bentrevett/instruct_uie_ner · Datasets at Fast360

sentence stringlengths 1 68k	entities listlengths 0 637	dataset stringclasses 26 values	types listlengths 1 21
A 27 - residue fragment of APC containing a 15 - amino acid repeat was sufficient for the interaction with the catenins .	[]	ncbi	[ "Disease" ]
These results suggest an important link between tumor initiation and cell adhesion . .	[ { "name": "tumor", "pos": [ 48, 53 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Difference in methylation patterns within the D15S9 region of chromosome 15q11 - 13 in first cousins with Angelman syndrome and Prader - Willi syndrome .	[ { "name": "Angelman syndrome", "pos": [ 106, 123 ], "type": "Disease" }, { "name": "Prader - Willi syndrome", "pos": [ 128, 151 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Abnormalities of chromosome region 15q11 - 13 are associated with Angelman syndrome ( AS ) and Prader - Willi syndrome ( PWS ) .	[ { "name": "Angelman syndrome", "pos": [ 66, 83 ], "type": "Disease" }, { "name": "AS", "pos": [ 86, 88 ], "type": "Disease" }, { "name": "Prader - Willi syndrome", "pos": [ 95, 118 ], "type": "Disease" }, { "name": "PWS", "pos": [ 121, 124 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Differences between the methylation patterns of the region of chromosome 15q11 - 13 which hybridizes to the highly conserved DNA , DN34 , in normal individuals and in patients with AS and PWS have been described .	[ { "name": "AS", "pos": [ 181, 183 ], "type": "Disease" }, { "name": "PWS", "pos": [ 188, 191 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11 - q13 .	[ { "name": "AS", "pos": [ 61, 63 ], "type": "Disease" }, { "name": "PWS", "pos": [ 68, 71 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting , whereby genetic information is expressed differently dependent on the parent of origin . .	[]	ncbi	[ "Disease" ]
Haplotype studies in Wilson disease .	[ { "name": "Wilson disease", "pos": [ 21, 35 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
In 51 families with Wilson disease , we have studied DNA haplotypes of dinucleotide repeat polymorphisms ( CA repeats ) in the 13q14 .	[ { "name": "Wilson disease", "pos": [ 20, 34 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
3 region , to examine these markers for association with the Wilson disease gene ( WND ) .	[ { "name": "Wilson disease", "pos": [ 61, 75 ], "type": "Disease" }, { "name": "WND", "pos": [ 83, 86 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
In addition to a marker ( D13S133 ) described elsewhere , we have developed three new highly polymorphic markers ( D13S314 , D13S315 , and D13S316 ) close to the WND locus .	[ { "name": "WND", "pos": [ 162, 165 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We have examined the distribution of marker alleles at the loci studied and have found that D13S314 , D13S133 , and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation .	[ { "name": "WND", "pos": [ 185, 188 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families .	[ { "name": "WND", "pos": [ 119, 122 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease .	[ { "name": "Wilson disease", "pos": [ 107, 121 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Genetic analysis of the BRCA1 region in a large breast / ovarian family : refinement of the minimal region containing BRCA1 .	[]	ncbi	[ "Disease" ]
We have analyzed a single multi - affected breast / ovarian cancer pedigree ( BOV3 ) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene .	[ { "name": "breast / ovarian cancer", "pos": [ 43, 66 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Analysis of 17q haplotypes shows a recombination event in a bilateral breast cancer case which suggests that the BRCA1 gene lies distal to D17S857 ; D17S857 is thus the new proximal boundary for the region containing BRCA1 .	[ { "name": "breast cancer", "pos": [ 70, 83 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Combining this information with previously published mapping information suggests that BRCA1 is contained in a region estimated at 1 - 1 .	[]	ncbi	[ "Disease" ]
5 Mb in length .	[]	ncbi	[ "Disease" ]
All seven breast tumour / blood pairs examined from this family show loss of heterozygosity in the tumours .	[ { "name": "breast tumour", "pos": [ 10, 23 ], "type": "Disease" }, { "name": "tumours", "pos": [ 99, 106 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The allel retained in each tumour was from the disease - bearing chromosome implicating BRCA1 as a tumour suppressor gene .	[ { "name": "tumour", "pos": [ 27, 33 ], "type": "Disease" }, { "name": "tumour", "pos": [ 99, 105 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We have sequenced the 17 beta - oestradiol dehydrogenase genes ( EDH17B1 and EDH17B2 ) which have been suggested as candidate genes for BRCA1 in four members of this family .	[]	ncbi	[ "Disease" ]
No germline mutations were detected .	[]	ncbi	[ "Disease" ]
Myotonic dystrophy kinase is a component of neuromuscular junctions .	[ { "name": "Myotonic dystrophy", "pos": [ 0, 18 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The clinical manifestation of myotonic dystrophy ( DM ) is correlated to the extent of expansion of an unstable [ CTG ] n DNA motif .	[ { "name": "myotonic dystrophy", "pos": [ 30, 48 ], "type": "Disease" }, { "name": "DM", "pos": [ 51, 53 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Recent studies have demonstrated that this trinucleotide motif forms part of the last , 3 untranslated exon of a gene which potentially encodes multiple protein isoforms of a serine / threonine protein kinase ( myotonic dystrophy protein kinase , DM - PK ) .	[ { "name": "myotonic dystrophy", "pos": [ 211, 229 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We report here on the development of antisera against synthetic DM - PK peptide antigens and their use in biochemical and histochemical studies .	[]	ncbi	[ "Disease" ]
