sentence
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listlengths 1
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|---|---|---|---|
The substitutions found at cDNA 392 and cDNA 1024 are new findings .
|
[] |
ncbi
|
[
"Disease"
] |
The substitutions at cDNA 1376 and 1388 account for over 50 % of the 43 samples examined indicating a high prevalence of these two alleles among G6PD - deficient Chinese .
|
[
{
"name": "G6PD - deficient",
"pos": [
145,
161
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency . .
|
[
{
"name": "G6PD deficiency",
"pos": [
132,
147
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Identification of mutations in Danish choroideremia families .
|
[
{
"name": "choroideremia",
"pos": [
38,
51
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have searched for mutations in the choroideremia gene ( CHM ) in patients from 12 Danish families in which CHM is segregating .
|
[
{
"name": "choroideremia",
"pos": [
38,
51
],
"type": "Disease"
},
{
"name": "CHM",
"pos": [
59,
62
],
"type": "Disease"
},
{
"name": "CHM",
"pos": [
110,
113
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Employing polymerase chain reaction ( PCR ) , single strand conformation polymorphism ( SSCP ) analysis , and direct DNA sequencing , different mutations have been identified in 6 patients .
|
[] |
ncbi
|
[
"Disease"
] |
All the mutations will interfere with the correct translation of the mRNA predicting a truncated protein or no gene product at all . .
|
[] |
ncbi
|
[
"Disease"
] |
Structure and genomic sequence of the myotonic dystrophy ( DM kinase ) gene .
|
[
{
"name": "myotonic dystrophy",
"pos": [
38,
56
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
59,
61
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The mutation causing myotonic dystrophy ( DM ) has recently been identified as an unstable CTG trinucleotide repeat located in the 3 untranslated region of a gene encoding for a protein with putative serine - threonine protein kinase activity .
|
[
{
"name": "myotonic dystrophy",
"pos": [
21,
39
],
"type": "Disease"
},
{
"name": "DM",
"pos": [
42,
44
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In this report we present the genomic sequences of the human and murine DM kinase gene .
|
[
{
"name": "DM",
"pos": [
72,
74
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A comparison of these sequences with each other and with known cDNA sequences from both species , led us to predict a translation initiation codon , as well as determine the organization of the DM kinase gene .
|
[
{
"name": "DM",
"pos": [
194,
196
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Several polymorphisms within the human DM kinase gene have been identified , and PCR assays to detect two of these are described .
|
[
{
"name": "DM",
"pos": [
39,
41
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The complete sequence and characterization of the structure of the DM kinase gene , as well as the identification of novel polymorphisms within the gene , represent an important step in a further understanding of the genetics of myotonic dystrophy and the molecular biology of the gene . .
|
[
{
"name": "DM",
"pos": [
67,
69
],
"type": "Disease"
},
{
"name": "myotonic dystrophy",
"pos": [
229,
247
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation .
|
[
{
"name": "hemophilia A",
"pos": [
36,
48
],
"type": "Disease"
},
{
"name": "von Willebrand",
"pos": [
58,
72
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The differential diagnosis of the genetic bleeding disorders , hemophilia A and von Willebrand disease , is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor ( vWF ) .
|
[
{
"name": "genetic bleeding disorders",
"pos": [
34,
60
],
"type": "Disease"
},
{
"name": "hemophilia A",
"pos": [
63,
75
],
"type": "Disease"
},
{
"name": "von Willebrand disease",
"pos": [
80,
102
],
"type": "Disease"
},
{
"name": "von Willebrand",
"pos": [
199,
213
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding .
|
[
{
"name": "hemophilia A",
"pos": [
53,
65
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The proband was a female patient with low levels of factor VIII activity .
|
[] |
ncbi
|
[
"Disease"
] |
Polymerase chain reaction ( PCR ) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF .
|
[] |
ncbi
|
[
"Disease"
] |
The patient was found to be homozygous for a single point mutation causing a Thr - - > Met substitution at amino acid position 28 in the mature vWF subunit .
|
[] |
ncbi
|
[
"Disease"
] |
The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected .
|
[] |
ncbi
|
[
"Disease"
] |
Recombinant vWF containing the observed amino acid substitution was expressed in COS - 1 cells .
|
[] |
ncbi
|
[
"Disease"
] |
The mutant vWF was processed and secreted normally , and was functionally equivalent to wild - type vWF in its ability to bind to platelets .
|
[] |
ncbi
|
[
"Disease"
] |
However , the mutant failed to bind factor VIII , demonstrating that the mutation was functionally related to the observed hemophilia phenotype .
