sentence
stringlengths 1
68k
| entities
listlengths 0
637
| dataset
stringclasses 26
values | types
listlengths 1
21
|
|---|---|---|---|
This study shows that on rare occasions mutations in other , as - yet - undefined genes can present with a clinical phenotype very similar to that of HD
|
[] |
ncbi
|
[
"Disease"
] |
Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers .
|
[
{
"name": "advanced prostate cancers",
"pos": [
74,
99
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Prostatic tissue specimens derived from transurethral resections of patients with metastatic prostate cancer were analyzed for genetic alterations in the hormone - binding domain of the androgen receptor ( AR ) gene .
|
[
{
"name": "metastatic prostate cancer",
"pos": [
82,
108
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Direct sequencing of the polymerase chain reaction - derived DNAs of 6 of 24 specimens revealed a codon 877 mutation ( ACT - - > GCT , Thr - - > Ala ) in the hormone - binding domain of the AR gene .
|
[] |
ncbi
|
[
"Disease"
] |
This same AR mutation has been reported previously in a metastatic prostate cancer cell line , LNCaP , where this mutation confers upon the AR an altered ligand - binding specificity which is stimulated by estrogens , progestagens , and antiandrogens .
|
[
{
"name": "metastatic prostate cancer",
"pos": [
56,
82
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It is possible that analogous to an activated / altered growth factor receptor oncogene , codon 877 mutant AR with altered ligand binding may provide a selective growth advantage in the genesis of a subset of advanced prostate cancer .
|
[
{
"name": "advanced prostate cancer",
"pos": [
209,
233
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Although estrogens are used infrequently , antiandrogens are used increasingly in hormonal therapy for patients with advanced prostate cancer .
|
[
{
"name": "advanced prostate cancer",
"pos": [
117,
141
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The stimulatory effect of these therapeutic agents on the codon 877 mutant AR further suggests that this frequently observed AR mutation may contribute to the treatment refractory disease . .
|
[] |
ncbi
|
[
"Disease"
] |
The human gene for alkaptonuria ( AKU ) maps to chromosome 3q .
|
[
{
"name": "alkaptonuria",
"pos": [
19,
31
],
"type": "Disease"
},
{
"name": "AKU",
"pos": [
34,
37
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Alkaptonuria ( AKU ; McKusick no . 203500 ) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity .
|
[
{
"name": "Alkaptonuria",
"pos": [
0,
12
],
"type": "Disease"
},
{
"name": "AKU",
"pos": [
15,
18
],
"type": "Disease"
},
{
"name": "autosomal recessive disorder",
"pos": [
54,
82
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues .
|
[] |
ncbi
|
[
"Disease"
] |
Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy , dark urine , pigment changes of the skin , and other clinical features .
|
[
{
"name": "Ochronosis",
"pos": [
0,
10
],
"type": "Disease"
},
{
"name": "ochronotic arthropathy",
"pos": [
78,
100
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A mutation causing alkaptonuria in the mouse has mapped to chromosome 16 .
|
[
{
"name": "alkaptonuria",
"pos": [
19,
31
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Considering conserved synteny , we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin . .
|
[
{
"name": "alkaptonuria",
"pos": [
91,
103
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Structure of the human Na + / glucose cotransporter gene SGLT1 .
|
[] |
ncbi
|
[
"Disease"
] |
Intestinal uptake of dietary glucose and galactose is mediated by the SGLT1 Na + / glucose cotransporter of the brush border .
|
[] |
ncbi
|
[
"Disease"
] |
An SGLT1 missense mutation underlies hereditary glucose / galactose malabsorption , characterized by potentially fatal diarrhea ; conversely , oral rehydration therapy exploits normal transport to alleviate life - threatening diarrhea of infectious origin .
|
[
{
"name": "hereditary glucose / galactose malabsorption",
"pos": [
37,
81
],
"type": "Disease"
},
{
"name": "diarrhea",
"pos": [
119,
127
],
"type": "Disease"
},
{
"name": "diarrhea",
"pos": [
226,
234
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have mapped the entire human SGLT1 Na + / glucose cotransporter gene from cosmid and lambda phage clones representing a genomic region of 112 kilobases .
|
[] |
ncbi
|
[
"Disease"
] |
Transcription initiation occurred from a site 27 base pairs 3 of a TATAA sequence .
