sentence
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21
|
|---|---|---|---|
Seven mutations lead to protein truncations at sites throughout the gene .
|
[] |
ncbi
|
[
"Disease"
] |
One missense mutation ( which occurred independently in two families ) leads to loss of a cysteine in the zinc binding domain .
|
[] |
ncbi
|
[
"Disease"
] |
An intronic single basepair substitution destroys an acceptor site and activates a cryptic splice site , leading to a 59 basepair insertion and chain termination .
|
[] |
ncbi
|
[
"Disease"
] |
The four families with both breast and ovarian cancer had chain termination mutations in the N - terminal half of the protein . .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
28,
53
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation .
|
[
{
"name": "myotonic dystrophy",
"pos": [
101,
119
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The mutation causing myotonic dystrophy ( DM ) has been identified as an amplification of an unstable trinucleotide ( CTG ) n repeat in over 99 % of the global DM population .
|
[
{
"name": "myotonic dystrophy",
"pos": [
21,
39
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
42,
44
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
160,
162
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It is in complete linkage disequilibrium with an Alu element polymorphism within the DM kinase gene , suggesting that DM is a consequence of one or few ancestral mutations .
|
[
{
"name": "DM",
"pos": [
85,
87
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
118,
120
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A recent analysis utilizing this polymorphism as well as a flanking dinucleotide marker , suggested that similar to Fragile X syndrome , DM exhibited a founder effect ( Imbert et al . , 1993 Nature Genet . 4 , 72 - 76 ) .
|
[
{
"name": "Fragile X syndrome",
"pos": [
116,
134
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
137,
139
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In contrast , the low reproductive fitness of individuals with congenital DM ( the endpoint of genetic anticipation in myotonic dystrophy ) suggests a higher rate of new mutations .
|
[
{
"name": "DM",
"pos": [
74,
76
],
"type": "Disease"
},
{
"name": "myotonic dystrophy",
"pos": [
119,
137
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We present a high resolution genetic analysis of the DM locus using PCR based assays of nine polymorphisms , spanning a physical distance of 30 kb , within and immediately flanking the DM kinase gene .
|
[
{
"name": "DM",
"pos": [
53,
55
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
185,
187
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The persistent complete allelic association of the DM mutation with all these polymorphisms provides further support to previous observations and suggests more strongly that the DM mutation occurred on the background of a particular haplotype in which the ( CTG ) n repeat became inherently unstable and therefore predisposed to amplification .
|
[
{
"name": "DM",
"pos": [
51,
53
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
178,
180
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Genetic instability in human ovarian cancer cell lines .
|
[
{
"name": "ovarian cancer",
"pos": [
29,
43
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have analyzed the stability of microsatellites in cell lines derived from human ovarian cancers and found that 5 out of 10 of the ovarian tumor cell lines are genetically unstable at the majority of the loci analyzed .
|
[
{
"name": "ovarian cancers",
"pos": [
83,
98
],
"type": "Disease"
},
{
"name": "ovarian tumor",
"pos": [
133,
146
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In clones and subclones derived serially from one of these cell lines ( 2774 ; serous cystadenocarcinoma ) , a very high proportion of microsatellites distributed in many different regions of the genome change their size in a mercurial fashion .
|
[
{
"name": "serous cystadenocarcinoma",
"pos": [
79,
104
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We conclude that genomic instability in ovarian tumors is a dynamic and ongoing process whose high frequency may have been previously underestimated by PCR - based allelotyping of bulk tumor tissue .
|
[
{
"name": "ovarian tumors",
"pos": [
40,
54
],
"type": "Disease"
},
{
"name": "tumor",
"pos": [
185,
190
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have identified the source of the genetic instability in one ovarian tumor as a point mutation ( R524P ) in the human mismatch - repair gene MSH2 ( Salmonella MutS homologue ) , which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer .
|
[
{
"name": "ovarian tumor",
"pos": [
64,
77
],
"type": "Disease"
},
{
"name": "hereditary nonpolyposis colorectal cancer",
"pos": [
229,
270
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Patient 2774 was a 38 - year - old heterozygote , and her normal tissue carried both mutant and wild - type alleles of the human MSH2 gene .
