Results 141 to 150 of about 246,437 (319)

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

RNA‐Based Biopesticides: Pioneering Precision Solutions for Sustainable Aquaculture in China

Animal Research and One Health, EarlyView.
The Chinese dragon represents RNA biopesticides, which effectively counteract bacterial, viral, and parasitic threats, safeguarding aquatic life. This method is precise, focusing solely on harmful agents and sparing beneficial aquaculture species. Its innovative nature protects aquatic environments while reducing ecological footprint.
Yiran Huang, Yingmin Dai, Zhuotong Huang, Mengqi Zhang, Lijun Xiu, Xianhui Zhang, Youyu Zhang, Lixing Huang   +7 more
wiley   +1 more source

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source

Systemic circulating microRNA landscape in Lynch syndrome

International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023
What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen, Tia‐Marje Korhonen, Tiina Jokela, Maarit Ahtiainen, Laura Lahtinen, Teijo Kuopio, Anna Lepistö, Elina Sillanpää, Jukka‐Pekka Mecklin, Toni T. Seppälä, Eija K. Laakkonen   +10 more
wiley   +1 more source

Dynamic Plasma Membrane Topography Linked With Arp2/3 Actin Network Induction During Cell Shape Change

BioEssays, EarlyView.
Cell shape changes underlie animal development, physiology, and disease. The cell surface is mechanosensitive to the microenvironment and cytoskeleton activities, which generate plasma membrane topographies recognized and affected by Arp2/3 actin network induction pathways to remodel cell shape during immune cell migration, neural progenitor cell ...
Tony J. C. Harris
wiley   +1 more source

Multiphasic interactions between nucleotides and target proteins [PDF]

arXiv, 2016
The nucleotides guanosine tetraphosphate (ppGpp) and guanosine pentaphosphate (pppGpp) bind to target proteins to promote bacterial survival (Corrigan et al. 2016). Thus, the binding of the nucleotides to RsgA, a GTPase, inhibits the hydrolysis of GTP.
arxiv  

Dynamic Remodeling of Mechano‐Sensing Complexes in Suspended Fibroblast Cell‐Sheets Under External Mechanical Stimulus

Biotechnology and Bioengineering, EarlyView.
A cell‐sheet prepared from NIH 3T3 cells was sustained by a pair of glass microneedles above a glass‐bottom dish under the spinning disc confocal microscope equipped with a dual‐view system (left). The cell‐sheet was mechanically stretched by moving one of the microneedles away from the other and the locations of proteins related to focal adhesion were
Madoka Suzuki, Keiko Kawauchi, Hiroaki Machiyama, Hiroaki Hirata, Shin'ichi Ishiwata, Hideaki Fujita   +5 more
wiley   +1 more source

Antibiotic interactions at the GTPase-associated centre within Escherichia coli 23S rRNA. [PDF]

, 1989
Jan Egebjerg, Stephen Douthwaite, R.A. Garrett   +2 more
openalex   +1 more source

Studies of the GTPase domain of archaebacterial ribosomes [PDF]

, 1985
Alan A. D. BEAUCLERK, H. Hummel, David Holmes, August Böck, Eric Cundliffe   +4 more
openalex   +1 more source

Inhibition of catalytic unit of adenylate cyclase and activation of GTPase of N_i protein by βγ‐subunits of GTP‐binding proteins [PDF]

, 1986
Keiichi Enomoto, Takeo Asakawa
openalex   +1 more source