PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 33070471-1 2021 BACKGROUND: Huntington"s disease (HD) is a heritable degenerative brain disease caused by a mutation in the huntingtin gene with excessive repeats of the base triplet cytosine-adenine-guanine (CAG), which codes for the aminoacid glutamine. cytosine-adenine-guanine 167-191 huntingtin Homo sapiens 108-118 33049985-1 2020 Huntington"s disease is a rare neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) trinucleotide expansion in the Huntingtin (HTT) gene. cytosine-adenine-guanine 69-93 huntingtin Homo sapiens 131-141 32686867-1 2020 BACKGROUND: Huntington"s disease (HD) develops in individuals with extended cytosine-adenine-guanine (CAG) repeats within the huntingtin (HTT) gene, causing neurodegeneration and progressive motor and cognitive symptoms. cytosine-adenine-guanine 76-100 huntingtin Homo sapiens 126-136 32686867-1 2020 BACKGROUND: Huntington"s disease (HD) develops in individuals with extended cytosine-adenine-guanine (CAG) repeats within the huntingtin (HTT) gene, causing neurodegeneration and progressive motor and cognitive symptoms. cytosine-adenine-guanine 76-100 huntingtin Homo sapiens 138-141 33049985-1 2020 Huntington"s disease is a rare neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) trinucleotide expansion in the Huntingtin (HTT) gene. cytosine-adenine-guanine 69-93 huntingtin Homo sapiens 143-146 31304621-2 2019 HD is driven by elongated cytosine-adenine-guanine (CAG) repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene (HTTg) which encode the huntingtin protein (HTT). cytosine-adenine-guanine 26-50 huntingtin Homo sapiens 130-140 32784364-1 2020 Huntington"s disease (HD) is a fatal neurodegenerative disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene. cytosine-adenine-guanine 90-114 huntingtin Homo sapiens 136-146 33209959-1 2020 Novel treatments for Huntington"s disease (HD), a progressive neurodegenerative disorder, include selective targeting of the mutant allele of the huntingtin gene (mHTT) carrying the abnormally expanded disease-causing cytosine-adenine-guanine (CAG) repeat. cytosine-adenine-guanine 218-242 huntingtin Homo sapiens 146-156 32548276-1 2020 Background: The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments. cytosine-adenine-guanine 49-73 huntingtin Homo sapiens 16-26 32548276-1 2020 Background: The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments. cytosine-adenine-guanine 49-73 huntingtin Homo sapiens 33-36 31304621-2 2019 HD is driven by elongated cytosine-adenine-guanine (CAG) repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene (HTTg) which encode the huntingtin protein (HTT). cytosine-adenine-guanine 26-50 huntingtin Homo sapiens 170-180 31304621-2 2019 HD is driven by elongated cytosine-adenine-guanine (CAG) repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene (HTTg) which encode the huntingtin protein (HTT). cytosine-adenine-guanine 26-50 huntingtin Homo sapiens 147-150 30679892-1 2018 AIM: Huntington"s disease (HD) is an inherited disease caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HTT) that ultimately leads to neurodegeneration. cytosine-adenine-guanine 81-105 huntingtin Homo sapiens 127-137 30563778-4 2019 Eligible patients had clinical onset after age 18 years, 36 or more cytosine-adenine-guanine repeats in the huntingtin gene, motor symptoms (Unified Huntington"s Disease Rating Scale total motor score [UHDRS-TMS] >=25 points), and reduced independence (UHDRS independence score <=90%). cytosine-adenine-guanine 68-92 huntingtin Homo sapiens 108-118 30632085-6 2019 Expansion of cytosine-adenine-guanine (CAG) triplet repeats in the HTT gene results in an abnormal Htt protein. cytosine-adenine-guanine 13-37 huntingtin Homo sapiens 67-70 30632085-6 2019 Expansion of cytosine-adenine-guanine (CAG) triplet repeats in the HTT gene results in an abnormal Htt protein. cytosine-adenine-guanine 13-37 huntingtin Homo sapiens 99-102 31727211-1 2019 Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded cytosine-adenine-guanine triplet repeat in the huntingtin gene. cytosine-adenine-guanine 89-113 huntingtin Homo sapiens 136-146 30679892-1 2018 AIM: Huntington"s disease (HD) is an inherited disease caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HTT) that ultimately leads to neurodegeneration. cytosine-adenine-guanine 81-105 huntingtin Homo sapiens 144-147 28585930-2 2017 Recently, we showed that both relatively short and relatively long cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HTT) are associated with an increased risk of lifetime depression. cytosine-adenine-guanine 67-91 huntingtin Homo sapiens 113-123 29377621-2 2018 The cytosine-adenine-guanine (CAG) triplet expansion encoding glutamine present in the protein huntingtin (Htt), produces widespread