Immunoreactive DM - kinase protein of 53 kD is present at low levels in skeletal and cardiac muscle extracts of DM patients and normal controls .	[ { "name": "DM", "pos": [ 15, 17 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Immunohistochemical staining revealed that DM - PK is localised prominently at sites of neuromuscular and myotendinous junctions ( NMJs and MTJs ) of human and rodent skeletal muscles .	[]	ncbi	[ "Disease" ]
Furthermore , very low levels of immunoreactive DM - PK protein are present in the sarcoplasm of predominantly type I fibres in various muscles .	[]	ncbi	[ "Disease" ]
Strikingly , presence of the protein can also be demonstrated for NMJs of muscular tissues of adult and congenital cases of DM , with no gross changes in structural organisation .	[ { "name": "DM", "pos": [ 124, 126 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Our findings provide a basis for further characterisation of the role of the kinase in protein assembly processes or signal mediation at synaptic sites and ultimately for the understanding of the complex pathophysiology of DM . .	[ { "name": "DM", "pos": [ 223, 225 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Markedly accelerated catabolism of apolipoprotein A - II ( ApoA - II ) and high density lipoproteins containing ApoA - II in classic lecithin : cholesterol acyltransferase deficiency and fish - eye disease .	[ { "name": "cholesterol acyltransferase deficiency", "pos": [ 144, 182 ], "type": "Disease" }, { "name": "fish - eye disease", "pos": [ 187, 205 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Classic ( complete ) lecithin cholesterol acyltransferase ( LCAT ) deficiency and Fish - eye disease ( partial LCAT deficiency ) are genetic syndromes associated with markedly decreased plasma levels of high density lipoprotein ( HDL ) cholesterol but not with an increased risk of atherosclerotic cardiovascular disease .	[ { "name": "Classic ( complete ) lecithin cholesterol acyltransferase ( LCAT ) deficiency", "pos": [ 0, 77 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 82, 100 ], "type": "Disease" }, { "name": "partial LCAT deficiency", "pos": [ 103, 126 ], "type": "Disease" }, { "name": "atherosclerotic cardiovascular disease", "pos": [ 282, 320 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We investigated the metabolism of the HDL apolipoproteins ( apo ) apoA - I and apoA - II in a total of five patients with LCAT deficiency , one with classic LCAT deficiency and four with Fish - eye disease .	[ { "name": "LCAT deficiency", "pos": [ 122, 137 ], "type": "Disease" }, { "name": "classic LCAT deficiency", "pos": [ 149, 172 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 187, 205 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Plasma levels of apoA - II were decreased to a proportionately greater extent ( 23 % of normal ) than apoA - I ( 30 % of normal ) .	[]	ncbi	[ "Disease" ]
In addition , plasma concentrations of HDL particles containing both apoA - I and apoA - II ( LpA - I A - II ) were much lower ( 18 % of normal ) than those of particles containing only apoA - I ( LpA - I ) ( 51 % of normal ) .	[]	ncbi	[ "Disease" ]
The metabolic basis for the low levels of apoA - II and LpA - I A - II was investigated in all five patients using both exogenous radiotracer and endogenous stable isotope labeling techniques .	[]	ncbi	[ "Disease" ]
The mean plasma residence time of apoA - I was decreased at 2 .	[]	ncbi	[ "Disease" ]
08 + / - 0 .	[]	ncbi	[ "Disease" ]
27 d ( controls 4 . 74 + / - 0 . 65 days ) ; however , the residence time of apoA - II was even shorter at 1 .	[]	ncbi	[ "Disease" ]
66 + / - 0 .	[]	ncbi	[ "Disease" ]
24 d ( controls 5 . 25 + / - 0 . 61 d ) .	[]	ncbi	[ "Disease" ]
In addition , the catabolism of apoA - I in LpA - I A - II was substantially faster than that of apoA - I in LpA - I .	[]	ncbi	[ "Disease" ]
In summary , genetic syndromes of either complete or partial LCAT deficiency result in low levels of HDL through preferential hypercatabolism of apoA - II and HDL particles containing apoA - II .	[ { "name": "complete or partial LCAT deficiency", "pos": [ 41, 76 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Because LpA - I has been proposed to be more protective than LpA - I A - II against atherosclerosis , this selective effect on the metabolism of LpA - I A - II may provide a potential explanation why patients with classic LCAT deficiency and Fish - eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA - I	[ { "name": "atherosclerosis", "pos": [ 84, 99 ], "type": "Disease" }, { "name": "classic LCAT deficiency", "pos": [ 214, 237 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 242, 260 ], "type": "Disease" }, { "name": "atherosclerosis", "pos": [ 301, 316 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
X linked recessive thrombocytopenia .	[ { "name": "X linked recessive thrombocytopenia", "pos": [ 0, 35 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
A Saudi Arab boy presented in early childhood with thrombocytopenia , morphologically large and normal sized platelets , increased mean platelet volume , and a hypermegakaryocytic bone marrow .	[ { "name": "thrombocytopenia", "pos": [ 51, 67 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
