Stochastic phenotypes in RAS-dependent developmental diseases.

Autor: Marmion RA; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA. Electronic address: rmarmion@princeton.edu., Simpkins AG; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA. Electronic address: as8545@princeton.edu., Barrett LA; Department of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544, USA. Electronic address: lbarrett@princeton.edu., Denberg DW; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA. Electronic address: ddenberg@princeton.edu., Zusman S; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA. Electronic address: zusman@princeton.edu., Schottenfeld-Roames J; Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. Electronic address: jschotte@princeton.edu., Schüpbach T; Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. Electronic address: schupbac@princeton.edu., Shvartsman SY; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA; Department of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544, USA; Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA; Flatiron Institute, Simons Foundation, New York, NY 10010, USA. Electronic address: stas@princeton.edu.

Publikováno v: Current biology : CB [Curr Biol] 2023 Mar 13; Vol. 33 (5), pp. 807-816.e4. Date of Electronic Publication: 2023 Jan 26.

The RASopathies : Genetic Syndromes of the RAS/MAPK Pathway

Autor: Katherine A. Rauen

This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noon