Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Tim Schedl"'
Autor:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
Autor:
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Publikováno v:
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
BackgroundKinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo
Externí odkaz:
https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06
Autor:
Theadora Tolkin, Ariz Mohammad, Todd A Starich, Ken CQ Nguyen, David H Hall, Tim Schedl, E Jane Albert Hubbard, David Greenstein
Publikováno v:
eLife, Vol 11 (2022)
Gap-junctional signaling mediates myriad cellular interactions in metazoans. Yet, how gap junctions control the positioning of cells in organs is not well understood. Innexins compose gap junctions in invertebrates and affect organ architecture. Here
Externí odkaz:
https://doaj.org/article/e4b672b70b254265898eb86f356a00d5
Autor:
Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Undiagnosed Diseases Network, Tim Schedl, Stephen C. Pak, John H. Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J. Bellen, Monte Westerfield
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
Abstract Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challen
Externí odkaz:
https://doaj.org/article/3cf7c8a199e043afb6902650fd8e1882
Autor:
Jian Chen, Ariz Mohammad, Nanette Pazdernik, Huiyan Huang, Beth Bowman, Eric Tycksen, Tim Schedl
Publikováno v:
PLoS Genetics, Vol 16, Iss 3, p e1008650 (2020)
Stem cell systems are essential for the development and maintenance of polarized tissues. Intercellular signaling pathways control stem cell systems, where niche cells signal stem cells to maintain the stem cell fate/self-renewal and inhibit differen
Externí odkaz:
https://doaj.org/article/691376adb1f149138a0894aace3e0350
Autor:
Christina M Taylor, Qi Wang, Bruce A Rosa, Stanley Ching-Cheng Huang, Kerrie Powell, Tim Schedl, Edward J Pearce, Sahar Abubucker, Makedonka Mitreva
Publikováno v:
PLoS Pathogens, Vol 9, Iss 8, p e1003505 (2013)
Parasitic roundworm infections plague more than 2 billion people (1/3 of humanity) and cause drastic losses in crops and livestock. New anthelmintic drugs are urgently needed as new drug resistance and environmental concerns arise. A "chokepoint reac
Externí odkaz:
https://doaj.org/article/61c3a87be2d743d6ac983aea267d0b1e
Autor:
Kerri M Luzzo, Qiang Wang, Scott H Purcell, Maggie Chi, Patricia T Jimenez, Natalia Grindler, Tim Schedl, Kelle H Moley
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e49217 (2012)
Maternal obesity is associated with poor outcomes across the reproductive spectrum including infertility, increased time to pregnancy, early pregnancy loss, fetal loss, congenital abnormalities and neonatal conditions. Furthermore, the proportion of
Externí odkaz:
https://doaj.org/article/52019b2ddc2848658d133f667751ad4c
Autor:
Qiang Wang, Antonina I Frolova, Scott Purcell, Katie Adastra, Erica Schoeller, Maggie M Chi, Tim Schedl, Kelle H Moley
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15901 (2010)
Impaired oocyte quality has been demonstrated in diabetic mice; however, the potential pathways by which maternal diabetes exerts its effects on the oocyte are poorly understood. Cumulus cells are in direct contact with the oocyte via gap junctions a
Externí odkaz:
https://doaj.org/article/6ab36ce7cbc446398a0d9de37d5d6e0b
Publikováno v:
PLoS Biology, Vol 3, Iss 1, p e6 (2005)
Somatic and germline sex determination pathways have diverged significantly in animals, making comparisons between taxa difficult. To overcome this difficulty, we compared the genes in the germline sex determination pathways of Caenorhabditis elegans
Externí odkaz:
https://doaj.org/article/d5de08b8fbc846df8d62652fdf955e85
Autor:
Sara M. Fielder, Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema Lalani, Ruben Attali, Joshua N. Bembenek, Hieu Hoang, Dustin Baldridge, Gary A. Silverman, Tim Schedl, Stephen C. Pak
Publikováno v:
Mol Genet Metab
We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein phosphatase gene, PPP5C. This gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5d7fdbb1ad9d65f3179720a07aad2b
https://doi.org/10.1016/j.ymgme.2022.03.007
https://doi.org/10.1016/j.ymgme.2022.03.007