neuronal and glial pathology. cytosine-adenine-guanine 4-28 huntingtin Homo sapiens 95-105 29377621-2 2018 The cytosine-adenine-guanine (CAG) triplet expansion encoding glutamine present in the protein huntingtin (Htt), produces widespread neuronal and glial pathology. cytosine-adenine-guanine 4-28 huntingtin Homo sapiens 107-110 29225330-1 2017 Huntington disease (HD) is a severe neuropsychiatric disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the HTT gene. cytosine-adenine-guanine 74-98 huntingtin Homo sapiens 129-132 29898922-1 2018 Huntington"s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat (TNR) expansion within the HTT gene. cytosine-adenine-guanine 94-118 huntingtin Homo sapiens 173-176 28585930-2 2017 Recently, we showed that both relatively short and relatively long cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HTT) are associated with an increased risk of lifetime depression. cytosine-adenine-guanine 67-91 huntingtin Homo sapiens 130-133 27481337-1 2016 We present a novel, general class of disease progression models for Huntington"s disease (HD), a neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) triplet repeat expansion on the huntingtin gene. cytosine-adenine-guanine 135-159 huntingtin Homo sapiens 198-208 27740685-1 2017 Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine-adenine-guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. cytosine-adenine-guanine 96-120 huntingtin Homo sapiens 160-170 25290828-1 2015 Huntington"s disease (HD) is the most common inherited neurodegenerative disorder among polyglutamine (polyQ) diseases caused by cytosine-adenine-guanine repeat expansion in exon 1 of the huntingtin gene whose translation results in polyQ stretch in the N-terminus of the huntingtin protein (HD protein). cytosine-adenine-guanine 129-153 huntingtin Homo sapiens 188-198 25847392-5 2015 We apply the method to estimate the cumulative risk of developing Huntington"s disease (HD) from subjects with huntingtin gene mutation using a large collaborative HD study data and illustrate an inverse relationship between the cumulative risk of HD and the length of cytosine-adenine-guanine repeats in the huntingtin gene. cytosine-adenine-guanine 269-293 huntingtin Homo sapiens 111-121 25847392-5 2015 We apply the method to estimate the cumulative risk of developing Huntington"s disease (HD) from subjects with huntingtin gene mutation using a large collaborative HD study data and illustrate an inverse relationship between the cumulative risk of HD and the length of cytosine-adenine-guanine repeats in the huntingtin gene. cytosine-adenine-guanine 269-293 huntingtin Homo sapiens 309-319 25290828-1 2015 Huntington"s disease (HD) is the most common inherited neurodegenerative disorder among polyglutamine (polyQ) diseases caused by cytosine-adenine-guanine repeat expansion in exon 1 of the huntingtin gene whose translation results in polyQ stretch in the N-terminus of the huntingtin protein (HD protein). cytosine-adenine-guanine 129-153 huntingtin Homo sapiens 272-282 26443925-8 2015 Length of cytosine-adenine-guanine (CAG) repeat in the huntingtin gene was significantly correlated to measures of weight with longer CAG repeats being associated with more severe weight reduction. cytosine-adenine-guanine 10-34 huntingtin Homo sapiens 55-65 23906595-1 2013 Huntington"s disease (HD) is a neurodegenerative disease caused by cytosine-adenine-guanine (CAG)-repeat expansion in the huntingtin (HTT) gene. cytosine-adenine-guanine 67-91 huntingtin Homo sapiens 122-132 23906595-1 2013 Huntington"s disease (HD) is a neurodegenerative disease caused by cytosine-adenine-guanine (CAG)-repeat expansion in the huntingtin (HTT) gene. cytosine-adenine-guanine 67-91 huntingtin Homo sapiens 134-137 23953200-1 2013 Huntington"s disease (HD) is a neurodegenerative disorder caused by trinucleotide CAG (Cytosine-Adenine-Guanine) expansion on the Huntingtin gene (HTT) encoding for the Huntingtin protein (Htt). cytosine-adenine-guanine 87-111 huntingtin Homo sapiens 130-140 23953200-1 2013 Huntington"s disease (HD) is a neurodegenerative disorder caused by trinucleotide CAG (Cytosine-Adenine-Guanine) expansion on the Huntingtin gene (HTT) encoding for the Huntingtin protein (Htt). cytosine-adenine-guanine 87-111 huntingtin Homo sapiens 147-150 23953200-1 2013 Huntington"s disease (HD) is a neurodegenerative disorder caused by trinucleotide CAG (Cytosine-Adenine-Guanine) expansion on the Huntingtin gene (HTT) encoding for the Huntingtin protein (Htt). cytosine-adenine-guanine 87-111 huntingtin Homo sapiens 169-179 23953200-1 2013 Huntington"s disease (HD) is a neurodegenerative disorder caused by trinucleotide CAG (Cytosine-Adenine-Guanine) expansion on the Huntingtin gene (HTT) encoding for the Huntingtin protein (Htt). cytosine-adenine-guanine 