There was no clinical and laboratory evidence of any significant immunological abnormalities .	[ { "name": "immunological abnormalities", "pos": [ 65, 92 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder .	[ { "name": "X linked recessive thrombocytopenic disorder", "pos": [ 95, 139 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott - Aldrich syndrome ( WAS ) .	[ { "name": "Wiskott - Aldrich syndrome", "pos": [ 195, 221 ], "type": "Disease" }, { "name": "WAS", "pos": [ 224, 227 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Because of various features which include the presence of large and normal sized platelets ( rather than small platelets ) and freedom from significant immune deficiencies , it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype .	[ { "name": "immune deficiencies", "pos": [ 152, 171 ], "type": "Disease" }, { "name": "X linked recessive thrombocytopenia", "pos": [ 196, 231 ], "type": "Disease" }, { "name": "WAS", "pos": [ 303, 306 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
However , a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely . .	[ { "name": "WAS", "pos": [ 39, 42 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene .	[ { "name": "Macular dystrophy", "pos": [ 0, 17 ], "type": "Disease" }, { "name": "retinal degeneration", "pos": [ 70, 90 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
BACKGROUND Recently , mutations in the retinal degeneration slow ( rds ) gene which codes for peripherin - rds have been implicated as a cause of autosomal dominant retinitis pigmentosa .	[ { "name": "retinal degeneration", "pos": [ 39, 59 ], "type": "Disease" }, { "name": "autosomal dominant retinitis pigmentosa", "pos": [ 146, 185 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Because this gene is expressed in both rods and cones , mutations in the rds gene might be expected to cause degeneration affecting either the scotopic or photopic systems .	[]	ncbi	[ "Disease" ]
Mutations at codon 172 of the rds gene have been identified in three families with autosomal dominantly inherited , progressive macular dystrophy .	[ { "name": "macular dystrophy", "pos": [ 128, 145 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
METHODS Affected individuals underwent ophthalmic examination , scotopic perimetry , dark adaptometry , measurement of color - contrast sensitivity , and electroretinography to characterize the photoreceptor dysfunction .	[]	ncbi	[ "Disease" ]
RESULTS In all but one affected member , symptoms of progressive central visual loss developed in the third or fourth decade of life accompanied by central scotoma and well - demarcated atrophy of the retinal pigment epithelium and choriocapillaris of the macula .	[ { "name": "visual loss", "pos": [ 73, 84 ], "type": "Disease" }, { "name": "central scotoma", "pos": [ 148, 163 ], "type": "Disease" }, { "name": "atrophy of the retinal pigment epithelium", "pos": [ 186, 227 ], "type": "Disease" }, { "name": "choriocapillaris of the macula", "pos": [ 232, 262 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
In general , cone and rod thresholds were elevated , and color - contrast sensitivity was absent in the central visual field .	[]	ncbi	[ "Disease" ]
Peripherally , the scotopic sensitivities were normal , as was the recovery from bleach .	[]	ncbi	[ "Disease" ]
Cone electroretinograms were diminished in amplitude , and delayed in all affected adults except one .	[]	ncbi	[ "Disease" ]
Rod electroretinograms were normal or near normal in amplitude , and had normal implicit times .	[]	ncbi	[ "Disease" ]
Affected asymptomatic children had macular changes , abnormal color - contrast sensitivity , and reduced pattern and cone electroretinograms .	[]	ncbi	[ "Disease" ]
CONCLUSION These results indicate that mutations in the rds gene can be expressed as a macular dystrophy , with evidence of primary cone dysfunction and preservation of peripheral rod function . .	[ { "name": "macular dystrophy", "pos": [ 87, 104 ], "type": "Disease" }, { "name": "cone dysfunction", "pos": [ 132, 148 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Anonymous marker loci within 400 kb of HLA - A generate haplotypes in linkage disequilibrium with the hemochromatosis gene ( HFE )	[ { "name": "hemochromatosis", "pos": [ 102, 117 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The hemochromatosis gene ( HFE ) maps to 6p21 .	[ { "name": "hemochromatosis", "pos": [ 4, 19 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
3 and is less than 1 cM from the HLA class I genes ; however , the precise physical location of the gene has remained elusive and controversial .	[]	ncbi	[ "Disease" ]
The unambiguous identification of a crossover event within hemochromatosis families is very difficult ; it is particularly hampered by the variability of the phenotypic expression as well as by the sex - and age - related penetrance of the disease .	[ { "name": "hemochromatosis", "pos": [ 59, 74 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
For these practical considerations , traditional linkage analysis could prove of limited value in further refining the extrapolated physical position of HFE .	[]	ncbi	[ "Disease" ]
We therefore embarked upon a linkage - disequilibrium analysis of HFE and normal chromosomes from the Brittany population .	[]	ncbi	[ "Disease" ]
