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   Articles with "htt gene" as a keyword



The HTT gene influences plasma neurofilament light chain and brain metabolism in prodromal Alzheimer’s disease

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recommendations! Published in 2025 at "Journal of Neurology"

DOI: 10.1007/s00415-025-13312-9

Abstract: HTT, encoding a protein involved in axonal trafficking, contains a key region of CAG repeats. When expanded beyond 39 repeats, this region leads to Huntington’s disease (HD). However, several studies have suggested that increasing the… read more here.

Keywords: alzheimer disease; htt; prodromal alzheimer; htt gene ... See more keywords

Regulation of Genome Architecture in Huntington’s Disease

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recommendations! Published in 2025 at "Biochemistry"

DOI: 10.1021/acs.biochem.5c00029

Abstract: Huntington’s disease (HD) is a neurological condition caused by an excessive expansion of CAG repeats in the Huntingtin (HTT) gene. Although experiments have shown an altered epigenetic landscape and chromatin architecture upon HD development, the… read more here.

Keywords: gene; huntington disease; htt gene; macroh2a1 ... See more keywords

Sudden infant death syndrome revisited: serotonin transporter gene, polymorphisms and promoter methylation

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recommendations! Published in 2021 at "Pediatric Research"

DOI: 10.1038/s41390-021-01773-3

Abstract: Based on findings in the brain stems of SIDS victims, the serotonin transporter (5-HTT) gene has been discussed to be associated with SIDS. In the largest study to date, we investigated the promoter length (5-HTTLPR)… read more here.

Keywords: htt gene; methylation; etiology; gene polymorphisms ... See more keywords

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

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recommendations! Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac224

Abstract: Abstract We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene… read more here.

Keywords: huntington disease; diversity; htt gene; germline expansion ... See more keywords

Computational Analysis of Transcriptional Regulation Sites at the HTT Gene Locus.

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recommendations! Published in 2018 at "Journal of Huntington's disease"

DOI: 10.3233/jhd-170272

Abstract: BACKGROUND Huntington's disease is a late onset neurological disorder caused by a trinucleotide CAG repeat expansion mutation in the HTT gene encoding for the protein huntingtin. Despite considerable ongoing research, the wild-type function of huntingtin… read more here.

Keywords: htt gene; protein interactions; analysis; protein protein ... See more keywords

Serotonin Transporter (5-HTT) Gene Polymorphisms and Susceptibility to Chronic Periodontitis: A Case-Control Study

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recommendations! Published in 2019 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2019.00706

Abstract: Objective: The current study is aimed at exploring the relationship between chronic periodontitis and serotonin transporter (5-HTT) gene polymorphisms (rs6354 and rs12449783) in the Chinese Han population. Methods: This study included a total of 120… read more here.

Keywords: htt gene; gene; chronic periodontitis; control ... See more keywords