|
[
{
"name": "hemophilia",
"pos": [
123,
133
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders , we call " autosomal hemophilia .
|
[
{
"name": "hemophilia",
"pos": [
145,
155
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
" We conclude that vWF mutation may be an under recognized cause of hemophilia , especially in cases where the inheritance pattern is not consistent with X - linked transmission .
|
[
{
"name": "hemophilia",
"pos": [
68,
78
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Somatic von Hippel - Lindau mutation in clear cell papillary cystadenoma of the epididymis .
|
[
{
"name": "von Hippel - Lindau",
"pos": [
8,
27
],
"type": "Disease"
},
{
"name": "papillary cystadenoma of the epididymis",
"pos": [
51,
90
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Papillary cystadenoma of the epididymis is an uncommon benign lesion that may occur sporadically or as a manifestation of von Hippel - Lindau ( VHL ) disease .
|
[
{
"name": "Papillary cystadenoma of the epididymis",
"pos": [
0,
39
],
"type": "Disease"
},
{
"name": "von Hippel - Lindau ( VHL ) disease",
"pos": [
122,
157
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Neither immunohistochemical studies nor molecular genetic analyses of the VHL gene have been reported previously for this lesion .
|
[
{
"name": "VHL",
"pos": [
74,
77
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The authors describe two cases of clear cell papillary cystadenoma of the epididymis , both of which were initially confused with metastatic renal cell carcinoma .
|
[
{
"name": "papillary cystadenoma of the epididymis",
"pos": [
45,
84
],
"type": "Disease"
},
{
"name": "metastatic renal cell carcinoma",
"pos": [
130,
161
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Both lesions showed positive immunohistochemical staining for low and intermediate molecular weight keratins ( Cam 5 . 2 and AE1 / AE3 ) , EMA , vimentin , alpha 1 - antitrypsin , and alpha 1 - antichymotrypsin .
|
[] |
ncbi
|
[
"Disease"
] |
Each was negative for CEA .
|
[] |
ncbi
|
[
"Disease"
] |
Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically , and because both occur as components of the von Hippel - Lindau disease complex , the authors analyzed both cases for the presence of mutations in the VHL gene .
|
[
{
"name": "papillary cystadenoma",
"pos": [
19,
40
],
"type": "Disease"
},
{
"name": "renal cell carcinoma",
"pos": [
55,
75
],
"type": "Disease"
},
{
"name": "von Hippel - Lindau disease",
"pos": [
137,
164
],
"type": "Disease"
},
{
"name": "VHL",
"pos": [
244,
247
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A somatic VHL gene mutation was detected in one of the two tumors by polymerase chain reaction followed by single - strand conformation polymorphism analysis .
|
[
{
"name": "VHL",
"pos": [
10,
13
],
"type": "Disease"
},
{
"name": "tumors",
"pos": [
59,
65
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Direct sequencing revealed a cytosine to thymine transition at nucleotide 694 , resulting in the replacement of an arginine with a stop codon after the sixth amino acid of exon 3 .
|
[] |
ncbi
|
[
"Disease"
] |
As the VHL gene is believed to function as a tumor suppressor gene , VHL gene mutations may play a role in the initiation of tumorigenesis in sporadic cystadenomas of the epididymis .
|
[
{
"name": "VHL",
"pos": [
7,
10
],
"type": "Disease"
},
{
"name": "tumor",
"pos": [
45,
50
],
"type": "Disease"
},
{
"name": "VHL",
"pos": [
69,
72
],
"type": "Disease"
},
{
"name": "cystadenomas of the epididymis",
"pos": [
151,
181
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Identification of WASP mutations in patients with Wiskott - Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus .
|
[
{
"name": "Wiskott - Aldrich syndrome",
"pos": [
50,
76
],
"type": "Disease"
},
{
"name": "isolated thrombocytopenia",
"pos": [
81,
106
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
144,
147
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutation in the gene encoding the recently isolated WASP protein has now been identified as the genetic defect responsible for the X - linked Wiskott - Aldrich syndrome ( WAS ) , a primary immunodeficiency disease associated with extensive phenotypic variability .
|
[
{
"name": "genetic defect",
"pos": [
96,
110
],
"type": "Disease"
},
{
"name": "X - linked Wiskott - Aldrich syndrome",
"pos": [
131,
168
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
171,
174
],
"type": "Disease"
},
{
"name": "immunodeficiency disease",
"pos": [
189,
213
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To elucidate the range of WASP mutations responsible for WAS , we used PCR - SSCP analysis to screen for WASP gene mutation in 19 unrelated boys with the diagnosis of classical or attenuated WAS or isolated thrombocytopenia .
