Results 91 to 100 of about 10,792 (169)

Expanding the Genetic Landscape of <i>ATXN2</i> Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family. [PDF]

Neurol Genet
Saucier J, Al-Qadi M, Allain EP, Robichaud PP, Chamard-Witkowski L, Alvarez M, Dion-Côté AM, Richard L, Crapoulet N, Ben Amor M.   +9 more
europepmc   +1 more source

Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy. [PDF]

PLoS One, 2019
Soh YQ, Peh Swee Lim G, Htoon HM, Gong X, Mootha VV, Vithana EN, Kocaba V, Mehta JS.   +7 more
europepmc   +1 more source

Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene. [PDF]

Invest Ophthalmol Vis Sci
Oyama Y, Ito S, Yuasa T, Ueda M, Chiba S, Nakagawa T, Izumi A, Ikawa M, Koizumi N, Okumura N.   +9 more
europepmc   +1 more source

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. [PDF]

Cornea, 2019
Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.   +18 more
europepmc   +1 more source

Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches. [PDF]

RNA
Jung S, Richter JD.
europepmc   +1 more source

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Wieben ED, Baratz KH, Aleff RA, Kalari KR, Tang X, Maguire LJ, Patel SV, Fautsch MP.   +7 more
europepmc   +1 more source

Increased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion. [PDF]

Cornea
Xing C, Schultis S, Bondar V, Gong X, Whitson JT, Mootha VV.   +5 more
europepmc   +1 more source

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. [PDF]

Nucleic Acids Res, 2018
Dastidar S, Ardui S, Singh K, Majumdar D, Nair N, Fu Y, Reyon D, Samara E, Gerli MFM, Klein AF, De Schrijver W, Tipanee J, Seneca S, Tulalamba W, Wang H, Chai YC, In't Veld P, Furling D, Tedesco FS, Vermeesch JR, Joung JK, Chuah MK, VandenDriessche T.   +22 more
europepmc   +1 more source

Crosstalk between MSH2-MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair. [PDF]

Nat Commun, 2016
Lai Y, Budworth H, Beaver JM, Chan NL, Zhang Z, McMurray CT, Liu Y.   +6 more
europepmc   +1 more source

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. [PDF]

PLoS One, 2017
Lim GX, Yeo M, Koh YY, Winarni TI, Rajan-Babu IS, Chong SS, Faradz SM, Guan M.   +7 more
europepmc   +1 more source