|
[] |
ncbi
|
[
"Disease"
] |
All exon - flanking regions were sequenced , and the entire 112 - kilobase region mapped with four restriction enzymes .
|
[] |
ncbi
|
[
"Disease"
] |
SGLT1 is comprised of 15 exons ( spanning 72 kilobases ) ; a possible evolutionary origin from a six - membrane - span ancestral precursor via a gene duplication event is suggested from comparison of exons against protein secondary structure and from sequence considerations .
|
[] |
ncbi
|
[
"Disease"
] |
A new missense mutation in exon 1 causing glucose / galactose malabsorption is also described .
|
[
{
"name": "glucose / galactose malabsorption",
"pos": [
42,
75
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This is the first Na ( + ) - dependent cotransporter gene structure reported .
|
[] |
ncbi
|
[
"Disease"
] |
These data facilitate the search for new glucose / galactose malabsorption - related mutations in this important gene and provide a basis for future evolutionary comparisons with other Na ( + ) - dependent cotransporters . .
|
[
{
"name": "glucose / galactose malabsorption",
"pos": [
41,
74
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Four novel PEPD alleles causing prolidase deficiency .
|
[
{
"name": "prolidase deficiency",
"pos": [
32,
52
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations at the PEPD locus cause prolidase deficiency ( McKusick 170100 ) , a rare autosomal recessive disorder characterized by iminodipeptiduria , skin ulcers , mental retardation , and recurrent infections .
|
[
{
"name": "prolidase deficiency",
"pos": [
34,
54
],
"type": "Disease"
},
{
"name": "autosomal recessive disorder",
"pos": [
84,
112
],
"type": "Disease"
},
{
"name": "iminodipeptiduria",
"pos": [
130,
147
],
"type": "Disease"
},
{
"name": "skin ulcers",
"pos": [
150,
161
],
"type": "Disease"
},
{
"name": "mental retardation",
"pos": [
164,
182
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Four PEPD mutations from five severely affected individuals were characterized by analysis of reverse - transcribed , PCR - amplified ( RT - PCR ) cDNA .
|
[] |
ncbi
|
[
"Disease"
] |
We used SSCP analysis on four overlapping cDNA fragments covering the entire coding region of the PEPD gene and detected abnormal SSCP bands for the fragment spanning all or part of exons 13 - 15 in three of the probands .
|
[] |
ncbi
|
[
"Disease"
] |
Direct sequencing of the mutant cDNAs showed a G - - > A , 1342 substitution ( G448R ) in two patients and a 3 - bp deletion ( delta E452 or delta E453 ) in another .
|
[] |
ncbi
|
[
"Disease"
] |
In the other two probands the amplified products were of reduced size .
|
[] |
ncbi
|
[
"Disease"
] |
Direct sequencing of these mutant cDNAs revealed a deletion of exon 5 in one patient and of exon 7 in the other .
|
[] |
ncbi
|
[
"Disease"
] |
Intronic sequences flanking exons 5 and 7 were identified using inverse PCR followed by direct sequencing .
|
[] |
ncbi
|
[
"Disease"
] |
Conventional PCR and direct sequencing then established the intron - exon borders of the mutant genomic DNA revealing two splice acceptor mutations a G - - > C substitution at position - 1 of intron 4 and an A - - > G substitution at position - 2 of intron 6 .
|
[] |
ncbi
|
[
"Disease"
] |
Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles .
|
[
{
"name": "prolidase deficiency",
"pos": [
45,
65
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In this report we attempt to begin the process of describing these alleles and cataloging their phenotypic expression . .
|
[] |
ncbi
|
[
"Disease"
] |
Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450 - kb interval .
|
[
{
"name": "Friedreich ataxia",
"pos": [
65,
82
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The locus for Friedreich ataxia ( FRDA ) , a severe neurodegenerative disease , is tightly linked to markers D9S5 and D9S15 , and analysis of rare recombination events has suggested the order cen - FRDA - D9S5 - D9S15 - qter .
|
[
{
"name": "Friedreich ataxia",
"pos": [
14,
31
],
"type": "Disease"
},
{
"name": "FRDA",
"pos": [
34,
38
],
"type": "Disease"
},
{
"name": "neurodegenerative disease",
"pos": [
52,
77
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We report here the construction of a YAC contig extending 800 kb centromeric to D9S5 and the isolation of five new microsatellite markers from this region .