|
[
{
"name": "WAS",
"pos": [
26,
29
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
57,
60
],
"type": "Disease"
},
{
"name": "isolated thrombocytopenia",
"pos": [
198,
223
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
All 19 patients had WASP mutations , each of which localized to the initial three or terminal three exons of the gene , and the majority of which were unique in each case .
|
[] |
ncbi
|
[
"Disease"
] |
However , a missense mutation which results in substitution of the arginine at WAS codon 86 was identified in three boys with severe WAS as well as in one boy presenting with thrombocytopenia alone .
|
[
{
"name": "WAS",
"pos": [
79,
82
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
133,
136
],
"type": "Disease"
},
{
"name": "thrombocytopenia",
"pos": [
175,
191
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
While the three mutations found in the isolated thrombocytopenia patients leave the reading frame intact , about one - half of the gene alterations detected in both severe and attenuated WAS patients result in frameshifted transcript and premature translation termination .
|
[
{
"name": "isolated thrombocytopenia",
"pos": [
39,
64
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
187,
190
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These findings therefore confirm the association of WAS with WASP mutation and identify WASP mutation as a cause for isolated congenital thrombocytopenia in males .
|
[
{
"name": "WAS",
"pos": [
52,
55
],
"type": "Disease"
},
{
"name": "congenital thrombocytopenia",
"pos": [
126,
153
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
While the WASP gene defects responsible for isolated thrombocytopenia and other mild presentations of WAS do not appear distinct from those resulting in severe WAS , these data indicate that analysis of WASP gene mutation provides a valuable tool for distinguishing the spectrum of WAS patients and the subset of males with isolated thrombocytopenia who represent mild cases of WAS . .
|
[
{
"name": "isolated thrombocytopenia",
"pos": [
44,
69
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
102,
105
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
160,
163
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
203,
206
],
"type": "Disease"
},
{
"name": "isolated thrombocytopenia",
"pos": [
324,
349
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
378,
381
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
WASP gene mutations in Wiskott - Aldrich syndrome and X - linked thrombocytopenia .
|
[
{
"name": "Wiskott - Aldrich syndrome",
"pos": [
23,
49
],
"type": "Disease"
},
{
"name": "X - linked thrombocytopenia",
"pos": [
54,
81
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The WASP gene has been recently cloned from Xp11 .
|
[] |
ncbi
|
[
"Disease"
] |
23 and shown to be mutated in three patients with the Wiskott - Aldrich syndrome ( WAS ) .
|
[
{
"name": "Wiskott - Aldrich syndrome",
"pos": [
54,
80
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
83,
86
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families .
|
[] |
ncbi
|
[
"Disease"
] |
These missense , nonsense and frameshift mutations involve eight of the 12 exons of the gene .
|
[] |
ncbi
|
[
"Disease"
] |
Two mutations creating premature termination codons were associated with lack of detectable mRNA on Northern blots .
|
[] |
ncbi
|
[
"Disease"
] |
Four amino acid substitutions , Leu27Phe , Thr48Ile , Val75Met and Arg477Lys , were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X - linked thrombocytopenia as well as in WAS .
|
[
{
"name": "congenital thrombocytopenia",
"pos": [
107,
134
],
"type": "Disease"
},
{
"name": "X - linked thrombocytopenia",
"pos": [
234,
261
],
"type": "Disease"
},
{
"name": "WAS",
"pos": [
276,
279
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A T - cell line from a WAS patient contained two independent DNA alterations , a constitutional frameshift mutation , also present in peripheral blood leukocytes from the patient , and compensatory splice site mutation unique to the cell line .
|
[
{
"name": "WAS",
"pos": [
23,
26
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The distribution of eight missense mutations provides valuable information on amino acids which are essential for normal protein function , and suggests that sites in the first two exons are hot - spots for mutation .
|
[] |
ncbi
|
[
"Disease"
] |
Evidence for inter - generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado - Joseph disease .
|
[
{
"name": "Machado - Joseph disease",
"pos": [
175,
199
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The size of the ( CAG ) n repeat array in the 3 ' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado - Joseph disease ( MJD ) .
|
[
{
"name": "Machado - Joseph disease",
"pos": [
234,
258
],
"type": "Disease"
},
{
"name": "MJD",
"pos": [
261,
264
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Our data provide five novel observations .
|
[] |
ncbi
|
[
"Disease"
] |
First , MJD is associated with expansion fo the array from the normal range of 14 - 37 repeats to 68 - 84 repeats in most Japanese and Caucasian subjects , but no subjects were observed with expansions intermediate in size between those of the normal and MJD affected groups .