|
[] |
ncbi
|
[
"Disease"
] |
However the wild - type allele was lost at some point early during tumorigenesis so that DNA isolated either from the patients ovarian tumor or from the 2774 cell line carries only the mutant allele of the human MSH2 gene .
|
[
{
"name": "ovarian tumor",
"pos": [
127,
140
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The genetic instability observed in the tumor and cell line DNA , together with the germ - line mutation in a mismatch - repair gene , suggest that the MSH2 gene is involved in the onset and / or progression in a subset of ovarian cancer . .
|
[
{
"name": "tumor",
"pos": [
40,
45
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
223,
237
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
BRCA1 mutations in primary breast and ovarian carcinomas .
|
[
{
"name": "breast and ovarian carcinomas",
"pos": [
27,
56
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Loss of heterozygosity data from familial tumors suggest that BRCA1 , a gene that confers susceptibility to ovarian and early - onset breast cancer , encodes a tumor suppressor .
|
[
{
"name": "familial tumors",
"pos": [
33,
48
],
"type": "Disease"
},
{
"name": "ovarian and early - onset",
"pos": [
108,
133
],
"type": "Disease"
},
{
"name": "breast cancer",
"pos": [
134,
147
],
"type": "Disease"
},
{
"name": "tumor",
"pos": [
160,
165
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers , an indication that BRCA1 mutations may occur somatically in these tumors .
|
[
{
"name": "sporadic breast and ovarian cancers",
"pos": [
52,
87
],
"type": "Disease"
},
{
"name": "tumors",
"pos": [
156,
162
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus .
|
[
{
"name": "breast and ovarian tumors",
"pos": [
62,
87
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas ; all four mutations were germline alterations and occurred in early - onset cancers .
|
[
{
"name": "ovarian carcinomas",
"pos": [
54,
72
],
"type": "Disease"
},
{
"name": "cancers",
"pos": [
150,
157
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele . .
|
[
{
"name": "breast and ovarian cancers",
"pos": [
103,
129
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
PAX6 gene dosage effect in a family with congenital cataracts , aniridia , anophthalmia and central nervous system defects .
|
[
{
"name": "congenital cataracts",
"pos": [
41,
61
],
"type": "Disease"
},
{
"name": "aniridia",
"pos": [
64,
72
],
"type": "Disease"
},
{
"name": "anophthalmia",
"pos": [
75,
87
],
"type": "Disease"
},
{
"name": "central nervous system defects",
"pos": [
92,
122
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The human eye malformation aniridia results from haploinsufficiency of PAX6 , a paired box DNA - binding protein .
|
[
{
"name": "aniridia",
"pos": [
27,
35
],
"type": "Disease"
},
{
"name": "haploinsufficiency of PAX6",
"pos": [
49,
75
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To study this dosage effect , we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy .
|
[
{
"name": "aniridia",
"pos": [
90,
98
],
"type": "Disease"
},
{
"name": "congenital cataracts",
"pos": [
135,
155
],
"type": "Disease"
},
{
"name": "corneal dystrophy",
"pos": [
171,
188
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The nonsense mutations , at codons 103 and 353 , truncate PAX6 within the N - terminal paired and C - terminal PST domains , respectively .
|
[] |
ncbi
|
[
"Disease"
] |
The wild - type PST domain activates transcription autonomously and the mutant form has partial activity .
|
[] |
ncbi
|
[
"Disease"
] |
A compound heterozygote had severe craniofacial and central nervous system defects and no eyes .
|
[
{
"name": "craniofacial and central nervous system defects",
"pos": [
35,
82
],
"type": "Disease"
},
{
"name": "no eyes",
"pos": [
87,
94
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The pattern of malformations is similar to that in homozygous Sey mice and suggests a critical role for PAX6 in controlling the migration and differentiation of specific neuronal progenitor cells in the brain . .
|
[] |
ncbi
|
[
"Disease"
] |
A physical map and candidate genes in the BRCA1 region on chromosome 17q12 - 21 .
|
[] |
ncbi
|
[
"Disease"
] |
We have constructed a physical map of a 4 cM region on chromosome 17q12 - 21 that contains the hereditary breast and ovarian cancer gene BRCA1 .
