Results 71 to 80 of about 25,953 (158)

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT). [PDF]

Int J Mol Sci, 2021
De Luca A, Morella A, Consoli F, Fanelli S, Thibert JR, Statt S, Latham GJ, Squitieri F.   +7 more
europepmc   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine
Background Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease marked by significant clinical and genetic heterogeneity, primarily caused by expanded CAG mutations in the ATXN2 gene.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
doaj   +1 more source

Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington's Disease. [PDF]

Neurosci Bull, 2020
Cheng HR, Li XY, Yu HL, Xu M, Zhang YB, Gan SR, Li HL, Wu ZY.   +7 more
europepmc   +1 more source

Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2021
Li Y, Liu Z, Hou X, Chen Z, Shen L, Xia K, Tang B, Jiang H, Wang J.   +8 more
europepmc   +1 more source

Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts. [PDF]

Nucleic Acids Res, 2020
Xu P, Pan F, Roland C, Sagui C, Weninger K.   +4 more
europepmc   +1 more source

Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT. [PDF]

Brain Sci, 2019
Jot S.
europepmc   +1 more source

Discovery of a mutation-containing circRNA in polyglutamine disease through systematic analysis of RNAs with CAG repeats. [PDF]

RNA Biol
Pawlik W, Woźna-Wysocka M, Jazurek-Ciesiołka M, Dulski J, Witkoś TM, Ciołak A, Kozłowska E, Kościańska E, Bartelt LC, Philippe J, Sławek J, Świtoński PM, La Spada AR, Fiszer A.   +13 more
europepmc   +1 more source

Reduced CAG Repeats in the Androgen Receptor Gene May Independently Cause Polycystic Ovarian Syndrome. [PDF]

Curr Issues Mol Biol
Sharma R, Shain DH.
europepmc   +1 more source

Selective silencing of expanded CAG repeats: Chemically modified siRNA advances RNA-based therapies for polyglutamine diseases. [PDF]

Mol Ther Nucleic Acids
Scholten GJ, Hyde JT, Buijsen RAM.
europepmc   +1 more source

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis. [PDF]

Acta Neuropathol Commun
Lauerer M, Faber J, Casadei N, Santana MM, Auburger G, Pogoda M, Admard J, Kaupp L, Kos PL, Raposo M, Lima M, de Almeida LP, Garcia-Moreno H, Giunti P, de Vries J, van de Warrenburg BP, van Gaalen J, Grobe-Einsler M, Koyak B, Reetz K, Erdlenbruch F, Jacobi H, Infante J, Hengel H, Schöls L, Klockgether T, Rieß O, Hübener-Schmid J, ESMI study group.   +28 more
europepmc   +1 more source