pos": [
77,
95
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This disorder is associated with variable levels of arginine vasopressin ( AVP ) and diabetes insipidus of varying severity , which responds to exogenous AVP .
|
[
{
"name": "diabetes insipidus",
"pos": [
85,
103
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To determine the molecular basis of autosomal dominant neurohypophyseal diabetes insipidus , the AVP genes of members of a large kindred were analyzed .
|
[
{
"name": "autosomal dominant neurohypophyseal diabetes insipidus",
"pos": [
36,
90
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A new method , called dideoxy fingerprinting , was used to detect an AVP mutation that was characterized by DNA sequencing .
|
[] |
ncbi
|
[
"Disease"
] |
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 . .
|
[] |
ncbi
|
[
"Disease"
] |
Germinal mosaicism in a Duchenne muscular dystrophy family : implications for genetic counselling .
|
[
{
"name": "Duchenne muscular dystrophy",
"pos": [
24,
51
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In this study we describe a three - generation family in which two siblings were affected by Duchenne muscular dystrophy ( DMD ) .
|
[
{
"name": "Duchenne muscular dystrophy",
"pos": [
93,
120
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
123,
126
],
"type": "Disease"
}
] |
ncbi
|
[
"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": [
80,
83
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
134,
137
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These findings indicate that the grandfather was a germinal mosaic for the DMD gene .
|
[
{
"name": "DMD",
"pos": [
75,
78
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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 .
|
[] |
ncbi
|
[
"Disease"
] |
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 . .
|
[] |
ncbi
|
[
"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": "breast - ovarian cancer syndrome",
"pos": [
23,
55
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A susceptibility gene for hereditary breast - ovarian cancer , BRCA1 , has been assigned by linkage analysis to chromosome 17q21 .
|
[
{
"name": "hereditary breast - ovarian cancer",
"pos": [
26,
60
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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 .
|
[] |
ncbi
|
[
"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 and breast - ovarian cancer",
"pos": [
17,
51
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Genetic recombination with the breast cancer trait excludes RARA from further consideration as a candidate gene for BRCA1 .
|
[
{
"name": "breast cancer",
"pos": [
31,
44
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Both BRCA1 and EDH17B2 map to a 6 cM interval ( between THRA1 and D17S579 ) and no recombination was observed between the two genes .
|
[] |
ncbi
|
[
"Disease"
] |
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 .
|
[] |
ncbi
|
[
"Disease"
] |
Mutations in the EDH17B2 gene , therefore do not appear to be responsible for the hereditary breast - ovarian cancer syndrome .
|
[
{
"name": "hereditary breast - ovarian cancer syndrome",
"pos": [
82,
125
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Single meiotic crossovers in affected women suggest that BRCA1 is flanked by the loci RARA and D17S78 . .
|
[] |
ncbi
|
[
"Disease"
] |
A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins .
|
[] |
ncbi
|
[
"Disease"
] |
Plasma HDL are a negative risk factor for atherosclerosis .
|
[
{
"name": "atherosclerosis",
"pos": [
42,
57
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Cholesteryl ester transfer protein ( CETP ; 476 amino acids ) transfers cholesteryl ester from HDL to other lipoproteins .
|
[] |
ncbi
|
[
"Disease"
] |
Subjects with homozygous CETP deficiency caused by a gene splicing defect have markedly elevated HDL ; however , heterozygotes have only mild increases in HDL .
|
[
{
"name": "CETP deficiency",
"pos": [
25,
40
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We describe two probands with a CETP missense mutation ( 442 D G ) .
|
[] |
ncbi
|
[
"Disease"
] |
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 .
|
[] |
ncbi
|
[
"Disease"
] |
Cellular expression of mutant cDNA results in secretion of only 30 % of wild type CETP activity .
|
[] |
ncbi
|
[
"Disease"
] |
Moreover , coexpression of wild type and mutant cDNAs leads to inhibition of wild type secretion and activity .
|
[] |
ncbi
|
[
"Disease"
] |
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 . .
|
[] |
ncbi
|
[
"Disease"
] |
Familial Mediterranean fever in the colchicine era : the fate of one family .
|
[
{
"name": "Familial Mediterranean fever",
"pos": [
0,
28
],
"type": "Disease"
}
] |
ncbi
|
[
"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": "familial Mediterranean fever",
"pos": [
98,
126
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
129,
132
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
196,
199
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Each patient represents a different stage of the amyloidotic kidney disease of FMF and the effect of continuous colchicine treatment on its course .
|
[
{
"name": "amyloidotic kidney disease",
"pos": [
49,
75
],
"type": "Disease"
},
{
"name": "FMF",
"pos": [
79,
82
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Considered together , the members of this family present an almost complete clinical , genetic , and behavioral picture of the disease . .
|
[] |
ncbi
|
[
"Disease"
] |
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning .
|
[
{
"name": "Norrie disease",
"pos": [
34,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11 .
|
[] |
ncbi
|
[
"Disease"
] |
4 - - > p11 .
|
[] |
ncbi
|
[
"Disease"
] |
21 region of the human X chromosome .
|
[] |
ncbi
|
[
"Disease"
] |
This novel sequence , cpXr318 ( DXS742 ) , detects a new submicroscopic deletion interval at the Norrie disease locus ( NDP ) .
