Litcius/Paper detail

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold, Sebastián Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Débora Braslavsky, Ana Keselman, Ignacio Bergadá, Marcelo A. Martí, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B. Mendonça, Sajini Jayakody, Ayse Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, María Inés Pérez‐Millán, Ivo J.P. Arnhold, Roland Pfaeffle, Jacob O. Kitzman, Sally A. Camper

2021The American Journal of Human Genetics58 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationRNA splicingAlternative splicingBiologyGene isoformspliceGeneticsHypopituitarismIntronRepressorGeneMutationRNATranscription factorEndocrinologyRNA modifications and cancerRNA Research and SplicingCancer-related molecular mechanisms research