|
[] |
ncbi
|
[
"Disease"
] |
In order to map these markers with respect to the FRDA locus , all within a 1 - cM confidence interval , we sought to increase the genetic information of available FRDA families by considering homozygosity by descent and association with founder haplotypes in isolated populations .
|
[
{
"name": "FRDA",
"pos": [
50,
54
],
"type": "Disease"
},
{
"name": "FRDA",
"pos": [
164,
168
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This approach allowed us to identify one phase - known recombination and one probable historic recombination on haplotypes from Reunion Island patients , both of which place three of the five markers proximal to FRDA .
|
[
{
"name": "FRDA",
"pos": [
212,
216
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This represents the first identification of close FRDA flanking markers on the centromeric side .
|
[
{
"name": "FRDA",
"pos": [
50,
54
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The two other markers allowed us to narrow the breakpoint of a previously identified distal recombination that is > 180 kb from D9S5 ( 26P ) .
|
[] |
ncbi
|
[
"Disease"
] |
Taken together , the results place the FRDA locus in a 450 - kb interval , which is small enough for direct search of candidate genes .
|
[
{
"name": "FRDA",
"pos": [
39,
43
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A detailed rare cutter restriction map and a cosmid contig covering this interval were constructed and should facilitate the search of genes in this region . .
|
[] |
ncbi
|
[
"Disease"
] |
Investigation of thermoregulatory characteristics in patients with Prader - Willi syndrome .
|
[
{
"name": "Prader - Willi syndrome",
"pos": [
67,
90
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A survey instrument is used to assess temperature regulation characteristics in children with Prader - Willi syndrome ( PWS ) compared to 3 control groups sibs of PWS patients ( SIB ) , neurodevelopmentally handicapped children ( ND ) , and age and gender matched well children ( WC ) .
|
[
{
"name": "Prader - Willi syndrome",
"pos": [
94,
117
],
"type": "Disease"
},
{
"name": "PWS",
"pos": [
120,
123
],
"type": "Disease"
},
{
"name": "PWS",
"pos": [
163,
166
],
"type": "Disease"
},
{
"name": "neurodevelopmentally handicapped",
"pos": [
186,
218
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Significant differences were found between PWS patients , SIB controls , and WC controls in the prevalence of febrile convulsions , fever - associated symptoms , and temperature less than 94 degrees F .
|
[
{
"name": "PWS",
"pos": [
43,
46
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
No differences were noted in any variable between the PWS patients and the ND controls , suggesting that these abnormalities are not unique to PWS , but can occur in any neurodevelopmentally handicapped individual , further suggesting these do not necessarily reflect syndrome - specific hypothalamic abnormalities . .
|
[
{
"name": "PWS",
"pos": [
54,
57
],
"type": "Disease"
},
{
"name": "PWS",
"pos": [
143,
146
],
"type": "Disease"
},
{
"name": "neurodevelopmentally handicapped",
"pos": [
170,
202
],
"type": "Disease"
},
{
"name": "hypothalamic abnormalities",
"pos": [
288,
314
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Phenotypic variation including retinitis pigmentosa , pattern dystrophy , and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin / RDS gene .
|
[
{
"name": "retinitis pigmentosa",
"pos": [
31,
51
],
"type": "Disease"
},
{
"name": "pattern dystrophy",
"pos": [
54,
71
],
"type": "Disease"
},
{
"name": "fundus flavimaculatus",
"pos": [
78,
99
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
BACKGROUND AND OBJECTIVES Mutations of the peripherin / RDS gene have been reported in autosomal dominant retinitis pigmentosa , pattern macular dystrophy , and retinitis punctata albescens .
|
[
{
"name": "autosomal dominant retinitis pigmentosa",
"pos": [
87,
126
],
"type": "Disease"
},
{
"name": "macular dystrophy",
"pos": [
137,
154
],
"type": "Disease"
},
{
"name": "retinitis punctata albescens",
"pos": [
161,
189
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We report herein the occurrence of three separate phenotypes within a single family with a novel 3 - base pair deletion of codon 153 or 154 of the peripherin / RDS gene .
|
[] |
ncbi
|
[
"Disease"
] |
DESIGN Case reports with clinical features , fluorescein angiography , kinetic perimetry , electrophysiological studies , and molecular genetics .
|
[] |
ncbi
|
[
"Disease"
] |
SETTING University medical centers .
