Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Autor: Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner

Publikováno v: PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)

PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the cellular level, PIK3C2A is critical for t

Externí odkaz: https://doaj.org/article/53593e35407b4010bb8e4e02f0479df0

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Autor: Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson

Publikováno v: eLife, Vol 4 (2015)

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i

Externí odkaz: https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9

Natural Selection Shapes Codon Usage in the Human Genome

Autor: Brett Copeland, Anthony M. Mustoe, David Goldstein, Ryan S. Dhindsa

Publikováno v: Am J Hum Genet

Synonymous codon usage has been identified as an important determinant of translational efficiency and mRNA stability in model organisms and human cell lines. However, to date, population genetics studies have failed to observe evolutionary constrain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362caa5d4e44a4f77a29a81555798521
https://pubmed.ncbi.nlm.nih.gov/35931054

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Autor: Hester van Meer, Adi Mory, Anlu Chen, Mariam G Aslanyan, David A. Buchner, Volker Haucke, Antonio Bergua, Hagit N. Baris, Joseph G. Gleeson, Marrit M. Hitzert, Dov Tiosano, Christian Thiel, André Reis, Ronald Roepman, Emilio Hirsch, Patrick Rump, Deborah A Sival, Nadine N. Hauer, Karl X. Knaup, Brett Copeland, Josh Kriwinsky, Antje Wiesener, Federico Gulluni, Rolph Pfundt, Markus Schueler, Michael S. Wiesener

Publikováno v: PLoS genetics, 15(4):1008088. PUBLIC LIBRARY SCIENCE
PLoS Genetics
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
Plos Genetics, 15
Plos Genetics, 15, 4

PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the cellular level, PIK3C2A is critical for t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e54ae955c0dc596f39c8afe4bc7e8ccd
https://research.rug.nl/en/publications/e8bcbfcf-80aa-4dff-be70-663326dd7e38

Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance

Autor: Tristan J. Hayeck, Brett Copeland, Nicholas Stong, Andrew S. Allen, Charles J. Wolock, Sitharthan Kamalakaran, David Goldstein

Different parts of a gene can be of differential importance to development and health. This regional heterogeneity is also apparent in the distribution of disease mutations which often cluster in particular regions of disease genes. The ability to pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d84d991ebc45bc96e1a8f58bfdd2eee