Results 171 to 180 of about 40,467 (259)

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

RNA
Jung S, Richter JD.
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

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

Molecular Genetics and Metabolism Reports, 2016
Massimiliano Filosto, Filippo M. Santorelli   +1 more
doaj   +1 more source

Structure-Forming CAG/CTG Repeat Sequences are Sensitive to Breakage in the Absence of Mrc1 Checkpoint Function and S-Phase Checkpoint Signaling: Implications for Trinucleotide Repeat Expansion Diseases [PDF]

, 2004
Catherine H. Freudenreich, Mayurika Lahiri   +1 more
openalex   +1 more source

Msh2-Msh3 DNA-binding is not sufficient to promote trinucleotide repeat expansions inSaccharomyces cerevisiae

K. Casazza, Gregory M. Williams, Lauren Johengen, Gavin Twoey, Jennifer A. Surtees   +4 more
openalex   +1 more source

Msh2-Msh3 Interferes with Okazaki Fragment Processing to Promote Trinucleotide Repeat Expansions

, 2012
Athena Kantartzis, Gregory M. Williams, Lata Balakrishnan, Rick L. Roberts, Jennifer A. Surtees, Robert A. Bambara   +5 more
openalex   +1 more source

Incidence and persistence of 8-oxo-7,8-dihydroguanine within a hairpin intermediate exacerbates a toxic oxidation cycle associated with trinucleotide repeat expansion.

DNA Repair, 2011
Daniel Jarem, Nicole R Wilson, Kelly M. Schermerhorn, S. Delaney   +3 more
semanticscholar   +1 more source

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy

Bushra Alayed, Salina Siddiqui, Seema Anand, Chris F. Inglehearn, Christopher M. Watson, Manir Ali   +5 more
openalex   +1 more source

Double trouble progressive external ophthalmoplegia and Huntington's disease

Molecular Genetics and Metabolism Reports, 2016
Josef Finsterer, Sinda Zarrouk-Mahjoub
doaj   +1 more source

Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR. [PDF]

Invest Ophthalmol Vis Sci
Maeno S, Yamashita A, Oie Y, Koto R, Kai C, Nishida N, Nakamori M, Tsujikawa M, Nishida K.   +8 more
europepmc   +1 more source