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" ]