Results 41 to 50 of about 25,953 (158)

CRISPR/Cas9-induced double-strand breaks in the huntingtin locus lead to CAG repeat contraction through DNA end resection and homology-mediated repair

BMC Biology
Background The expansion of CAG/CTG repeats in functionally unrelated genes is a causative factor in many inherited neurodegenerative disorders, including Huntington’s disease (HD), spinocerebellar ataxias (SCAs), and myotonic dystrophy type 1 (DM1 ...
Pawel Sledzinski, Mateusz Nowaczyk, Marianna Iga Smielowska, Marta Olejniczak   +3 more
doaj   +1 more source

Molecular Interpretation of Expanded RED Products in Bipolar Disorder by CAG/CTG Repeats Located at Chromosomes 17q and 18q

Neurobiology of Disease, 1999
Previously we provided evidence that the anticipation observed in bipolar (BP) disorder may be explained by expanded CAG/CTG triplet repeats. Data were generated with the repeat expansion detection (RED) method in a BP case–control sample showing a ...
Geert R. Verheyen, Jurgen Del-Favero, Julien Mendlewicz, Kerstin Lindblad, Karel Van Zand, Mireille Aalbregtse, Martin Schalling, Daniel Souery, Christine Van Broeckhoven   +8 more
doaj   +1 more source

Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study

International Journal of Reproductive BioMedicine, 2022
Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which affects about 15-20% of women of reproductive age. The most important etiopathogenesis factor in its incidence is hyperandrogenism; over 70 candidate genes are known to be ...
Hamideh Arasteh, Fatemeh Araste, Mohammad Hasan Sheikhha, Ph.D., Seyyed Mehdi Kalantar, Ehsan Farashahi Yazd, Hamid Reza Ashrafzadeh, Nasrin Ghasemi   +7 more
doaj   +1 more source

Computational Investigation of Bending Properties of RNA AUUCU, CCUG, CAG, and CUG Repeat Expansions Associated With Neuromuscular Disorders

Frontiers in Molecular Biosciences, 2022
Expansions of RNA AUUCU, CCUG, CAG, and CUG repeats cause spinocerebellar ataxia type 10, myotonic dystrophy type 2, Huntington’s disease, and myotonic dystrophy type 1, respectively. By performing extensive molecular dynamic simulations, we investigated
Amirhossein Taghavi, Amirhossein Taghavi, Ilyas Yildirim, Ilyas Yildirim   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Stem Cell Research, 2018
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats.
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi   +11 more
doaj   +1 more source

CAG Expansion in Androgen Receptor Gene of Infertile Men in Erbil Governorate

Kurdistan Journal of Applied Research, 2023
Spermatogenesis and male phenotypic development during puberty are mainly done by androgen and their function is regulated by the androgen receptor (AR) gene.
Dashne Abdulla Salih, Karim Jalal Karim
doaj   +1 more source

Intermediate CAG Repeats in Huntington’s Disease: Analysis of COHORT

Tremor and Other Hyperkinetic Movements, 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.
Ha, Ainhi D., Beck, Christopher A., Jankovic, Joseph   +2 more
openaire   +5 more sources

Deletion errors generated during replication of CAG repeats [PDF]

Nucleic Acids Research, 1999
Triplet repeat sequence instability is associated with hereditary neurological diseases and with certain types of cancer. Here we study one form of this instability, deletion of triplet repeats during replication of template (CAG)(n)sequences by DNA polymerases.
L C, Kroutil, T A, Kunkel
openaire   +2 more sources

CAG repeat polymorphism in androgen receptor and infertility: A case-control study

International Journal of Reproductive BioMedicine, 2021
Background: Androgens play a role in the development of male phenotype and spermatogenesis during puberty, the function of which is regulated by the androgen receptor (AR) gene.
Shiva Sharestani, Seyed Mehdi Kalantar, Nasrin Ghasemi, Ehsan Farashahi Yazd   +3 more
doaj   +1 more source

Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease

eLife
An expanded CAG repeat in the huntingtin gene (HTT) causes Huntington’s disease (HD). Since the length of uninterrupted CAG repeat, not polyglutamine, determines the age-at-onset in HD, base editing strategies to convert CAG to CAA are anticipated to ...
Doo Eun Choi, Jun Wan Shin, Sophia Zeng, Eun Pyo Hong, Jae-Hyun Jang, Jacob M Loupe, Vanessa C Wheeler, Hannah E Stutzman, Ben Kleinstiver, Jong-Min Lee   +9 more
doaj   +1 more source