In the present report , 66 hemochromatosis families yielding 151 hemochromatosis chromosomes and 182 normal chromosomes were RFLP - typed with a battery of probes , including two newly derived polymorphic markers from the 6 .	[ { "name": "hemochromatosis", "pos": [ 27, 42 ], "type": "Disease" }, { "name": "hemochromatosis", "pos": [ 65, 80 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
7 and HLA - F loci located 150 and 250 kb telomeric to HLA - A , respectively .	[]	ncbi	[ "Disease" ]
The results suggest a strong peak of existing linkage disequilibrium focused within the i82 - to - 6 .	[]	ncbi	[ "Disease" ]
7 interval ( approximately 250 kb ) .	[]	ncbi	[ "Disease" ]
The zone of linkage disequilibrium is flanked by the i97 locus , positioned 30 kb proximal to i82 , and the HLA - F gene , found 250 kb distal to HLA - A , markers of which display no significant association with HFE .	[]	ncbi	[ "Disease" ]
These data support the possibility that HFE resides within the 400 - kb expanse of DNA between i97 and HLA - F .	[]	ncbi	[ "Disease" ]
Alternatively , the very tight association of HLA - A3 and allele 1 of the 6 .	[]	ncbi	[ "Disease" ]
7 locus , both of which are comprised by the major ancestral or founder HFE haplotype in Brittany , supports the possibility that the disease gene may reside immediately telomeric to the 6 .	[]	ncbi	[ "Disease" ]
7 locus within the linkage - disequilibrium zone .	[]	ncbi	[ "Disease" ]
Additionally , hemochromatosis haplotypes possessing HLA - A11 and the low - frequency HLA - F polymorphism ( allele 2 ) are supportive of a separate founder chromosome containing a second , independently arising mutant allele .	[ { "name": "hemochromatosis", "pos": [ 15, 30 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Overall , the establishment of a likely " hemochromatosis critical region " centromeric boundary and the identification of a linkage - disequilibrium zone both significantly contribute to a reduction in the amount of DNA required to be searched for novel coding sequences constituting the HFE defect	[ { "name": "hemochromatosis", "pos": [ 42, 57 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Genomic structure of the EWS gene and its relationship to EWSR1 , a site of tumor - associated chromosome translocation .	[ { "name": "tumor", "pos": [ 76, 81 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t ( 11 ; 22 ) ( q24 ; q12 ) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors .	[ { "name": "Ewing sarcoma", "pos": [ 155, 168 ], "type": "Disease" }, { "name": "neuroectodermal tumors", "pos": [ 181, 203 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The EWS gene spans about 40 kb of DNA and is encoded by 17 exons .	[]	ncbi	[ "Disease" ]
The nucleotide sequence of the exons is identical to that of the previously described cDNA .	[]	ncbi	[ "Disease" ]
The first 7 exons encode the N - terminal domain of EWS , which consists of a repeated degenerated polypeptide of 7 to 12 residues rich in tyrosine , serine , threonine , glycine , and glutamine .	[]	ncbi	[ "Disease" ]
Exons 11 , 12 , and 13 encode the putative RNA binding domain .	[]	ncbi	[ "Disease" ]
The three glycine - and arginine - rich motifs of the gene are mainly encoded by exons 8 - 9 , 14 , and 16 .	[]	ncbi	[ "Disease" ]
The DNA sequence in the 5 region of the gene has features of a CpG - rich island and lacks canonical promoter elements , such as TATA and CCAAT consensus sequences .	[]	ncbi	[ "Disease" ]
Positions of the chromosome 22 breakpoints were determined for 19 Ewing tumors .	[ { "name": "Ewing tumors", "pos": [ 66, 78 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
They were localized in introns 7 or 8 in 18 cases and in intron 10 in 1 case . .	[]	ncbi	[ "Disease" ]
Norrie disease gene : characterization of deletions and possible function .	[ { "name": "Norrie disease", "pos": [ 0, 14 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease ( pseudoglioma ; NDP ) , a severe X - linked neurodevelopmental disorder .	[ { "name": "Norrie disease", "pos": [ 95, 109 ], "type": "Disease" }, { "name": "pseudoglioma", "pos": [ 112, 124 ], "type": "Disease" }, { "name": "NDP", "pos": [ 127, 130 ], "type": "Disease" }, { "name": "X - linked neurodevelopmental disorder", "pos": [ 144, 182 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
Here we report the isolation and analysis of human genomic DNA clones encompassing the NDP gene .	[ { "name": "NDP", "pos": [ 87, 90 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
The gene spans 28 kb and consists of 3 exons , the first of which is entirely contained within the 5 untranslated region .	[]	ncbi	[ "Disease" ]
Detailed analysis of genomic deletions in Norrie patients shows that they are heterogeneous , both in size and in position .	[ { "name": "Norrie", "pos": [ 42, 48 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
By PCR analysis , we found that expression of the NDP gene was not confined to the eye or to the brain .	[ { "name": "NDP", "pos": [ 50, 53 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
An extensive DNA and protein sequence comparison between the human NDP gene and related genes from the database revealed homology with cysteine - rich protein - binding domains of immediate - - early genes implicated in the regulation of cell proliferation .	[ { "name": "NDP", "pos": [ 67, 70 ], "type": "Disease" } ]	ncbi	[ "Disease" ]
We propose that NDP is a molecule related in function to these genes and may be involved in a pathway that regulates neural cell differentiation and proliferation . .	[]	ncbi	[ "Disease" ]