87-111 huntingtin Homo sapiens 189-192 22138129-2 2012 The disease is caused by a cytosine-adenine-guanine (CAG) repeat expansion in the huntingtin gene, which causes an expanded polyglutamine repeat in the huntingtin protein, resulting in a protein with a novel gain of function. cytosine-adenine-guanine 27-51 huntingtin Homo sapiens 82-92 23853009-4 2013 Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. cytosine-adenine-guanine 160-184 huntingtin Homo sapiens 212-222 23557875-3 2013 Huntington disease (HD) is an inherited autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) triplet repeat expansion in the coding region of the huntingtin (HTT) gene. cytosine-adenine-guanine 98-122 huntingtin Homo sapiens 182-192 23557875-3 2013 Huntington disease (HD) is an inherited autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) triplet repeat expansion in the coding region of the huntingtin (HTT) gene. cytosine-adenine-guanine 98-122 huntingtin Homo sapiens 194-197 22974690-1 2012 Huntington"s Disease (HD) is a neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) triplet repeat-expansion in the Huntingtin (HTT) gene. cytosine-adenine-guanine 70-94 huntingtin Homo sapiens 133-143 22974690-1 2012 Huntington"s Disease (HD) is a neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) triplet repeat-expansion in the Huntingtin (HTT) gene. cytosine-adenine-guanine 70-94 huntingtin Homo sapiens 145-148 22649062-2 2012 HD is caused by a cytosine-adenine-guanine triplet-repeat expansion mutation in the Huntingtin gene, allowing early diagnosis by genetic testing. cytosine-adenine-guanine 18-42 huntingtin Homo sapiens 84-94 22138129-2 2012 The disease is caused by a cytosine-adenine-guanine (CAG) repeat expansion in the huntingtin gene, which causes an expanded polyglutamine repeat in the huntingtin protein, resulting in a protein with a novel gain of function. cytosine-adenine-guanine 27-51 huntingtin Homo sapiens 152-162 20649476-1 2011 Huntington"s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene Htt. cytosine-adenine-guanine 103-127 huntingtin Homo sapiens 149-159 20649476-1 2011 Huntington"s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene Htt. cytosine-adenine-guanine 103-127 huntingtin Homo sapiens 165-168 18488016-3 2008 HD is caused by the expansion of cytosine-adenine-guanine (CAG, translated into glutamine) trinucleotide repeats in the first exon of the human huntingtin (HTT) gene. cytosine-adenine-guanine 33-57 huntingtin Homo sapiens 144-154 18488016-3 2008 HD is caused by the expansion of cytosine-adenine-guanine (CAG, translated into glutamine) trinucleotide repeats in the first exon of the human huntingtin (HTT) gene. cytosine-adenine-guanine 33-57 huntingtin Homo sapiens 156-159 18588526-1 2008 Huntington"s disease (HD) is caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss in the striatum and cortex and to the appearance of neuronal intranuclear inclusions of mutant huntingtin. cytosine-adenine-guanine 55-79 huntingtin Homo sapiens 101-111 18588526-1 2008 Huntington"s disease (HD) is caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss in the striatum and cortex and to the appearance of neuronal intranuclear inclusions of mutant huntingtin. cytosine-adenine-guanine 55-79 huntingtin Homo sapiens 242-252 16504973-13 2006 The extent of lateralization was strongly related to age at onset and to the number of cytosine-adenine-guanine (CAG) triplet repeats on gene IT15. cytosine-adenine-guanine 87-111 huntingtin Homo sapiens 142-146 34911927-1 2021 Huntington"s disease (HD) is a hereditary neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin (HTT) gene. cytosine-adenine-guanine 92-116 huntingtin Homo sapiens 152-162 34911927-1 2021 Huntington"s disease (HD) is a hereditary neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin (HTT) gene. cytosine-adenine-guanine 92-116 huntingtin Homo sapiens 164-167 23440000-1 2012 BACKGROUND: There is emerging evidence that clinical and neuro-pathological manifestations of Huntington"s disease (HD) may occur in individuals with intermediate length cytosine-adenine-guanine (CAG) repeats (27-35 CAG repeats) in the Huntingtin (HTT) gene. cytosine-adenine-guanine 170-194 huntingtin Homo sapiens 236-246 23440000-1 2012 BACKGROUND: There is emerging evidence that clinical and neuro-pathological manifestations of Huntington"s disease (HD) may occur in individuals with intermediate length cytosine-adenine-guanine (CAG) repeats (27-35 CAG repeats) in the Huntingtin (HTT) gene. cytosine-adenine-guanine 170-194 huntingtin Homo sapiens 248-251 20802793-2 2010 The pathophysiology of Huntington disease is linked to an expanded trinucleotide repeat of cytosine-adenine-guanine (CAG) in the IT-15 gene on chromosome 4. cytosine-adenine-guanine 91-115 huntingtin Homo sapiens 129-134