|
[
{
"name": "Norrie disease",
"pos": [
97,
111
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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 .
|
[] |
ncbi
|
[
"Disease"
] |
The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence - tagged sites .
|
[] |
ncbi
|
[
"Disease"
] |
Finally , DXS742 , DSX7 , DXS77 , and MAOA were integrated into a physical map spanning the Norrie disease locus
|
[
{
"name": "Norrie disease",
"pos": [
92,
106
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Putative X - linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters .
|
[
{
"name": "X - linked adrenoleukodystrophy",
"pos": [
9,
40
],
"type": "Disease"
}
] |
ncbi
|
[
"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": "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"
}
] |
ncbi
|
[
"Disease"
] |
Childhood ALD is the more severe form , with onset of neurological symptoms between 5 - 12 years of age .
|
[
{
"name": "ALD",
"pos": [
10,
13
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Central nervous system demyelination progresses rapidly and death occurs within a few years .
|
[
{
"name": "Central nervous system demyelination",
"pos": [
0,
36
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
AMN is a milder form of the disease with onset at 15 - 30 years of age and a more progressive course .
|
[
{
"name": "AMN",
"pos": [
0,
3
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Adrenal insufficiency ( Addisons disease ) may remain the only clinical manifestation of ALD .
|
[
{
"name": "Adrenal insufficiency",
"pos": [
0,
21
],
"type": "Disease"
},
{
"name": "Addisons disease",
"pos": [
24,
40
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
89,
92
],
"type": "Disease"
}
] |
ncbi
|
[
"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": [
41,
44
],
"type": "Disease"
}
] |
ncbi
|
[
"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": [
152,
155
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Here we use positional cloning to identify a gene partially deleted in 6 of 85 independent patients with ALD .
|
[
{
"name": "ALD",
"pos": [
105,
108
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In familial cases , the deletions segregated with the disease .
|
[] |
ncbi
|
[
"Disease"
] |
An identical deletion was detected in two brothers presenting with different clinical ALD phenotypes .
|
[
{
"name": "ALD",
"pos": [
86,
89
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Candidate exons were identified by computer analysis of genomic sequences and used to isolate complementary DNAs by exon connection and screening of cDNA libraries .
|
[] |
ncbi
|
[
"Disease"
] |
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 . .
|
[] |
ncbi
|
[
"Disease"
] |
Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice .
|
[
{
"name": "hypobetalipoproteinemia",
"pos": [
62,
85
],
"type": "Disease"
},
{
"name": "developmental abnormalities",
"pos": [
90,
117
],
"type": "Disease"
}
] |
ncbi
|
[
"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": "Familial hypobetalipoproteinemia",
"pos": [
0,
32
],
"type": "Disease"
},
{
"name": "autosomal codominant disorder",
"pos": [
39,
68
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A benefit of hypobetalipoproteinemia is that mildly affected individuals may be protected from coronary vascular disease .
|
[
{
"name": "hypobetalipoproteinemia",
"pos": [
13,
36
],
"type": "Disease"
},
{
"name": "coronary vascular disease",
"pos": [
95,
120
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have used gene targeting to generate mice with a modified Apob allele .
|
[] |
ncbi
|
[
"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": [
66,
89
],
"type": "Disease"
}
] |
ncbi
|
[
"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": "hypobetalipoproteinemia",
"pos": [
96,
119
],
"type": "Disease"
},
{
"name": "chylomicronemia",
"pos": [
185,
200
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
An unexpected finding is that the modified Apob allele is strongly associated with exencephalus and hydrocephalus .
|
[
{
"name": "exencephalus",
"pos": [
83,
95
],
"type": "Disease"
},
{
"name": "hydrocephalus",
"pos": [
100,
113
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These mice should help increase our understanding of hypobetalipoproteinemia , atherogenesis , and the etiology of 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"
}
] |
ncbi
|
[
"Disease"
] |
A novel disease with deficiency of mitochondrial very - long - chain acyl - CoA dehydrogenase .
|
[
{
"name": "deficiency of mitochondrial very - long - chain acyl - CoA dehydrogenase",
"pos": [
21,
93
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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 ) .
|
[] |
ncbi
|
[
"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": "VLCAD deficiency",
"pos": [
82,
98
],
"type": "Disease"
}
] |
ncbi
|
[
"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 ) deficiency",
"pos": [
30,
87
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The underlying DNA changes associated with glucose - 6 - phosphate dehydrogenase ( G6PD ) - deficient Asians have not been extensively investigated .
|
[
{
"name": "glucose - 6 - phosphate dehydrogenase ( G6PD ) - deficient",
"pos": [
43,
101
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To fill this gap , we sequenced the G6PD gene of 43 G6PD - deficient Chinese whose G6PD was well characterized biochemically .
|
[
{
"name": "G6PD - deficient",
"pos": [
52,
68
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction ( PCR ) sequencing procedure .
|
[] |
ncbi
|
[
"Disease"
] |
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 ) .
|
[] |
ncbi
|
[
"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 .
|
[
{
"name": "G6PD - deficient",
"pos": [
68,
84
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.