PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 3092188-5 1986 In a construct for producing beta-galactosidase, the effects on translational yields of the tri-nucleotide 5" to the initiation codon are dependent on the entire triplet. tri-nucleotide 92-106 galactosidase beta 1 Homo sapiens 29-47 30271085-4 2018 Whole exome sequencing revealed a novel truncating variant (c.2158C>T/p.Gln720Stop) together with a novel tri-nucleotide insertion (c.893_894insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene. tri-nucleotide 109-123 methionyl-tRNA synthetase 1 Homo sapiens 227-231 32082115-2 2020 Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9orf72 and the tri-nucleotide repeat in ATXN2, both of which are associated with familial and sporadic ALS. tri-nucleotide 149-163 ataxin 2 Homo sapiens 174-179 32082115-2 2020 Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9orf72 and the tri-nucleotide repeat in ATXN2, both of which are associated with familial and sporadic ALS. tri-nucleotide 149-163 superoxide dismutase 1 Homo sapiens 237-240 33565318-3 2021 Cytosine-adenine repeat (IGF-I), rs3877899, G-2548A, GGC (eRF3a/GSPT1), IVS2nt-124A/G have shown an increased risk of breast cancers and a decreased risk has been observed in 4G/5G (PAI-1), rs6505162, Tri-nucleotide (GCG TGFBR1). tri-nucleotide 201-215 insulin like growth factor 1 Homo sapiens 0-30 25358814-2 2014 In Huntington"s disease (HD), a neurodegenerative disease caused by a tri-nucleotide repeat expansion in the huntingtin gene, extensive transcriptional dysregulation has been reported. tri-nucleotide 70-84 huntingtin Homo sapiens 109-119 29556396-12 2018 Moreover, our results also confirmed an association between long tri-nucleotide repeats of androgen receptor, sex steroids, pituitary, and thyroid hormones in relation to acquired premature ejaculatory dysfunction in diabetic patients. tri-nucleotide 65-79 androgen receptor Homo sapiens 91-108 28498846-0 2017 MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain. tri-nucleotide 37-51 methyl-CpG binding protein 2 Homo sapiens 0-5 28498846-3 2017 Here we show by in vitro and in vivo analyses that MeCP2 binding to non-CG methylated sites in brain is largely confined to the tri-nucleotide sequence mCAC. tri-nucleotide 128-142 methyl-CpG binding protein 2 Homo sapiens 51-56 28498846-3 2017 Here we show by in vitro and in vivo analyses that MeCP2 binding to non-CG methylated sites in brain is largely confined to the tri-nucleotide sequence mCAC. tri-nucleotide 128-142 recessive cataract Mus musculus 152-156 28084402-4 2017 We fine-mapped the regulatory region located in SMIM1 intron 2 in Swedish blood donors, and observed a strong correlation between expression and rs1175550 as well as with a previously unreported tri-nucleotide insertion (rs143702418; C > CGCA). tri-nucleotide 195-209 small integral membrane protein 1 (Vel blood group) Homo sapiens 48-53 29111027-1 2017 Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressive cerebellar ataxia, is caused by a tri-nucleotide CTG repeat expansion (CTGexp) in the SCA8 gene. tri-nucleotide 148-162 ataxin 8 Homo sapiens 0-29 29111027-1 2017 Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressive cerebellar ataxia, is caused by a tri-nucleotide CTG repeat expansion (CTGexp) in the SCA8 gene. tri-nucleotide 148-162 ataxin 8 Homo sapiens 31-35 29111027-1 2017 Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressive cerebellar ataxia, is caused by a tri-nucleotide CTG repeat expansion (CTGexp) in the SCA8 gene. tri-nucleotide 148-162 ataxin 8 Homo sapiens 200-204 27660999-0 2017 A Tri-Nucleotide Pattern in a 3" UTR Segment Affects The Activity of a Human Glucocorticoid Receptor Isoform. tri-nucleotide 2-16 nuclear receptor subfamily 3 group C member 1 Homo sapiens 77-100 22718980-3 2012 The CCG repeats are associated with three tri-nucleotide repeat disorders: Huntington"s disease, myotonic dystrophy type 1 and chromosome X-linked mental retardation (FRAXE). tri-nucleotide 42-56 fragile site, folic acid type, rare, fra(X)(q28) E Homo sapiens 167-172 24503862-1 2014 Huntington"s disease (HD) is a devastating, genetic neurodegenerative disease caused by a tri-nucleotide expansion in exon 1 of