|
[
{
"name": "hereditary breast and ovarian cancer",
"pos": [
95,
131
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The map comprises a contig of 137 overlapping yeast artificial chromosomes and P1 clones , onto which we have placed 112 PCR markers .
|
[] |
ncbi
|
[
"Disease"
] |
We have localized more than 20 genes on this map , ten of which had not been mapped to the region previously , and have isolated 30 cDNA clones representing partial sequences of as yet unidentified genes .
|
[] |
ncbi
|
[
"Disease"
] |
Two genes that lie within a narrow region defined by meiotic breakpoints in BRCA1 patients have been sequenced in breast cancer patients without revealing any deleterious mutations .
|
[
{
"name": "breast cancer",
"pos": [
114,
127
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These new reagents should facilitate the identification of BRCA1 . .
|
[] |
ncbi
|
[
"Disease"
] |
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene .
|
[
{
"name": "Wilson disease",
"pos": [
84,
98
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The Long - Evans Cinnamon ( LEC ) rat shows similarity to Wilson disease in many clinical and biochemical features .
|
[
{
"name": "Wilson disease",
"pos": [
58,
72
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have cloned cDNAs for the rat gene ( Atp7b ) homologous to the human Wilson disease gene ( ATP7B ) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat .
|
[
{
"name": "Wilson disease",
"pos": [
72,
86
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The deletion removes at least 900 bp of the coding region at the 3 end , includes the crucial ATP binding domain and extends downstream of the gene .
|
[] |
ncbi
|
[
"Disease"
] |
Our results provide convincing evidence for defining the LEC rat as an animal model for Wilson disease .
|
[
{
"name": "Wilson disease",
"pos": [
88,
102
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This model will be important for studying liver pathophysiology , for developing therapy for Wilson disease and for studying the pathway of copper transport and its possible interaction with other heavy metals . .
|
[
{
"name": "Wilson disease",
"pos": [
93,
107
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Genomic organization of the adrenoleukodystrophy gene .
|
[
{
"name": "adrenoleukodystrophy",
"pos": [
28,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Adrenoleukodystrophy ( ALD ) , the most frequent peroxisomal disorder , is a severe neurodegenerative disease associated with an impairment of very long chain fatty acids beta - oxidation .
|
[
{
"name": "Adrenoleukodystrophy",
"pos": [
0,
20
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
23,
26
],
"type": "Disease"
},
{
"name": "peroxisomal disorder",
"pos": [
49,
69
],
"type": "Disease"
},
{
"name": "neurodegenerative disease",
"pos": [
84,
109
],
"type": "Disease"
},
{
"name": "impairment of very long chain fatty acids beta - oxidation",
"pos": [
129,
187
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have recently identified by positional cloning the gene responsible for ALD , located in Xq28 .
|
[
{
"name": "ALD",
"pos": [
75,
78
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It encodes a new member of the " ABC " superfamily of membrane - associated transporters that shows , in particular , significant homology to the 70 - kDa peroxisomal membrane protein ( PMP70 ) .
|
[] |
ncbi
|
[
"Disease"
] |
We report here a detailed characterization of the ALD gene structure .
|
[
{
"name": "ALD",
"pos": [
50,
53
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It extends over 21 kb and consists of 10 exons .
|
[] |
ncbi
|
[
"Disease"
] |
To facilitate the detection of mutations in ALD patients , we have determined the intronic sequences flanking the exons as well as the sequence of the 3 untranslated region and of the immediate 5 promoter region .
|
[
{
"name": "ALD",
"pos": [
44,
47
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Sequences present in distal exons cross - hybridize strongly to additional sequences in the human genome .
|
[] |
ncbi
|
[
"Disease"
] |
The ALD gene has been positioned on a pulsed - field map between DXS15 and the L1CAM gene , about 650 kb upstream from the color pigment genes .
|
[
{
"name": "ALD",
"pos": [
4,
7
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy ( the adult onset form of ALD ) thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD . .
|
[
{
"name": "adrenomyeloneuropathy",
"pos": [
76,
97
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
124,
127
],
"type": "Disease"
},
{
"name": "contiguous gene syndrome",
"pos": [
156,
180
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
214,
217
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The murine homologues of the Huntington disease gene ( Hdh ) and the alpha - adducin gene ( Add1 ) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16 . 3 .