|
[] |
ncbi
|
[
"Disease"
] |
PATIENTS A 75 - year - old woman , her two daughters ( aged 44 and 50 years ) , and her 49 - year - old son were screened for peripherin / RDS mutations because of the presence of multiple phenotypes within the same family .
|
[] |
ncbi
|
[
"Disease"
] |
RESULTS The mother presented at age 63 years with a profoundly abnormal electroretinogram ( ERG ) and adult - onset retinitis pigmentosa that progressed dramatically over 12 years , with marked loss of peripheral visual field .
|
[
{
"name": "retinitis pigmentosa",
"pos": [
116,
136
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
One daughter developed pattern macular dystrophy at age 31 years .
|
[
{
"name": "pattern macular dystrophy",
"pos": [
23,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
At age 44 years , her ERG was moderately abnormal but her clinical disease was limited to the macula .
|
[] |
ncbi
|
[
"Disease"
] |
Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus .
|
[
{
"name": "macular degeneration",
"pos": [
48,
68
],
"type": "Disease"
},
{
"name": "fundus flavimaculatus",
"pos": [
121,
142
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Her peripheral visual field was preserved but her ERG was moderately abnormal .
|
[] |
ncbi
|
[
"Disease"
] |
The son had onset of macular degeneration at age 44 years .
|
[
{
"name": "macular degeneration",
"pos": [
21,
41
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Pericentral scotomas were present and the ERG was markedly abnormal .
|
[
{
"name": "Pericentral scotomas",
"pos": [
0,
20
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Fluorescein angiography revealed punctate pigment epithelial transmission defects .
|
[] |
ncbi
|
[
"Disease"
] |
CONCLUSIONS A 3 - base pair deletion of codon 153 or 154 of the peripherin / RDS gene can produce clinically disparate phenotypes even within the same family . .
|
[] |
ncbi
|
[
"Disease"
] |
Assignment of the human Na + / glucose cotransporter gene SGLT1 to chromosome 22q13 . 1 .
|
[] |
ncbi
|
[
"Disease"
] |
The Na + / glucose cotransporter gene SGLT1 encodes the primary carrier protein responsible for the uptake of the dietary sugars glucose and galactose from the intestinal lumen .
|
[] |
ncbi
|
[
"Disease"
] |
SGLT1 transport activity is currently exploited in oral rehydration therapy .
|
[] |
ncbi
|
[
"Disease"
] |
The 75 - kDa glycoprotein is localized in the brush border of the intestinal epithelium and is predicted to comprise 12 membrane spans .
|
[] |
ncbi
|
[
"Disease"
] |
In two patients with the autosomal recessive disease glucose / galactose malabsorption , the underlying cause was found to be a missense mutation in SGLT1 , and the Asp28 - - > Asn change was demonstrated in vitro to eliminate SGLT1 transport activity .
|
[
{
"name": "autosomal recessive disease glucose / galactose malabsorption",
"pos": [
25,
86
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The SGLT1 gene was previously shown to reside on the distal q arm of chromosome 22 ( 11 . 2 - - > qter ) .
|
[] |
ncbi
|
[
"Disease"
] |
We have used a cosmid probe for fluorescence in situ hybridization , which refines the localization to 22q13 .
|
[] |
ncbi
|
[
"Disease"
] |
1 , and provide an example of the utility of the SGLT1 probe as a diagnostic for genetic diseases associated with translocations of chromosome 22 .
|
[
{
"name": "genetic diseases",
"pos": [
81,
97
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients .
|
[
{
"name": "APC",
"pos": [
63,
66
],
"type": "Disease"
},
{
"name": "adenomatous polyposis coli",
"pos": [
80,
106
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In humans , alteration of the tumor suppressor gene , APC , causes adenomatous polyposis coli , a condition causing predisposition to colorectal cancer .
|
[
{
"name": "tumor",
"pos": [
30,
35
],
"type": "Disease"
},
{
"name": "APC",
"pos": [
54,
57
],
"type": "Disease"
},
{
"name": "adenomatous polyposis coli",
"pos": [
67,
93
],
"type": "Disease"
},
{
"name": "colorectal cancer",
"pos": [
134,
151
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The syndrome inconsistently associates characteristic patches of congenital hypertrophy of the retinal pigment epithelium ( CHRPE ) .