|
[
{
"name": "MJD",
"pos": [
8,
11
],
"type": "Disease"
},
{
"name": "MJD",
"pos": [
255,
258
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Second , the expanded allele associated with MJD displays inter - generational instability , particularly in male meioses , and this instability was associated with the clinical phenomenon of anticipation .
|
[
{
"name": "MJD",
"pos": [
45,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Third , the size of the expanded allele is not only inversely correlated with the age - of - onset of MJD ( r = - 0 . 738 , p < 0 . 001 ) , but is also correlated with the frequency of other clinical features [ e . g . pseudoexophthalmos and pyramidal signs were more frequent in subjects with large repeats ( p < 0 . 001 and p < 0 . 05 respectively ) ] .
|
[
{
"name": "MJD",
"pos": [
102,
105
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Fourth , the disease phenotype is significantly more severe and had an early age of onset ( 16 years ) in a subject homozygous for the expanded allele , which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect ( putatively excluded in HD ) or by a gain of function effect as proposed for HD .
|
[
{
"name": "Huntington disease",
"pos": [
174,
192
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
333,
335
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
386,
388
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Finally , Japanese and Caucasian subjects affected with MJD share haplotypes at several markers surrounding the MJD1 gene , which are uncommon in the normal Japanese and Caucasian population , and which suggests the existence either of common founders in these populations or of chromosomes susceptible to pathologic expansion of the CAG repeat in the MJD1 gene .
|
[
{
"name": "MJD",
"pos": [
56,
59
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Evidence for inter - generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado - Joseph disease .
|
[
{
"name": "Machado - Joseph disease",
"pos": [
175,
199
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The size of the ( CAG ) n repeat array in the 3 ' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado - Joseph disease ( MJD ) .
|
[
{
"name": "Machado - Joseph disease",
"pos": [
234,
258
],
"type": "Disease"
},
{
"name": "MJD",
"pos": [
261,
264
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Our data provide five novel observations .
|
[] |
ncbi
|
[
"Disease"
] |
First , MJD is associated with expansion fo the array from the normal range of 14 - 37 repeats to 68 - 84 repeats in most Japanese and Caucasian subjects , but no subjects were observed with expansions intermediate in size between those of the normal and MJD affected groups .
|
[
{
"name": "MJD",
"pos": [
8,
11
],
"type": "Disease"
},
{
"name": "MJD",
"pos": [
255,
258
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Second , the expanded allele associated with MJD displays inter - generational instability , particularly in male meioses , and this instability was associated with the clinical phenomenon of anticipation .
|
[
{
"name": "MJD",
"pos": [
45,
48
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Third , the size of the expanded allele is not only inversely correlated with the age - of - onset of MJD ( r = - 0 . 738 , p < 0 . 001 ) , but is also correlated with the frequency of other clinical features [ e . g . pseudoexophthalmos and pyramidal signs were more frequent in subjects with large repeats ( p < 0 . 001 and p < 0 . 05 respectively ) ] .
|
[
{
"name": "MJD",
"pos": [
102,
105
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Fourth , the disease phenotype is significantly more severe and had an early age of onset ( 16 years ) in a subject homozygous for the expanded allele , which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect ( putatively excluded in HD ) or by a gain of function effect as proposed for HD .
|
[
{
"name": "Huntington disease",
"pos": [
174,
192
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
333,
335
],
"type": "Disease"
},
{
"name": "HD",
"pos": [
386,
388
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Finally , Japanese and Caucasian subjects affected with MJD share haplotypes at several markers surrounding the MJD1 gene , which are uncommon in the normal Japanese and Caucasian population , and which suggests the existence either of common founders in these populations or of chromosomes susceptible to pathologic expansion of the CAG repeat in the MJD1 gene .
|
[
{
"name": "MJD",
"pos": [
56,
59
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A 4 - megabase YAC contig that spans the Langer - Giedion syndrome region on human chromosome 8q24 . 1 : use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes ( TRPS1 and EXT1 ) .
|
[
{
"name": "Langer - Giedion syndrome",
"pos": [
41,
66
],
"type": "Disease"
},
{
"name": "trichorhinophalangeal syndrome",
"pos": [
141,
171
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have constructed a physical map covering over 4 Mb of human chromosome 8q24 .
|
[] |
ncbi
|
[
"Disease"
] |
1 and used this map to refine the locations of the genes responsible for Langer - Giedion syndrome .