|
[
{
"name": "Huntington disease",
"pos": [
29,
47
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Huntington disease ( HD ) is a severe autosomal dominant neurodegenerative disorder associated with a novel gene ( IT15 ) .
|
[
{
"name": "Huntington disease",
"pos": [
0,
18
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
21,
23
],
"type": "Disease"
},
{
"name": "autosomal dominant neurodegenerative disorder",
"pos": [
38,
83
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Recently , we reported the cloning of Hdh , the murine homologue of IT15 .
|
[] |
ncbi
|
[
"Disease"
] |
Here , using an interspecific backcross , we have mapped both Hdh and the mouse homologue of human alpha - adducin ( Add1 ) , a membrane - associated cytoskeletal protein gene .
|
[] |
ncbi
|
[
"Disease"
] |
Both of these genes map in the same position on mouse chromosome 5 in a region associated with ancestral chromosomal rearrangements and show no recombination with D5H4S43 , D5H4S115 , and D5H4S62 , the murine homologues of D4S43 , D4S115 , and D4S62 , respectively .
|
[] |
ncbi
|
[
"Disease"
] |
Further mapping studies of humans , mice , and other mammalian species should reveal the nature of the rearrangements affecting this chromosomal segment during mammalian evolution . .
|
[] |
ncbi
|
[
"Disease"
] |
Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol .
|
[
{
"name": "cholesteryl ester transfer protein deficiency",
"pos": [
8,
53
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Genetic determinants of HDL cholesterol ( HDL - C ) levels in the general population are poorly understood .
|
[] |
ncbi
|
[
"Disease"
] |
We previously described plasma cholesteryl ester transfer protein ( CETP ) deficiency due to an intron 14 G ( + 1 ) - to - A mutation ( Int14 A ) in several families with very high HDL - C levels in Japan .
|
[
{
"name": "cholesteryl ester transfer protein ( CETP ) deficiency",
"pos": [
31,
85
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Subjects with HDL - C > or = 100 mg / dl ( n = 130 ) were screened by PCR single strand conformational polymorphism analysis of the CETP gene .
|
[] |
ncbi
|
[
"Disease"
] |
Two other mutations were identified by DNA sequencing or primer - mediated restriction map modification of PCR products a novel intron 14 splice donor site mutation caused by a T insertion at position + 3 from the exon14 / intron14 boundary ( Int14 T ) and a missense mutation ( Asp442 to Gly ) within exon 15 ( D442G ) .
|
[] |
ncbi
|
[
"Disease"
] |
The Int14 T mutation was only found in one family .
|
[] |
ncbi
|
[
"Disease"
] |
However , the D442G and Int14 A mutations were highly prevalent in subjects with HDL - C > or = 60 mg / dl , with combined allele frequencies of 9 % , 12 % , 21 % and 43 % for HDL - C 60 - 79 , 80 - 99 , 100 - 119 , and > or = 120 mg / dl , respectively .
|
[] |
ncbi
|
[
"Disease"
] |
Furthermore , prevalences of the D442G and Int14 A mutations were extremely high in a general sample of Japanese men ( n = 236 ) , with heterozygote frequencies of 7 % and 2 % , respectively .
|
[] |
ncbi
|
[
"Disease"
] |
These two mutations accounted for about 10 % of the total variance of HDL - C in this population .
|
[] |
ncbi
|
[
"Disease"
] |
The phenotype in a genetic compound heterozygote ( Int14 T and Int14 A ) was similar to that of Int14 A homozygotes ( no detectable CETP and markedly increased HDL - C ) , indicating that the Int14 T produces a null allele .
|
[] |
ncbi
|
[
"Disease"
] |
In four D442G homozygotes , mean HDL - C levels ( 86 + / - 26 mg / dl ) were lower than in Int14 A homozygotes ( 158 + / - 35 mg / dl ) , reflecting residual CETP activity in plasma .
|
[] |
ncbi
|
[
"Disease"
] |
In 47 D442G heterozygotes , mean HDL - C levels were 91 + / - 23 mg / dl , similar to the level in D442G homozygotes , and significantly greater than mean HDL - C levels in Int14 A heterozygotes ( 69 + / - 15 mg / dl ) .