|
[
{
"name": "congenital hypertrophy of the retinal pigment epithelium",
"pos": [
65,
121
],
"type": "Disease"
},
{
"name": "CHRPE",
"pos": [
124,
129
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Ocular examination revealed that patients expressing CHRPE tend to cluster within specific families .
|
[
{
"name": "CHRPE",
"pos": [
53,
58
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The exact APC mutation was identified in 42 unrelated patients .
|
[
{
"name": "APC",
"pos": [
10,
13
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In all cases these mutations were predicted to lead to the synthesis of a truncated protein .
|
[] |
ncbi
|
[
"Disease"
] |
The extent of CHRPE was found to be dependent on the position of the mutation along the coding sequence .
|
[
{
"name": "CHRPE",
"pos": [
14,
19
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
CHRPE lesions are almost always absent if the mutation occurs before exon 9 , but are systematically present if it occurs after this exon .
|
[
{
"name": "CHRPE",
"pos": [
0,
5
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Thus , the range of phenotypic expression observed among affected patients may result in part from different allelic manifestations of APC mutations . .
|
[
{
"name": "APC",
"pos": [
135,
138
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The effects of dystrophin gene mutations on the ERG in mice and humans .
|
[] |
ncbi
|
[
"Disease"
] |
PURPOSE .
|
[] |
ncbi
|
[
"Disease"
] |
The authors earlier findings of a negative electroretinogram ( ERG ) in a boy with Duchenne muscular dystrophy ( DMD ) led them to investigate dystrophin gene deletions and ERGs in five boys with DMD .
|
[
{
"name": "Duchenne muscular dystrophy",
"pos": [
83,
110
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
113,
116
],
"type": "Disease"
},
{
"name": "DMD",
"pos": [
196,
199
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The authors wanted to determined whether there were similar ERG findings in an animal model for DMD , the mdx mouse .
|
[
{
"name": "DMD",
"pos": [
96,
99
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
METHODS .
|
[] |
ncbi
|
[
"Disease"
] |
Ganzfeld ERGs were recorded in five boys with DMD after a complete ophthalmic examination .
|
[
{
"name": "DMD",
"pos": [
46,
49
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The dystrophin gene was analyzed by Southern blot hybridization .
|
[] |
ncbi
|
[
"Disease"
] |
ERGs were recorded in anesthetized mdx and control mice with a modified Grass photostimulator ( Grass Instrument Company , Quincy , MA ) .
|
[] |
ncbi
|
[
"Disease"
] |
RESULTS .
|
[] |
ncbi
|
[
"Disease"
] |
Ophthalmic examinations in all five boys had normal findings , yet an abnormal negative ERG was recorded for each subject .
|
[] |
ncbi
|
[
"Disease"
] |
The subjects gene deletions were variable , ranging from large deletions to no detectable deletions .
|
[] |
ncbi
|
[
"Disease"
] |
The ERGs of the mdx mice were normal and did not differ significantly from those of the control mice .
|
[] |
ncbi
|
[
"Disease"
] |
CONCLUSIONS .
|
[] |
ncbi
|
[
"Disease"
] |
The authors believe the unique ERG recorded for the human subjects is a manifestation of DMD associated with defects at the dystrophin gene locus and represents a new clinical entity .
|
[
{
"name": "DMD",
"pos": [
89,
92
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The ERG of the mdx mouse may be spared for several reasons , including milder effects of the mouse gene defect , differences in muscle and retinal gene product , or species differences in the biochemical role of dystrophin .
|
[] |
ncbi
|
[
"Disease"
] |
The ERG shows promise of becoming a noninvasive diagnostic tool for DMD and its milder allelic forms . .
|
[
{
"name": "DMD",
"pos": [
68,
71
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Association of the APC tumor suppressor protein with catenins .
|
[
{
"name": "APC tumor",
"pos": [
19,
28
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations of APC appear to initiate sporadic and inherited forms of human colorectal cancer .
|
[
{
"name": "colorectal cancer",
"pos": [
74,
91
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Although these mutations have been well characterized , little is known about the function of the APC gene product .
|
[
{
"name": "APC",
"pos": [
98,
101
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Two cellular proteins that associate with APC were identified by nucleotide sequence analysis and peptide mapping as the E - cadherin - associated proteins alpha - and beta - catenin .
|
[
{
"name": "APC",
"pos": [
42,
45
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.