Results 161 to 170 of about 272,419 (371)

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Foot-and-Mouth Disease Research [PDF]

, 1950

openalex   +1 more source

Wearable Biomonitoring with 2D Carbon‐Based Nanocomposite Hydrogels

Advanced Physics Research, EarlyView.
This review critically examines recent advancements in nanocomposite hydrogels, emphasizing the reinforcement mechanisms offered by 2D carbon‐based nanomaterials and exploring the various applications of these hydrogels. Furthermore, it discusses the current challenges and potential avenues for future development and practical implementation of ...
Ning Li, Xiao Xiao, Yu Li, Ruobing Cheng, Junyi Yin, Hulin Zhang, Jun Chen   +6 more
wiley   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt   +17 more
wiley   +1 more source

Hand, Foot, and Mouth Disease [PDF]

BMJ, 1963
K D, CROW, R, WARIN, D S, WILKINSON
openaire   +5 more sources

Foot-and-mouth disease: The question of invasion [PDF]

, 1920
Stewart Stockman
openalex   +1 more source

A SPATIAL MODEL OF ANIMAL DISEASE CONTROL IN LIVESTOCK: EMPIRICAL ANALYSIS OF FOOT AND MOUTH DISEASE IN THE SOUTHERN CONE [PDF]

This paper presents a multi-market model of animal disease control that extends the current literature by accounting for spatial and inter-temporal relations in both epidemiological and economic variables.
Rich, Karl M., Winter-Nelson, Alex
core   +1 more source

The history of anatomical engagement

Anatomical Sciences Education, EarlyView.
Abstract The public's fascination with anatomy has evolved over time and progressed from avoidance of the tainted yet saintly corpse, to their fascination with cabinets of curiosities. The current narrative review explores public engagement (PE), from its potential origins as cave paintings, to the rise of the disciplinarity of anatomy.
Quenton Wessels, Adam M. Taylor
wiley   +1 more source

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

Establishment of the Foot-and-Mouth Disease Virus Type Asia1 Expressing the HiBiT Protein: A Useful Tool for a NanoBiT Split Luciferase Assay

Viruses
Foot-and-mouth disease virus (FMDV) is a highly contagious virus that affects cloven-hoofed animals and causes severe economic losses in the livestock industry.
Giyoun Cho, Hyejin Kim, Dong-Wan Kim, Seong Yun Hwang, Ji-Hyeon Hwang, Yeon Rae Chae, Yoon-Hee Lee, Ok-Mi Jeong, Jung-Won Park, Sung-Han Park, Jong-Hyeon Park   +10 more
doaj   +1 more source