the huntingtin gene. tri-nucleotide 90-104 huntingtin Homo sapiens 132-142 22393909-1 2012 Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder caused by a small expansion of tri-nucleotide (CAG) repeat encoding polyglutamine (polyQ) in the gene for alpha(1A) voltage-dependent calcium channel (Ca(v) 2.1). tri-nucleotide 120-134 calcium voltage-gated channel subunit alpha1 A Homo sapiens 0-29 22393909-1 2012 Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder caused by a small expansion of tri-nucleotide (CAG) repeat encoding polyglutamine (polyQ) in the gene for alpha(1A) voltage-dependent calcium channel (Ca(v) 2.1). tri-nucleotide 120-134 calcium voltage-gated channel subunit alpha1 A Homo sapiens 31-35 22393909-1 2012 Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder caused by a small expansion of tri-nucleotide (CAG) repeat encoding polyglutamine (polyQ) in the gene for alpha(1A) voltage-dependent calcium channel (Ca(v) 2.1). tri-nucleotide 120-134 calcium voltage-gated channel subunit alpha1 A Homo sapiens 195-238 22393909-1 2012 Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder caused by a small expansion of tri-nucleotide (CAG) repeat encoding polyglutamine (polyQ) in the gene for alpha(1A) voltage-dependent calcium channel (Ca(v) 2.1). tri-nucleotide 120-134 immunoglobulin lambda variable 3-1 Homo sapiens 240-249 21971961-3 2011 The disorder is caused by an expanded cystosine adenine guanine (CAG) tri-nucleotide repeat encoding polyglutamine (polyQ) in the first exon of the Huntingtin gene. tri-nucleotide 70-84 huntingtin Homo sapiens 148-158 17431729-0 2007 Association of tri-nucleotide (CAG and GGC) repeat polymorphism of androgen receptor gene in Taiwanese women with refractory or remission rheumatoid arthritis. tri-nucleotide 15-29 androgen receptor Homo sapiens 67-84 20979941-2 2010 We studied the effect of tri-nucleotide repeat (CTGs) polymorphisms in exon 2 of the CNDP1 gene, which codes for carnosinase and is responsible for the degradation of carnosine, on the clinical outcome of Chinese peritoneal dialysis (PD) patients. tri-nucleotide 25-39 carnosine dipeptidase 1 Homo sapiens 85-90 17482958-0 2007 CYP19 TCT tri-nucleotide Del/Del genotype is a susceptibility marker for prostate cancer in a Taiwanese population. tri-nucleotide 10-24 cytochrome P450 family 19 subfamily A member 1 Homo sapiens 0-5 16872533-11 2006 Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group. tri-nucleotide 54-68 myocyte enhancer factor 2A Homo sapiens 103-108 16951497-5 2006 RESULTS: The tri-nucleotide (CAG) length polymorphism in the last coding exon of MEF2A in the Chinese was revealed and 4 of the 175 (2.3%) CAD samples containing 4 prolines were due to one proline deletion in MEF2A gene. tri-nucleotide 13-27 myocyte enhancer factor 2A Homo sapiens 81-86 34680707-8 2021 We detected 105 repeat motifs, of which AT/AT (50.19%), AC/GT (39.15%), CAA/TTG (32.46%), and ACA/TGT (10.86%) were the most common in di- and tri-nucleotide repeats. tri-nucleotide 143-157 queuine tRNA-ribosyltransferase catalytic subunit Bactrocera dorsalis 98-101 16644517-1 2006 Friedreich"s ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. tri-nucleotide 184-198 alpha glucosidase Homo sapiens 180-183 18404512-8 2005 Tri-nucleotide pretreatment also reduced the EGF induced Ca(2+) response. tri-nucleotide 0-14 epidermal growth factor Homo sapiens 45-48 10369863-1 1999 Spinocerebellar ataxia type 6 (SCA6) is one of the eight neurodegenerative diseases caused by a tri-nucleotide (CAG) repeat expansion coding polyglutamine (CAG repeat/polyglutamine diseases) and is characterized by late onset autosomal dominant cerebellar ataxia and predominant loss of cerebellar Purkinje cells. tri-nucleotide 96-110 calcium voltage-gated channel subunit alpha1 A Homo sapiens 0-29 10369863-1 1999 Spinocerebellar ataxia type 6 (SCA6) is one of the eight neurodegenerative diseases caused by a tri-nucleotide (CAG) repeat expansion coding polyglutamine (CAG repeat/polyglutamine diseases) and is characterized by late onset autosomal dominant cerebellar ataxia and predominant loss of cerebellar Purkinje cells. tri-nucleotide 96-110 calcium voltage-gated channel subunit alpha1 A Homo sapiens 31-35