Results 201 to 210 of about 82,738 (226)

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism. [PDF]

Am J Hum Genet
Mejia Maza A, Hincher M, Correia K, Gillis T, Nishiyama A, Penney EB, Domingo A, Yadav R, Murcar MG, Villafria Mercado PD, Han JS, Norenberg EP, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz EL, Ang MC, Diesta CCE, Go C, Sharma N, Bragg DC, Talkowski ME, MacDonald ME, Lee JM, Ozelius LJ, Wheeler VC.   +25 more
europepmc   +1 more source

Cuproptosis and Mitophagy Mediated by the THUMPD1/IGF2R‐Dependent Suppression of AKT and Activation of AMPK Signaling Suppress Lung Adenocarcinoma Progression

Advanced Science, EarlyView.
THUMPD1 drives a tumor‐suppressive signaling cascade in lung adenocarcinoma by promoting IGF2R expression. IGF2R associates with PPP2R1A to suppress AKT and activate AMPK, leading to SLC31A1 upregulation and copper accumulation. Elevated copper disrupts mitochondrial metabolism and induces excessive mitophagy, thereby restraining tumor growth and ...
Kai Wu, Bo Qin, Zhuoyu Gu, Weizheng Ding, Xiaoming Chen, Kaishang Zhang, Yujin Qiao, Shuang Yuan, Song Zhao, Xiangnan Li, Peng Zhang   +10 more
wiley   +1 more source

Direct targeting of C9ORF72 repeat RNA with fluorinated antisense oligonucleotides. [PDF]

Nucleic Acids Res
Barber HM, Parasrampuria MA, Jurado-Arjona J, Gamir-Morralla A, Berninger B, González C, Gagnon KT, Damha MJ, Garavís M.   +8 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion. [PDF]

Int J Mol Sci
Asherah N, Lian M, Tan AS, Taguchi R, Chua P, Liu S, Lee CG, Chong SS.   +7 more
europepmc   +1 more source

Repeat-associated heterochromatin expansion in Acyclania tenebrosa, a noctuid with one of the largest lepidopteran genomes. [PDF]

BMC Genomics
Gasparotto AE, Ferretti ABS, Alves-Gomes RT, Soares FA, Orsetti A, Clarindo WR, Cabral-de-Mello DC.   +6 more
europepmc   +1 more source

Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples. [PDF]

Am J Hum Genet
Devaney JM, Chong JX, Lopes PC, Noya J, Berlyoung AS, Yusuff S, Lynch S, Brandon R, Hruska KS, Lochovsky L, Spangler J, McWalter K, Nykamp K, Poll SR, Stergachis AB, Greally J, Kruszka P, Dolzhenko E, Chen X, Robertson AV, Rowell WJ, Lake JA, Carroll A, Kueffner R, Eberle MA, Facio FM, Bamshad MJ, Johnson B.   +27 more
europepmc   +1 more source

Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary. [PDF]

Mol Med
Nagy ZF, Géresi A, Grosz Z, Trombitás B, Pál M, Nagy D, Salamon A, Balicza P, Dézsi L, Klivényi P, Széll M, Molnár MJ.   +11 more
europepmc   +1 more source

Correction to 'DNA extrusion size determines pathway choice during CAG repeat expansion'. [PDF]

Nucleic Acids Res
europepmc   +1 more source

Introns as Protective Buffers Against Transposable Elements Invasion During Genome Gigantism in a Newt. [PDF]

Genes Cells
Bou K, Agata K.
europepmc   +1 more source