Results 171 to 180 of about 27,643 (268)

Rett syndrome-causing mutations compromise MeCP2-mediated liquid–liquid phase separation of chromatin

Cell Research, 2020
Liang Wang, Mingli Hu, M. Zuo, Ji-Cheng Zhao, Di Wu, Li Huang, Yong-Xin Wen, Yunfan Li, Ping-Yen Chen, X. Bao, M. Dong, Guo-Hong Li, Pi-Long Li   +12 more
semanticscholar   +1 more source

The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation. [PDF]

BMC Pediatr
Doğan Ç, Mutlu MB, Cansu A, Habiloğlu E, Öztürk M, Gümüş U, Gürler Aİ, Şahinoğlu B, Kale H, Alay MT, Sezer A, Kalaycı A, Güleç EY, Emre S, Polat H, Yiğit ZM, Bolat H, Esener Z, Akdağ DG, Bolat GÜ, Türkyılmaz A, Ayaz A, Kolkıran A, Ceylan AC, Solmaz T, Bahap Y, Cinkara N, Oğuz S, Uzay E, Güneş Sager S, Çebi AH, Demir O, Susam E, Kalay İ.   +33 more
europepmc   +1 more source

Release factor 3 degradation enhances aminoglycoside-mediated translational readthrough at MECP2 nonsense mutations. [PDF]

J Mol Med (Berl)
Lebeda D, Smoljanow D, Hofhuis J, Thoms S.   +3 more
europepmc   +1 more source

Carotid body dysfunction contributes to respiratory instability in Rett syndrome. [PDF]

Curr Biol
Strain ML, da Silva EN, Olsen ML, Mulkey DK.   +3 more
europepmc   +1 more source

MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome. [PDF]

Nucleic Acids Res
Peter JA, Weiser TA, Niswander LA, Batey RT, Wuttke DS.   +4 more
europepmc   +1 more source

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome. [PDF]

Mol Genet Genomic Med
Klintenstedt J, Baeck P, Engerström IW, Gunnarsson C.   +3 more
europepmc   +1 more source

SNCA-targeted transcriptional repression therapy alleviates pathological and behavioral perturbations in a Parkinson's disease mouse model. [PDF]

Neurotherapeutics
O'Donovan B, Rittiner J, Upadhya S, Hodgson D, Kantor B, Chiba-Falek O.   +5 more
europepmc   +1 more source

MeCP2 Dosage Control in Rett Syndrome: Non-Coding RNA-Based and Epigenetic Strategies for Safer Gene Therapy. [PDF]

Noncoding RNA
Kabdesh IM, Rizvanov AA, Mukhamedshina YO.   +2 more
europepmc   +1 more source

Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2. [PDF]

Elife
Guy J, Hein E, Alexander-Howden B, von Bock Und Polach T, Mathieson T, Kleinstiver BP, Zoghbi HY, Bird A.   +7 more
europepmc   +1 more source

Pubertal development is unaffected in female <i>Mecp2</i> -heterozygous mice. [PDF]

MicroPubl Biol
Fortich S, Demilio L, Ceesay M, Clower A, Lau BYB.   +4 more
europepmc   +1 more source