|
[] |
ncbi
|
[
"Disease"
] |
Thus , the D442G mutation acts differently to the null mutations with weaker effects on HDL in the homozygous state and stronger effects in the heterozygotes , suggesting dominant expression of a partially defective allele .
|
[] |
ncbi
|
[
"Disease"
] |
CETP deficiency , reflecting two prevalent mutations ( D442G and Int14 A ) , is the first example of a genetic deficiency state which is sufficiently common to explain a significant fraction of the variation in HDL - C in the general population . .
|
[
{
"name": "CETP deficiency",
"pos": [
0,
15
],
"type": "Disease"
},
{
"name": "genetic deficiency",
"pos": [
103,
121
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Treatment of cerebrotendinous xanthomatosis : effects of chenodeoxycholic acid , pravastatin , and combined use .
|
[
{
"name": "cerebrotendinous xanthomatosis",
"pos": [
13,
43
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Treatments by oral administration of chenodeoxycholic acid ( CDCA ) alone , 3 - hydroxy - 3 - methylglutaryl ( HMG ) CoA reductase inhibitor ( pravastatin ) alone , and combination of the two drugs were attempted for 7 patients with cerebrotendinous xanthomatosis ( CTX ) .
|
[
{
"name": "cerebrotendinous xanthomatosis",
"pos": [
233,
263
],
"type": "Disease"
},
{
"name": "CTX",
"pos": [
266,
269
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
CDCA treatment at a dose of 300 mg / day reduced serum cholestanol ( 67 . 3 % reduction ) , lathosterol ( 50 . 8 % ) , campesterol ( 61 . 7 % ) and sitosterol ( 12 . 7 % ) .
|
[] |
ncbi
|
[
"Disease"
] |
However , the sera of the patients changed to be " atherogenic " ; total cholesterol , triglyceride and low - density lipoprotein ( LDL ) - cholesterol were increased , while high - density lipoprotein ( HDL ) - cholesterol was decreased .
|
[] |
ncbi
|
[
"Disease"
] |
Contrarily , pravastatin at a dose of 10 mg / day improved the sera of the patients to be markedly " anti - atherogenic " , but the reductions of cholestanol ( 30 . 4 % ) , lathosterol ( 44 . 0 % ) , campesterol ( 22 . 9 % ) and sitosterol ( 9 . 6 % ) were inadequate .
|
[] |
ncbi
|
[
"Disease"
] |
Combined treatment with CDCA and pravastatin showed good overlapping of the effects of each drug alone .
|
[] |
ncbi
|
[
"Disease"
] |
The sera of the patients were apparently more " anti - atherogenic " than those after CDCA treatment .
|
[] |
ncbi
|
[
"Disease"
] |
Serum cholestanol concentration was still 2 .
|
[] |
ncbi
|
[
"Disease"
] |
7 times higher than in controls , but the serum lathosterol level was within the normal range , indicating that the enhancement of overall cholesterol synthesis in the patients was sufficiently suppressed .
|
[] |
ncbi
|
[
"Disease"
] |
Plant sterol levels were also within the normal range .
|
[] |
ncbi
|
[
"Disease"
] |
The combination of CDCA and pravastatin was a good treatment for CTX , based on the improvement of serum lipoprotein metabolism , the suppression of cholesterol synthesis , and reductions of cholestanol and plant sterol levels .
|
[
{
"name": "CTX",
"pos": [
65,
68
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In all of 7 patients , the progression of disease was arrested , but dramatic effects on clinical manifestations , xanthoma , and electrophysiological findings could not be found after the treatment of these drugs
|
[
{
"name": "xanthoma",
"pos": [
115,
123
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients .
|
[
{
"name": "CHM",
"pos": [
25,
28
],
"type": "Disease"
},
{
"name": "choroideremia",
"pos": [
56,
69
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The recent isolation of the complete open reading frame of the choroideremia ( CHM ) gene and the characterization of the exon - intron boundaries has paved the way to mutation detection in patients with classical choroideremia .
|
[
{
"name": "choroideremia",
"pos": [
63,
76
],
"type": "Disease"
},
{
"name": "CHM",
"pos": [
79,
82
],
"type": "Disease"
},
{
"name": "choroideremia",
"pos": [
214,
227
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have performed mutation screening in patients from 15 Danish and Swedish families by using Southern blot hybridization and the polymerase chain reaction single - strand conformation polymorphism ( PCR - SSCP ) technique .