|
[
{
"name": "Langer - Giedion syndrome",
"pos": [
73,
98
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The map is composed of overlapping YAC clones that were identified and ordered in relation to sequence tagged sites mapped to the Langer - Giedion chromosomal region on somatic cell hybrids .
|
[] |
ncbi
|
[
"Disease"
] |
The minimal region of overlap of Langer - Giedion syndrome deletions , previously identified by analysis of 15 patients , was placed on the map by analysis of 2 patients whose deletions define the endpoints .
|
[
{
"name": "Langer - Giedion syndrome",
"pos": [
33,
58
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The chromosome 8 breakpoint of a balanced t ( 8 ; 9 ) ( q24 . 11 ; q33 . 3 ) translocation from a patient with trichorhinophalangeal syndrome ( TRPS I ) was found to be located just within the proximal end of the minimal deletion region .
|
[
{
"name": "trichorhinophalangeal syndrome",
"pos": [
111,
141
],
"type": "Disease"
},
{
"name": "TRPS",
"pos": [
144,
148
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A deletion of 8q24 .
|
[] |
ncbi
|
[
"Disease"
] |
11 - q24 .
|
[] |
ncbi
|
[
"Disease"
] |
3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region , indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer - Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes
|
[
{
"name": "LGS",
"pos": [
82,
85
],
"type": "Disease"
},
{
"name": "Langer - Giedion syndrome",
"pos": [
197,
222
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
BRCA1 mutations in a population - based sample of young women with breast cancer .
|
[
{
"name": "breast cancer",
"pos": [
67,
80
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
BACKGROUND .
|
[] |
ncbi
|
[
"Disease"
] |
Inherited mutations in the BRCA1 gene are associated with a high risk of breast and ovarian cancer in some families .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
73,
98
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
However , little is known about the contribution of BRCA1 mutations to breast cancer in the general population .
|
[
{
"name": "breast cancer",
"pos": [
71,
84
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We analyzed DNA samples from women enrolled in a population - based study of early - onset breast cancer to assess the spectrum and frequency of germ - line BRCA1 mutations in young women with breast cancer .
|
[
{
"name": "breast cancer",
"pos": [
91,
104
],
"type": "Disease"
},
{
"name": "breast cancer",
"pos": [
193,
206
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
METHODS .
|
[] |
ncbi
|
[
"Disease"
] |
We studied 80 women in whom breast cancer was diagnosed before the age of 35 , and who were not selected on the basis of family history .
|
[
{
"name": "breast cancer",
"pos": [
28,
41
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Genomic DNA was studied for BRCA1 mutations by analysis involving single - strand conformation polymorphisms and with allele - specific assays .
|
[] |
ncbi
|
[
"Disease"
] |
Alterations were defined by DNA sequencing .
|
[] |
ncbi
|
[
"Disease"
] |
RESULTS .
|
[] |
ncbi
|
[
"Disease"
] |
Germ - line BRCA1 mutations were identified in 6 of the 80 women .
|
[] |
ncbi
|
[
"Disease"
] |
Four additional rare sequence variants of unknown functional importance were also identified .
|
[] |
ncbi
|
[
"Disease"
] |
Two of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of breast or ovarian cancer .
|
[
{
"name": "breast or ovarian cancer",
"pos": [
125,
149
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects .
|
[] |
ncbi
|
[
"Disease"
] |
CONCLUSIONS .
|
[] |
ncbi
|
[
"Disease"
] |
Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with breast cancer .
|
[
{
"name": "breast cancer",
"pos": [
100,
113
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer .
|
[
{
"name": "breast or ovarian cancer",
"pos": [
83,
107
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
These results represent a minimal estimate of the frequency of BRCA1 mutations in this population .
|
[] |
ncbi
|
[
"Disease"
] |
Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken . .
|
[] |
ncbi
|
[
"Disease"
] |
Novel inherited mutations and variable expressivity of BRCA1 alleles , including the founder mutation 185delAG in Ashkenazi Jewish families .
|
[] |
ncbi
|
[
"Disease"
] |
Thirty - seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1 .
|
[
{
"name": "breast cancer",
"pos": [
51,
64
],
"type": "Disease"
},
{
"name": "breast and ovarian cancer",
"pos": [
68,
93
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Twelve different germ - line mutations , four novel and eight previously observed , were detected in 16 families .
|
[] |
ncbi
|
[
"Disease"
] |
Five families of Ashkenazi Jewish descent carried the 185delAG mutation and shared the same haplotype at eight polymorphic markers spanning approximately 850 kb at BRCA1 .
|
[] |
ncbi
|
[
"Disease"
] |
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