Repetitive DNA sequence detection and its role in the human genome

X Liao, W Zhu, J Zhou, H Li, X Xu, B Zhang… - Communications …, 2023 - nature.com
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, and …

Transposable elements and human diseases: mechanisms and implication in the response to environmental pollutants

B Chénais - International journal of molecular sciences, 2022 - mdpi.com
Transposable elements (TEs) are recognized as major players in genome plasticity and
evolution. The high abundance of TEs in the human genome, especially the Alu and Long …

[HTML][HTML] Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

KT Tshilenge, J Bons, CG Aguirre… - Neurobiology of …, 2024 - Elsevier
X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the
Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type …

X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment

HL Chin, CY Lin, OHI Chou - Acta Neurologica Belgica, 2023 - Springer
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement
disorder that only affects Filipino descent, predominantly males. Its underlying cause is …

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

J Pozojevic, SM Algodon, JN Cruz, J Trinh… - International Journal of …, 2022 - mdpi.com
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that
manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) …

Expression quantitative trait loci (eQTLs) associated with retrotransposons demonstrate their modulatory effect on the transcriptome

S Koks, AL Pfaff, VJ Bubb, JP Quinn - International Journal of Molecular …, 2021 - mdpi.com
Transposable elements (TEs) are repetitive elements that belong to a variety of functional
classes and have an important role in shaping genome evolution. Around 50% of the human …

[HTML][HTML] Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis

AL Savage, A Iacoangeli, GG Schumann… - Gene, 2022 - Elsevier
The genetics of an individual is a crucial factor in understanding the risk of developing the
neurodegenerative disease amyotrophic lateral sclerosis (ALS). There is still a large …

X-linked dystonia-parkinsonism: over and above a repeat disorder

J Pozojevic, JN Cruz, A Westenberger - Medizinische Genetik, 2022 - degruyter.com
X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement
disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This …

SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism

S Aryal, S Chen, KF Burbach, Y Yang… - Research …, 2024 - ncbi.nlm.nih.gov
Background X-linked Dystonia-Parkinsonism (XDP) is an adult-onset neurodegenerative
disorder that results in the loss of striatal medium spiny neurons (MSNs). XDP is associated …

Identification of genetic risk factors for Parkinson's disease

A Illarionova - 2023 - ub01.uni-tuebingen.de
Parkinson's disease (PD) is a common progressive neurodegenerative disorder with a
complex and heterogeneous genetic landscape. Approximately 90% of all PD cases are …