Results 331 to 340 of about 496,668 (364)

The TBXT rs2305089 SNP links the benign notochordal cell tumour and chordoma

The Journal of Pathology, EarlyView.
Abstract The aim of this research was to investigate the pathogenesis of the bone cancer chordoma and the role of the germline rs2305089 SNP in TBXT. Using medical imaging and genotyping studies, we observed that benign notochordal cell tumours (BNCTs) were associated with chordomas and with the variant rs2305089 A‐allele with enrichment of the AA ...
Inga Usher, Paul O'Donnell, Lorena Ligammari, Dorothee Harder, Wendy Brown, David Choi, Paul Cool, Lucia Cottone, Adrienne M Flanagan   +8 more
wiley   +1 more source

A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells. [PDF]

PLoS One
Canalis E, Yu J, Schilling L, Jafar-Nejad P, Carrer M.   +4 more
europepmc   +1 more source

Comprehensive functional splicing analysis of non‐canonical CNGB3 variants using in vitro minigene splice assays

The Journal of Pathology, EarlyView.
Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl, Peggy Reuter   +3 more
wiley   +1 more source

Efficient derivation of functional astrocytes from human induced pluripotent stem cells (hiPSCs). [PDF]

PLoS One
Szeky B, Jurakova V, Fouskova E, Feher A, Zana M, Karl VR, Farkas J, Bodi-Jakus M, Zapletalova M, Pandey S, Kucera R, Lochman J, Dinnyes A.   +12 more
europepmc   +1 more source

Targeted correction of megabase-scale <i>CNTN6</i> duplication in induced pluripotent stem cells and impacts on gene expression. [PDF]

PeerJ
Gridina M, Orlova P, Serov O.
europepmc   +1 more source

Transcriptome and epigenome dynamics of the clonal heterogeneity of human induced pluripotent stem cells for cardiac differentiation. [PDF]

Cell Mol Life Sci
Yun J, So J, Jeong S, Jang J, Han S, Jeon J, Lee K, Jang HR, Lee J.   +8 more
europepmc   +1 more source

Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells. [PDF]

BMC Genomics
Trinh J, Schaake S, Gabbert C, Lüth T, Cowley SA, Fienemann A, Ullrich KK, Klein C, Seibler P.   +8 more
europepmc   +1 more source

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome. [PDF]

Congenit Anom (Kyoto)
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H.   +11 more
europepmc   +1 more source

Complete suspension culture of human induced pluripotent stem cells supplemented with suppressors of spontaneous differentiation. [PDF]

Elife
Matsuo-Takasaki M, Kambayashi S, Hemmi Y, Wakabayashi T, Shimizu T, An Y, Ito H, Takeuchi K, Ibuki M, Kawashima T, Masayasu R, Suzuki M, Kawai Y, Umekage M, Kato TM, Noguchi M, Nakade K, Nakamura Y, Nakaishi T, Nishishita N, Tsukahara M, Hayashi Y.   +21 more
europepmc   +1 more source

The novel combination of small-molecule inhibitors increases the survival and colony formation capacity of human induced pluripotent stem cells after single-cell dissociation. [PDF]

Sci Prog
Laowtammathron C, Chingsuwanrote P, Srisook P, Klaihmon P, Meaunpim P, Lorthongpanich C, Kheolamai P, Issaragrisil S.   +7 more
europepmc   +1 more source