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Articles by Dror Sharon
Essential Kinase C Zeta in Nonsyndromic Retinitis Pigmentosa
Protein kinase C (PKC) is a family of serine/threonine protein kinases that regulate the function of target proteins through phosphorylation and are therefore involved in multiple cellular processes (eg, signal transduction, cell polarity and proliferation, apoptosis, and cytoskeletal organization), some of which are essential for our development and survival. Kinase C zeta (PKCζ) is an atypical member of this family, which is encoded by PRKCZ.
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity
Abstract Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which affected probands carried rare bi-allelic variants in SCLT1, a gene previously associated with multiple autosomal recessive ciliopathies.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
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Abstract Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders.
By Mathieu Quinodoz, Kim Rodenburg, Karolina Kaminska Verified, Suzanne de Bruijn, Ana Belén Iglesias-Romero, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K Holtes, Stephen Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan Panneman, Rebekkah J. Hitti-Malin, Manir Dan Ali, Sten Andreasson, Gavin Arno, Galuh Astuti, Carmen Ayuso, Eyal Banin, Tahsin Stefan Barakat, Mirella Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David Birch, Pooja Mittal Biswas, Fiona Blanco-Kelly, Béatrice Bocquet, Camiel Boon, Kari Branham, Dominique Brémond-Gignac, Alexis Ceecee Britten-Jones, Kinga M. Bujakowska, Elizabeth L Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Stephen P. Daiger, Elfride De Baere, Marieke De Bruyne, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Beau J. Fenner, Lidia Fernández-Caballero, Simone Gana, Alejandro Garanto, Jessica Gardner Verified, Christian Gilissen, Kensuke Goto, Sam Griffiths-Jones, Tobias B. Haack, Lonneke Haer-Wigman, Alison Hardcastle, Takaaki Hayashi, Elise Heon, Lies H. Hoefsloot, Alexander Hoischen, Carel B. Hoyng, Chris F Inglehearn, Takeshi Iwata, Brynjar O. Jensson, Kaylie Jones, Vasiliki Kalatzis, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne F. Kohl, Taro Kominami, Laura Kühlewein, Tina M. Lamey, Bart P. Leroy, Petra Liskova, Irma Ribbon Lopez, Irma Hernández López, Omar A. Mahroo, M. Pilar Martin-Gutierrez, Nelson Martins, Laura Mauring, Martin McKibbin, Terri L. McLaren, Isabelle Meunier, Michel Michaelides, Jose Millan, Kei Mizobuchi, Rajarshi Mukherjee, Zoltan Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric Pierce, Raj Ramesar, Francis Ramond, Florence Rasquin, Gillian I. Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H. Sabir, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Margherita Scarpato, Dror Sharon, Sabrina Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori Sullivan, Viktória Szabó, Jacek P. Szaflik, Gita Taurina, Carmel Toomes, Viet Tran, Miltiadis Tsilimbaris, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Mattias Van Heetvelde, Andrea L. Vincent, Andrew Webster Verified, Laura Whelan, Bernd Wissinger, Kazutoshi Yoshitake, Juan C Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan Jacob, Siying Lin, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing, Zuzana Cvackova, Erica G. M. Boonen, Ala’a AlTalbishi, Georg Ansari, Radha Ayyagari, Sandro Banfi, Luísa Coutinho-Santos, Berta de la Cerda, John N. De Roach, Juliana M. Ferraz Sallum, Roser Gonzàlez-Duarte, Josephine P. Holtan, Smaragda Kamakari, Krisztina Knézy, Rina Leibu, Quinten Mahieu, Gaël Manes, Luke Mansard, Michiel Oorsprong, Ai Fujita Sajiki, Cristina M. Santos, Hendrik P. N. Scholl, Alberta A. H. J. Thiadens, Pavlina Tsoka, Sophie Valleix, Joseph van Aerschot, L. Ingeborgh van den Born, Virginie J. M. Verhoeven, Georgia G. Yioti, Frans P. M. Cremers
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Nature
Verified
Here’s what I learned about fact-checking elections after embedding with PolitiFact
In an interview to one of Israel’s leading radio stations, the minister for regional cooperation, Tzachi Hanegbi, was asked about Prime Minister Benjamin Netanyahu’s failure to fulfill his 2009 election promise of ending Hamas’ rule in the Gaza Strip. “What was said at the time is irrelevant,” he said. “In the opposition, you talk, but in government, you act.” “So, you’re saying that we shouldn’t take what politicians say before elections too seriously?” the interviewer asked.
Does Mike Braun support the lawsuit to end Obamacare?
Throughout the country, Democratic candidates are singing a common tune, warning that their Republican opponents want to end protections for pre-existing conditions. In Indiana, incumbent Sen. Joe Donnelly recently accused his Republican challenger, Mike Bruan, of supporting the Texas lawsuit that aims to cancel Obamacare. This isn’t the first time Donnelly has made the claim, but this time, Braun had a chance to respond to it.
Did Donald Trump call the Republican health care plan 'mean'?
"President Donald Trump even referred to one of (Kevin) Cramer’s health care repeal bills as 'mean' because the bill gutted protections for North Dakotans with preexisting conditions." As the midterm elections draw closer, Democrats are increasingly focusing their messages on affordable health care. Heidi Heitkamp, the incumbent Senator in North Dakota, has made her Republican opponent’s voting record on this issue one of her main talking-points.
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