A 27 - residue fragment of APC containing a 15 - amino acid repeat was sufficient for the interaction with the catenins .

[]

ncbi

[ "Disease" ]

These results suggest an important link between tumor initiation and cell adhesion . .

[ { "name": "tumor", "pos": [ 48, 53 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Difference in methylation patterns within the D15S9 region of chromosome 15q11 - 13 in first cousins with Angelman syndrome and Prader - Willi syndrome .

[ { "name": "Angelman syndrome", "pos": [ 106, 123 ], "type": "Disease" }, { "name": "Prader - Willi syndrome", "pos": [ 128, 151 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Abnormalities of chromosome region 15q11 - 13 are associated with Angelman syndrome ( AS ) and Prader - Willi syndrome ( PWS ) .

[ { "name": "Angelman syndrome", "pos": [ 66, 83 ], "type": "Disease" }, { "name": "AS", "pos": [ 86, 88 ], "type": "Disease" }, { "name": "Prader - Willi syndrome", "pos": [ 95, 118 ], "type": "Disease" }, { "name": "PWS", "pos": [ 121, 124 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Differences between the methylation patterns of the region of chromosome 15q11 - 13 which hybridizes to the highly conserved DNA , DN34 , in normal individuals and in patients with AS and PWS have been described .

[ { "name": "AS", "pos": [ 181, 183 ], "type": "Disease" }, { "name": "PWS", "pos": [ 188, 191 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11 - q13 .

[ { "name": "AS", "pos": [ 61, 63 ], "type": "Disease" }, { "name": "PWS", "pos": [ 68, 71 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting , whereby genetic information is expressed differently dependent on the parent of origin . .

[]

ncbi

[ "Disease" ]

Haplotype studies in Wilson disease .

[ { "name": "Wilson disease", "pos": [ 21, 35 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

In 51 families with Wilson disease , we have studied DNA haplotypes of dinucleotide repeat polymorphisms ( CA repeats ) in the 13q14 .

[ { "name": "Wilson disease", "pos": [ 20, 34 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

3 region , to examine these markers for association with the Wilson disease gene ( WND ) .

[ { "name": "Wilson disease", "pos": [ 61, 75 ], "type": "Disease" }, { "name": "WND", "pos": [ 83, 86 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

In addition to a marker ( D13S133 ) described elsewhere , we have developed three new highly polymorphic markers ( D13S314 , D13S315 , and D13S316 ) close to the WND locus .

[ { "name": "WND", "pos": [ 162, 165 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We have examined the distribution of marker alleles at the loci studied and have found that D13S314 , D13S133 , and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation .

[ { "name": "WND", "pos": [ 185, 188 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families .

[ { "name": "WND", "pos": [ 119, 122 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease .

[ { "name": "Wilson disease", "pos": [ 107, 121 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Genetic analysis of the BRCA1 region in a large breast / ovarian family : refinement of the minimal region containing BRCA1 .

[]

ncbi

[ "Disease" ]

We have analyzed a single multi - affected breast / ovarian cancer pedigree ( BOV3 ) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene .

[ { "name": "breast / ovarian cancer", "pos": [ 43, 66 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Analysis of 17q haplotypes shows a recombination event in a bilateral breast cancer case which suggests that the BRCA1 gene lies distal to D17S857 ; D17S857 is thus the new proximal boundary for the region containing BRCA1 .

[ { "name": "breast cancer", "pos": [ 70, 83 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Combining this information with previously published mapping information suggests that BRCA1 is contained in a region estimated at 1 - 1 .

[]

ncbi

[ "Disease" ]

5 Mb in length .

[]

ncbi

[ "Disease" ]

All seven breast tumour / blood pairs examined from this family show loss of heterozygosity in the tumours .

[ { "name": "breast tumour", "pos": [ 10, 23 ], "type": "Disease" }, { "name": "tumours", "pos": [ 99, 106 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The allel retained in each tumour was from the disease - bearing chromosome implicating BRCA1 as a tumour suppressor gene .

[ { "name": "tumour", "pos": [ 27, 33 ], "type": "Disease" }, { "name": "tumour", "pos": [ 99, 105 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We have sequenced the 17 beta - oestradiol dehydrogenase genes ( EDH17B1 and EDH17B2 ) which have been suggested as candidate genes for BRCA1 in four members of this family .

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ncbi

[ "Disease" ]

No germline mutations were detected .

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ncbi

[ "Disease" ]

Myotonic dystrophy kinase is a component of neuromuscular junctions .

[ { "name": "Myotonic dystrophy", "pos": [ 0, 18 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The clinical manifestation of myotonic dystrophy ( DM ) is correlated to the extent of expansion of an unstable [ CTG ] n DNA motif .

[ { "name": "myotonic dystrophy", "pos": [ 30, 48 ], "type": "Disease" }, { "name": "DM", "pos": [ 51, 53 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Recent studies have demonstrated that this trinucleotide motif forms part of the last , 3 untranslated exon of a gene which potentially encodes multiple protein isoforms of a serine / threonine protein kinase ( myotonic dystrophy protein kinase , DM - PK ) .

