Results 31 to 40 of about 8,647 (121)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Engineering and Characterization of a Fluorescent Fission Yeast Arp2/3 Complex for Single Molecule Mechanistic Investigations

Cytoskeleton, EarlyView.
ABSTRACT Arp2/3 complex is a seven‐component protein complex that facilitates the assembly of branched actin filament networks by binding to pre‐existing “mother” actin filaments and initiating the nucleation of new branched “daughter” filaments. Arp2/3 complex must be activated by a nucleation promoting factor such as the WASP/Scar protein family. The
Caitlin A. Anderson, Meghan E. O'Connell, Kaitlin E. Homa, Cristian Suarez, Michael L. James, Kashmeera D. Baboolall, Vilmos Zsolnay, Vladimir Sirotkin, David R. Kovar   +8 more
wiley   +1 more source

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis

Cell Reports, 2019
Summary: The tumor suppressor BRCA2 is essential for homologous recombination (HR), replication fork stability, and DNA interstrand crosslink repair in vertebrates.
Inger Brandsma, Koichi Sato, Sari E. van Rossum-Fikkert, Nicole van Vliet, Esther Sleddens, Marcel Reuter, Hanny Odijk, Nathalie van den Tempel, Dick H.W. Dekkers, Karel Bezstarosti, Jeroen A.A. Demmers, Alex Maas, Joyce Lebbink, Claire Wyman, Jeroen Essers, Dik C. van Gent, Willy M. Baarends, Puck Knipscheer, Roland Kanaar, Alex N. Zelensky   +19 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Identification of whole-cell dsRNA-binding proteins by phase separation

RNA Biology
Interactions between double-stranded RNA (dsRNA) and proteins play an important role in cellular homeostasis by regulating the editing, stability, and splicing of intracellular RNA.
Zhixiang Yang, Junwei Zhou, Zhuang Li, Jiahui Guo, Liurong Fang, Xun Xiao, Shaobo Xiao   +6 more
doaj   +1 more source

Hsp70 diversification and repurposing across the tree of life: Lessons from the evolutionary and mechanistic trajectory of the Hsp70–Hsp110 chaperone system

The FEBS Journal, EarlyView.
Evolutionary and mechanistic divergence in the Hsp70–Hsp110 chaperone system. Prokaryotic Hsp70s probably diversified into multiple orthologues that cooperated with co‐chaperones such as JDPs and NEF, forming increasingly complex proteostasis networks.
Pierre Goloubinoff, Paolo De Los Rios, Mathieu E. Rebeaud   +2 more
wiley   +1 more source

Wnt/Wingless signaling through β-catenin requires the function of both LRP/Arrow and frizzled classes of receptors

BMC Cell Biology, 2003
Background Wnt/Wingless (Wg) signals are transduced by seven-transmembrane Frizzleds (Fzs) and the single-transmembrane LDL-receptor-related proteins 5 or 6 (LRP5/6) or Arrow. The aminotermini of LRP and Fz were reported to associate only in the presence
Varmus Harold, Schweizer Liang
doaj   +1 more source

Rice EMF3 Alleles Adjust Flower Opening Time to Enhance the Seed Setting Rate Under High Temperature Stress

Plant Biotechnology Journal, EarlyView.
ABSTRACT To safeguard global food security against rapid population growth and a warming world, the effective genetic improvement of cereals is imperative. Flower opening time (FOT) critically affects the seed setting rate. In this study, we identified a gene, EARLY‐MORNING FLOWERING 3 (EMF3), in which single‐nucleotide substitutions strongly modulate ...
Takuma Ishizaki, Yoichi Hashida, Hideyuki Hirabayashi, Kazuhiro Sasaki, Hiroki Tokunaga, Eliza Vie M. Simon‐Ada, Masataka Wakayama, Toshiyuki Takai, Hiroki Saito, Atsushi J. Nagano, Hitoshi Sakakibara, Mikiko Kojima, Yumiko Takebayashi, Sung‐Ryul Kim, Ryo Matsushima, Michael J. Thomson, Kazuhiko Sugimoto, Ken‐Ichiro Hibara, Tsutomu Ishimaru   +18 more
wiley   +1 more source

Plakophilin-1, a Novel Wnt Signaling Regulator, Is Critical for Tooth Development and Ameloblast Differentiation.

PLoS ONE, 2016
Tooth morphogenesis is initiated by reciprocal interactions between the ectoderm and neural crest-derived mesenchyme, and the Wnt signaling pathway is involved in this process.
Kanako Miyazaki, Keigo Yoshizaki, Chieko Arai, Aya Yamada, Kan Saito, Masaki Ishikawa, Han Xue, Keita Funada, Naoto Haruyama, Yoshihiko Yamada, Satoshi Fukumoto, Ichiro Takahashi   +11 more
doaj   +1 more source