sentence
stringlengths 1
68k
| entities
listlengths 0
637
| dataset
stringclasses 26
values | types
listlengths 1
21
|
---|---|---|---|
Emerin deficiency at the nuclear membrane in patients with Emery - Dreifuss muscular dystrophy .
|
[
{
"name": "Emerin deficiency",
"pos": [
0,
17
],
"type": "Disease"
},
{
"name": "Emery - Dreifuss muscular dystrophy",
"pos": [
59,
94
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations in the STA gene at the Xq28 locus have been found in patients with X - linked Emery - Dreifuss muscular dystrophy ( EDMD ) .
|
[
{
"name": "X - linked Emery - Dreifuss muscular dystrophy",
"pos": [
77,
123
],
"type": "Disease"
},
{
"name": "EDMD",
"pos": [
126,
130
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This gene encodes a hitherto unknown protein named emerin .
|
[] |
ncbi
|
[
"Disease"
] |
To elucidate the subcellular localization of emerin , we raised two antisera against synthetic peptide fragments predicted from emerin cDNA .
|
[] |
ncbi
|
[
"Disease"
] |
Using both antisera , we found positive nuclear membrane staining in skeletal , cardiac and smooth muscles in the normal controls and in patients with neuromuscular diseases other than EDMD .
|
[
{
"name": "neuromuscular diseases",
"pos": [
151,
173
],
"type": "Disease"
},
{
"name": "EDMD",
"pos": [
185,
189
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In contrast , a deficiency in immunofluorescent staining of skeletal and cardiac muscle from EDMD patients was observed .
|
[
{
"name": "EDMD",
"pos": [
93,
97
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A 34 kD protein is immunoreactive with the antisera - - the protein is equivalent to that predicted for emerin .
|
[] |
ncbi
|
[
"Disease"
] |
Together , our findings suggest the specific deficiency of emerin in the nuclear membrane of muscle cells in patients with EDMD . .
|
[
{
"name": "deficiency of emerin",
"pos": [
45,
65
],
"type": "Disease"
},
{
"name": "EDMD",
"pos": [
123,
127
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Growth retardation and tumour inhibition by BRCA1 .
|
[
{
"name": "Growth retardation",
"pos": [
0,
18
],
"type": "Disease"
},
{
"name": "tumour",
"pos": [
23,
29
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Inherited mutations in BRCA1 predispose to breast and ovarian cancer , but the role of BRCA1 in sporadic breast and ovarian cancer has previously been elusive .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
43,
68
],
"type": "Disease"
},
{
"name": "breast and ovarian cancer",
"pos": [
105,
130
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Here , we show that retroviral transfer of the wild - type BRCA1 gene inhibits growth in vitro of all breast and ovarian cancer cell lines tested , but not colon or lung cancer cells or fibroblasts .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
102,
127
],
"type": "Disease"
},
{
"name": "colon or lung cancer",
"pos": [
156,
176
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutant BRCA1 has no effect on growth of breast cancer cells ; ovarian cancer cell growth is not affected by BRCA1 mutations in the 5 portion of the gene , but is inhibited by 3 BRCA1 mutations .
|
[
{
"name": "breast cancer",
"pos": [
40,
53
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
62,
76
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Development of MCF - 7 tumours in nude mice is inhibited when MCF - 7 cells are transfected with wild - type , but not mutant , BRCA1 .
|
[
{
"name": "MCF - 7 tumours",
"pos": [
15,
30
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Most importantly , among mice with established MCF - 7 tumours , peritoneal treatment with a retroviral vector expressing wild - type BRCA1 significantly inhibits tumour growth and increased survival . .
|
[
{
"name": "MCF - 7 tumours",
"pos": [
47,
62
],
"type": "Disease"
},
{
"name": "tumour",
"pos": [
163,
169
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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