[ { "name": "myotonic dystrophy", "pos": [ 211, 229 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We report here on the development of antisera against synthetic DM - PK peptide antigens and their use in biochemical and histochemical studies .

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ncbi

[ "Disease" ]

Immunoreactive DM - kinase protein of 53 kD is present at low levels in skeletal and cardiac muscle extracts of DM patients and normal controls .

[ { "name": "DM", "pos": [ 15, 17 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Immunohistochemical staining revealed that DM - PK is localised prominently at sites of neuromuscular and myotendinous junctions ( NMJs and MTJs ) of human and rodent skeletal muscles .

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ncbi

[ "Disease" ]

Furthermore , very low levels of immunoreactive DM - PK protein are present in the sarcoplasm of predominantly type I fibres in various muscles .

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ncbi

[ "Disease" ]

Strikingly , presence of the protein can also be demonstrated for NMJs of muscular tissues of adult and congenital cases of DM , with no gross changes in structural organisation .

[ { "name": "DM", "pos": [ 124, 126 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Our findings provide a basis for further characterisation of the role of the kinase in protein assembly processes or signal mediation at synaptic sites and ultimately for the understanding of the complex pathophysiology of DM . .

[ { "name": "DM", "pos": [ 223, 225 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Markedly accelerated catabolism of apolipoprotein A - II ( ApoA - II ) and high density lipoproteins containing ApoA - II in classic lecithin : cholesterol acyltransferase deficiency and fish - eye disease .

[ { "name": "cholesterol acyltransferase deficiency", "pos": [ 144, 182 ], "type": "Disease" }, { "name": "fish - eye disease", "pos": [ 187, 205 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Classic ( complete ) lecithin cholesterol acyltransferase ( LCAT ) deficiency and Fish - eye disease ( partial LCAT deficiency ) are genetic syndromes associated with markedly decreased plasma levels of high density lipoprotein ( HDL ) cholesterol but not with an increased risk of atherosclerotic cardiovascular disease .

[ { "name": "Classic ( complete ) lecithin cholesterol acyltransferase ( LCAT ) deficiency", "pos": [ 0, 77 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 82, 100 ], "type": "Disease" }, { "name": "partial LCAT deficiency", "pos": [ 103, 126 ], "type": "Disease" }, { "name": "atherosclerotic cardiovascular disease", "pos": [ 282, 320 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We investigated the metabolism of the HDL apolipoproteins ( apo ) apoA - I and apoA - II in a total of five patients with LCAT deficiency , one with classic LCAT deficiency and four with Fish - eye disease .

[ { "name": "LCAT deficiency", "pos": [ 122, 137 ], "type": "Disease" }, { "name": "classic LCAT deficiency", "pos": [ 149, 172 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 187, 205 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Plasma levels of apoA - II were decreased to a proportionately greater extent ( 23 % of normal ) than apoA - I ( 30 % of normal ) .

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ncbi

[ "Disease" ]

In addition , plasma concentrations of HDL particles containing both apoA - I and apoA - II ( LpA - I A - II ) were much lower ( 18 % of normal ) than those of particles containing only apoA - I ( LpA - I ) ( 51 % of normal ) .

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ncbi

[ "Disease" ]

The metabolic basis for the low levels of apoA - II and LpA - I A - II was investigated in all five patients using both exogenous radiotracer and endogenous stable isotope labeling techniques .

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ncbi

[ "Disease" ]

The mean plasma residence time of apoA - I was decreased at 2 .

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ncbi

[ "Disease" ]

08 + / - 0 .

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ncbi

[ "Disease" ]

27 d ( controls 4 . 74 + / - 0 . 65 days ) ; however , the residence time of apoA - II was even shorter at 1 .

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ncbi

[ "Disease" ]

66 + / - 0 .

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ncbi

[ "Disease" ]

24 d ( controls 5 . 25 + / - 0 . 61 d ) .

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ncbi

[ "Disease" ]

In addition , the catabolism of apoA - I in LpA - I A - II was substantially faster than that of apoA - I in LpA - I .

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ncbi

[ "Disease" ]

In summary , genetic syndromes of either complete or partial LCAT deficiency result in low levels of HDL through preferential hypercatabolism of apoA - II and HDL particles containing apoA - II .

[ { "name": "complete or partial LCAT deficiency", "pos": [ 41, 76 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Because LpA - I has been proposed to be more protective than LpA - I A - II against atherosclerosis , this selective effect on the metabolism of LpA - I A - II may provide a potential explanation why patients with classic LCAT deficiency and Fish - eye disease are not at increased risk for premature atherosclerosis despite markedly decreased levels of HDL cholesterol and apoA - I

[ { "name": "atherosclerosis", "pos": [ 84, 99 ], "type": "Disease" }, { "name": "classic LCAT deficiency", "pos": [ 214, 237 ], "type": "Disease" }, { "name": "Fish - eye disease", "pos": [ 242, 260 ], "type": "Disease" }, { "name": "atherosclerosis", "pos": [ 301, 316 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

X linked recessive thrombocytopenia .