|
[] |
ncbi
|
[
"Disease"
] |
Causative mutations in the CHM gene were detected in at least 12 families , indicating that a substantial part of the mutations can be identified by this approach .
|
[
{
"name": "CHM",
"pos": [
27,
30
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In four of these families deletions of different sizes were found .
|
[] |
ncbi
|
[
"Disease"
] |
Thus , in one patient , the deletion resulted in the absence of only one exon , while in another the deletion comprised the entire CHM gene .
|
[
{
"name": "CHM",
"pos": [
131,
134
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mapping of the deletion endpoints in these four patients and in another 11 male patients with sizeable deletions enabled us to construct a very detailed map of intervals 2 and 3 of Xq21 .
|
[] |
ncbi
|
[
"Disease"
] |
In the remaining 11 Danish and Swedish families at least 8 causative mutations were found by PCR - SSCP analysis and direct sequencing .
|
[] |
ncbi
|
[
"Disease"
] |
Interestingly , all CHM gene mutations detected thus far in choroideremia patients give rise to the introduction of a premature stop codon . .
|
[
{
"name": "CHM",
"pos": [
20,
23
],
"type": "Disease"
},
{
"name": "choroideremia",
"pos": [
60,
73
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Predominance of the adrenomyeloneuropathy phenotype of X - linked adrenoleukodystrophy in The Netherlands : a survey of 30 kindreds .
|
[
{
"name": "adrenomyeloneuropathy",
"pos": [
20,
41
],
"type": "Disease"
},
{
"name": "X - linked adrenoleukodystrophy",
"pos": [
55,
86
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
X - linked adrenoleukodystrophy ( X - ALD ) is an inherited disorder of peroxisomal beta - oxidation associated with accumulation of saturated very long - chain fatty acids , which results in central and peripheral demyelination and in impaired function of adrenal cortex and testes .
|
[
{
"name": "X - linked adrenoleukodystrophy",
"pos": [
0,
31
],
"type": "Disease"
},
{
"name": "X - ALD",
"pos": [
34,
41
],
"type": "Disease"
},
{
"name": "inherited disorder",
"pos": [
50,
68
],
"type": "Disease"
},
{
"name": "demyelination",
"pos": [
215,
228
],
"type": "Disease"
},
{
"name": "impaired function of adrenal cortex and testes",
"pos": [
236,
282
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The phenotypic expression is highly variable , childhood cerebral ALD ( CCALD ) and adrenomyeloneuropathy ( AMN ) being the main variants .
|
[
{
"name": "childhood cerebral ALD",
"pos": [
47,
69
],
"type": "Disease"
},
{
"name": "CCALD",
"pos": [
72,
77
],
"type": "Disease"
},
{
"name": "adrenomyeloneuropathy",
"pos": [
84,
105
],
"type": "Disease"
},
{
"name": "AMN",
"pos": [
108,
111
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We explored the 30 Dutch kindreds well known to the Dutch X - ALD / AMN Study Group and phenotyped 77 male patients 35 ( 46 % ) had AMN and 24 ( 31 % ) CCALD or adolescent cerebral ALD ( AdolCALD ) .
|
[
{
"name": "X - ALD",
"pos": [
58,
65
],
"type": "Disease"
},
{
"name": "AMN",
"pos": [
68,
71
],
"type": "Disease"
},
{
"name": "AMN",
"pos": [
132,
135
],
"type": "Disease"
},
{
"name": "CCALD",
"pos": [
152,
157
],
"type": "Disease"
},
{
"name": "adolescent cerebral ALD",
"pos": [
161,
184
],
"type": "Disease"
},
{
"name": "AdolCALD",
"pos": [
187,
195
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These percentages differ significantly from previous reports , in which 25 to 28 % of the patients developed AMN and 53 to 57 % CCALD or AdolCALD .
|
[
{
"name": "AMN",
"pos": [
109,
112
],
"type": "Disease"
},
{
"name": "CCALD",
"pos": [
128,
133
],
"type": "Disease"
},
{
"name": "AdolCALD",
"pos": [
137,
145
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
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