Human Genetics of Defects of Situs.
Perrot A, Rickert-Sperling S.
Adv Exp Med Biol. 2024;1441:705-717. doi: 10.1007/978-3-031-44087-8_42.
Congenital heart defects caused by FOXJ1.
Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM.
Hum Mol Genet. 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065.
An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field.
Vasquez SSV, van Dam J, Wheway G.
Mol Biol Cell. 2021 Dec 1;32(22):br13. doi: 10.1091/mbc.E21-05-0226. Epub 2021 Oct 6.
Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.
Liu Y, Rittershaus JM, Yu M, Sager R, Hu H.
Int J Mol Sci. 2022 Nov 26;23(23):14809. doi: 10.3390/ijms232314809.
Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.
Subramanian B, Anand M, Khan NW, Khanna H.
Invest Ophthalmol Vis Sci. 2014 Aug 14;55(9):5788-94. doi: 10.1167/iovs.14-14954.
Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation.
Wang H, Zaiser F, Eckert P, Ruf J, Kayser N, Veenstra AC, Müller M, Haas R, Walz G, Yakulov TA.
Biochem Biophys Res Commun. 2023 Sep 17;673:9-15. doi: 10.1016/j.bbrc.2023.06.058. Epub 2023 Jun 19.
Immunohistochemical and ultrastructural features of congenital melanocytic naevus cells support a stem-cell phenotype.
Kinsler VA, Anderson G, Latimer B, Natarajan D, Healy E, Moore GE, Sebire NJ.
Br J Dermatol. 2013 Aug;169(2):374-83. doi: 10.1111/bjd.12323.
A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development.
Kong JH, Young CB, Pusapati GV, Patel CB, Ho S, Krishnan A, Lin JI, Devine W, Moreau de Bellaing A, Athni TS, Aravind L, Gunn TM, Lo CW, Rohatgi R.
Dev Cell. 2020 Nov 23;55(4):432-449.e12. doi: 10.1016/j.devcel.2020.08.012. Epub 2020 Sep 22.
The graded response to Sonic Hedgehog depends on cilia architecture.
Caspary T, Larkins CE, Anderson KV.
Dev Cell. 2007 May;12(5):767-78. doi: 10.1016/j.devcel.2007.03.004.
A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.
Burns TA, Deepe RN, Bullard J, Phelps AL, Toomer KA, Hiriart E, Norris RA, Haycraft CJ, Wessels A.
Anat Rec (Hoboken). 2019 Jan;302(1):136-145. doi: 10.1002/ar.23909. Epub 2018 Oct 5.