[ { "name": "X linked recessive thrombocytopenia", "pos": [ 0, 35 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

A Saudi Arab boy presented in early childhood with thrombocytopenia , morphologically large and normal sized platelets , increased mean platelet volume , and a hypermegakaryocytic bone marrow .

[ { "name": "thrombocytopenia", "pos": [ 51, 67 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

There was no clinical and laboratory evidence of any significant immunological abnormalities .

[ { "name": "immunological abnormalities", "pos": [ 65, 92 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder .

[ { "name": "X linked recessive thrombocytopenic disorder", "pos": [ 95, 139 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott - Aldrich syndrome ( WAS ) .

[ { "name": "Wiskott - Aldrich syndrome", "pos": [ 195, 221 ], "type": "Disease" }, { "name": "WAS", "pos": [ 224, 227 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Because of various features which include the presence of large and normal sized platelets ( rather than small platelets ) and freedom from significant immune deficiencies , it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype .

[ { "name": "immune deficiencies", "pos": [ 152, 171 ], "type": "Disease" }, { "name": "X linked recessive thrombocytopenia", "pos": [ 196, 231 ], "type": "Disease" }, { "name": "WAS", "pos": [ 303, 306 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

However , a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely . .

[ { "name": "WAS", "pos": [ 39, 42 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene .

[ { "name": "Macular dystrophy", "pos": [ 0, 17 ], "type": "Disease" }, { "name": "retinal degeneration", "pos": [ 70, 90 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

BACKGROUND Recently , mutations in the retinal degeneration slow ( rds ) gene which codes for peripherin - rds have been implicated as a cause of autosomal dominant retinitis pigmentosa .

[ { "name": "retinal degeneration", "pos": [ 39, 59 ], "type": "Disease" }, { "name": "autosomal dominant retinitis pigmentosa", "pos": [ 146, 185 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Because this gene is expressed in both rods and cones , mutations in the rds gene might be expected to cause degeneration affecting either the scotopic or photopic systems .

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[ "Disease" ]

Mutations at codon 172 of the rds gene have been identified in three families with autosomal dominantly inherited , progressive macular dystrophy .

[ { "name": "macular dystrophy", "pos": [ 128, 145 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

METHODS Affected individuals underwent ophthalmic examination , scotopic perimetry , dark adaptometry , measurement of color - contrast sensitivity , and electroretinography to characterize the photoreceptor dysfunction .

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ncbi

[ "Disease" ]

RESULTS In all but one affected member , symptoms of progressive central visual loss developed in the third or fourth decade of life accompanied by central scotoma and well - demarcated atrophy of the retinal pigment epithelium and choriocapillaris of the macula .

[ { "name": "visual loss", "pos": [ 73, 84 ], "type": "Disease" }, { "name": "central scotoma", "pos": [ 148, 163 ], "type": "Disease" }, { "name": "atrophy of the retinal pigment epithelium", "pos": [ 186, 227 ], "type": "Disease" }, { "name": "choriocapillaris of the macula", "pos": [ 232, 262 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

In general , cone and rod thresholds were elevated , and color - contrast sensitivity was absent in the central visual field .

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ncbi

[ "Disease" ]

Peripherally , the scotopic sensitivities were normal , as was the recovery from bleach .

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ncbi

[ "Disease" ]

Cone electroretinograms were diminished in amplitude , and delayed in all affected adults except one .

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ncbi

[ "Disease" ]

Rod electroretinograms were normal or near normal in amplitude , and had normal implicit times .

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ncbi

[ "Disease" ]

Affected asymptomatic children had macular changes , abnormal color - contrast sensitivity , and reduced pattern and cone electroretinograms .

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ncbi

[ "Disease" ]

CONCLUSION These results indicate that mutations in the rds gene can be expressed as a macular dystrophy , with evidence of primary cone dysfunction and preservation of peripheral rod function . .

[ { "name": "macular dystrophy", "pos": [ 87, 104 ], "type": "Disease" }, { "name": "cone dysfunction", "pos": [ 132, 148 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Anonymous marker loci within 400 kb of HLA - A generate haplotypes in linkage disequilibrium with the hemochromatosis gene ( HFE )

[ { "name": "hemochromatosis", "pos": [ 102, 117 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The hemochromatosis gene ( HFE ) maps to 6p21 .

[ { "name": "hemochromatosis", "pos": [ 4, 19 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

3 and is less than 1 cM from the HLA class I genes ; however , the precise physical location of the gene has remained elusive and controversial .

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ncbi

[ "Disease" ]

The unambiguous identification of a crossover event within hemochromatosis families is very difficult ; it is particularly hampered by the variability of the phenotypic expression as well as by the sex - and age - related penetrance of the disease .

[ { "name": "hemochromatosis", "pos": [ 59, 74 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

For these practical considerations , traditional linkage analysis could prove of limited value in further refining the extrapolated physical position of HFE .

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ncbi

[ "Disease" ]

We therefore embarked upon a linkage - disequilibrium analysis of HFE and normal chromosomes from the Brittany population .

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ncbi

[ "Disease" ]

In the present report , 66 hemochromatosis families yielding 151 hemochromatosis chromosomes and 182 normal chromosomes were RFLP - typed with a battery of probes , including two newly derived polymorphic markers from the 6 .

