Results 121 to 130 of about 4,429 (159)

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification. [PDF]

BMC Genomics
Samitova A, Belova V, Vasiliadis I, Repinskaia Z, Gorodnicheva T, Romanov E, Pogosyan M, Gaysin E, Nazarenko T, Rebrikov D, Korostin D.   +10 more
europepmc   +1 more source

Whole-organism screening in a zebrafish model of CLN2 disease identifies pregnenolone as a modulator of lysosomal functions with anti-epileptic properties

Kiani LN, Civiletto G, Lizzo G, Zdebik A, Brickell G, Mahmood F, Nalkos DD, Michaelides L, Eldridge P, Young EM, McPherson H, Campanella M, Gut P, Russell C.   +13 more
europepmc   +1 more source

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy. [PDF]

Front Genet
Bryzik A, Larysz D, Larysz P, Karpierz JI, Paprocka J.   +4 more
europepmc   +1 more source

Comprehensive analysis of single-cell and bulk RNA sequencing data unveils antigen-presenting and processing fibroblasts and establishes a predictive model in gastric cancer. [PDF]

Cancer Cell Int
Zhang C, Chen F, Li J, He Y, Sun J, Zheng Z, Liu G, Wang Y, Kang W, Ye X.   +9 more
europepmc   +1 more source

Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. [PDF]

Childs Nerv Syst
Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J.   +8 more
europepmc   +1 more source

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models. [PDF]

Sci Transl Med
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD.   +21 more
europepmc   +1 more source

C1Q⁺ TPP1⁺ macrophages promote colon cancer progression through SETD8-driven p53 methylation. [PDF]

Mol Cancer
Veschi V, Verona F, Di Bella S, Turdo A, Gaggianesi M, Di Franco S, Mangiapane LR, Modica C, Lo Iacono M, Bianca P, Brancato OR, D'Accardo C, Porcelli G, Lentini VL, Sperduti I, Sciacca E, Fitzgerald P, Lopez-Perez D, Martine P, Brown K, Giannini G, Appella E, Stassi G, Todaro M.   +23 more
europepmc   +1 more source

Natural variation of indels in the CTB3 promoter confers cold tolerance in japonica rice. [PDF]

Nat Commun
Li J, Guo H, Lou Q, Zeng Y, Guo Z, Xu P, Gu Y, Gao S, Xu B, Han S, Su R, Zou A, Ye W, Zhang M, Li Y, Sun X, Zhang Z, Zhang H, Ma W, Chen C, Li Z, Li J.   +21 more
europepmc   +1 more source

Therapeutic 6-thio-deoxyguanosine inhibits telomere elongation in cancer cells by inducing a non-productive stalled telomerase complex. [PDF]

Nat Commun
Sanford SL, Badstübner M, Gerber M, Mannherz W, Lampl N, Dannenberg R, Hinchie A, Schaich MA, Myong S, Hedglin M, Agarwal S, Alder JK, Stone MD, Opresko PL.   +13 more
europepmc   +1 more source

<i>In silico</i> and <i>in vitro</i> mutational analysis to investigate the structure and pathogenicity of <i>POT1</i> missense variants. [PDF]

NAR Mol Med
Nguyen T, Bora N, Ye J, Chong ST, Sutopo RC, Mu Y, Ngeow J.   +6 more
europepmc   +1 more source