[ { "name": "hemochromatosis", "pos": [ 27, 42 ], "type": "Disease" }, { "name": "hemochromatosis", "pos": [ 65, 80 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

7 and HLA - F loci located 150 and 250 kb telomeric to HLA - A , respectively .

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ncbi

[ "Disease" ]

The results suggest a strong peak of existing linkage disequilibrium focused within the i82 - to - 6 .

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ncbi

[ "Disease" ]

7 interval ( approximately 250 kb ) .

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ncbi

[ "Disease" ]

The zone of linkage disequilibrium is flanked by the i97 locus , positioned 30 kb proximal to i82 , and the HLA - F gene , found 250 kb distal to HLA - A , markers of which display no significant association with HFE .

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ncbi

[ "Disease" ]

These data support the possibility that HFE resides within the 400 - kb expanse of DNA between i97 and HLA - F .

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ncbi

[ "Disease" ]

Alternatively , the very tight association of HLA - A3 and allele 1 of the 6 .

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ncbi

[ "Disease" ]

7 locus , both of which are comprised by the major ancestral or founder HFE haplotype in Brittany , supports the possibility that the disease gene may reside immediately telomeric to the 6 .

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ncbi

[ "Disease" ]

7 locus within the linkage - disequilibrium zone .

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ncbi

[ "Disease" ]

Additionally , hemochromatosis haplotypes possessing HLA - A11 and the low - frequency HLA - F polymorphism ( allele 2 ) are supportive of a separate founder chromosome containing a second , independently arising mutant allele .

[ { "name": "hemochromatosis", "pos": [ 15, 30 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Overall , the establishment of a likely " hemochromatosis critical region " centromeric boundary and the identification of a linkage - disequilibrium zone both significantly contribute to a reduction in the amount of DNA required to be searched for novel coding sequences constituting the HFE defect

[ { "name": "hemochromatosis", "pos": [ 42, 57 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Genomic structure of the EWS gene and its relationship to EWSR1 , a site of tumor - associated chromosome translocation .

[ { "name": "tumor", "pos": [ 76, 81 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t ( 11 ; 22 ) ( q24 ; q12 ) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors .

[ { "name": "Ewing sarcoma", "pos": [ 155, 168 ], "type": "Disease" }, { "name": "neuroectodermal tumors", "pos": [ 181, 203 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The EWS gene spans about 40 kb of DNA and is encoded by 17 exons .

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ncbi

[ "Disease" ]

The nucleotide sequence of the exons is identical to that of the previously described cDNA .

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ncbi

[ "Disease" ]

The first 7 exons encode the N - terminal domain of EWS , which consists of a repeated degenerated polypeptide of 7 to 12 residues rich in tyrosine , serine , threonine , glycine , and glutamine .

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ncbi

[ "Disease" ]

Exons 11 , 12 , and 13 encode the putative RNA binding domain .

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ncbi

[ "Disease" ]

The three glycine - and arginine - rich motifs of the gene are mainly encoded by exons 8 - 9 , 14 , and 16 .

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ncbi

[ "Disease" ]

The DNA sequence in the 5 region of the gene has features of a CpG - rich island and lacks canonical promoter elements , such as TATA and CCAAT consensus sequences .

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ncbi

[ "Disease" ]

Positions of the chromosome 22 breakpoints were determined for 19 Ewing tumors .

[ { "name": "Ewing tumors", "pos": [ 66, 78 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

They were localized in introns 7 or 8 in 18 cases and in intron 10 in 1 case . .

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ncbi

[ "Disease" ]

Norrie disease gene : characterization of deletions and possible function .

[ { "name": "Norrie disease", "pos": [ 0, 14 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease ( pseudoglioma ; NDP ) , a severe X - linked neurodevelopmental disorder .

[ { "name": "Norrie disease", "pos": [ 95, 109 ], "type": "Disease" }, { "name": "pseudoglioma", "pos": [ 112, 124 ], "type": "Disease" }, { "name": "NDP", "pos": [ 127, 130 ], "type": "Disease" }, { "name": "X - linked neurodevelopmental disorder", "pos": [ 144, 182 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

Here we report the isolation and analysis of human genomic DNA clones encompassing the NDP gene .

[ { "name": "NDP", "pos": [ 87, 90 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

The gene spans 28 kb and consists of 3 exons , the first of which is entirely contained within the 5 untranslated region .

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ncbi

[ "Disease" ]

Detailed analysis of genomic deletions in Norrie patients shows that they are heterogeneous , both in size and in position .

[ { "name": "Norrie", "pos": [ 42, 48 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

By PCR analysis , we found that expression of the NDP gene was not confined to the eye or to the brain .

[ { "name": "NDP", "pos": [ 50, 53 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

An extensive DNA and protein sequence comparison between the human NDP gene and related genes from the database revealed homology with cysteine - rich protein - binding domains of immediate - - early genes implicated in the regulation of cell proliferation .

[ { "name": "NDP", "pos": [ 67, 70 ], "type": "Disease" } ]

ncbi

[ "Disease" ]

We propose that NDP is a molecule related in function to these genes and may be involved in a pathway that regulates neural cell differentiation and proliferation . .

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ncbi

[ "Disease" ]