Results 21 to 30 of about 140,878 (296)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

The effectiveness and cost-effectiveness of methods of storing donated kidneys from deceased donors: a systematic review and economic model

Health Technology Assessment, 2009
Objective: To review the evidence for the effectiveness and cost-effectiveness of storing kidneys from deceased donors prior to transplantation, using cold static storage solutions or pulsatile hypothermic machine perfusion.
M Bond, M Pitt, J Akoh, T Moxham, M Hoyle, R Anderson   +5 more
doaj   +1 more source

Noninvasive Glucose Detection with Biodegradable Electrodes from Rice Starch Functionalized with a Carbon Quantum Dot/Nickel Oxide Nanocomposite

Analysis &Sensing, EarlyView.
The graphical abstract shows an eco‐friendly approach to fabricating a biodegradable electrochemical sensor. Carbon quantum dot/nickel oxide (CQD/NiO) nanocomposites are synthesized using Aloe arborescens leaf extract, which served as a natural reducing and stabilizing agent.
Nokwanda Ngema, Ryal Atson, Orlette Mkhari, Mahabubur Rahman Chowdhury   +3 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source

Early Pliocene Varanus (Squamata, Varanidae) remains from Megalo Emvolon, Thessaloniki, Greece

The Anatomical Record, EarlyView.
The article describes new cranial and postcranial varanid material from Megalo Emvolon Lower Pliocene vertebrate fossil site near Thessaloniki. The fossils, likely representing a single individual, are referred to Varanus cf. marathonensis. Abstract This study describes new fossil varanid material from a recently discovered fossil spot (MVL site) at ...
Chara Drakopoulou, Georgios L. Georgalis, Georgios Lazaridis, Dimitris S. Kostopoulos   +3 more
wiley   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

3D anatomical atlas of the heads of male and female adult Chamaeleo calyptratus

The Anatomical Record, EarlyView.
The veiled chameleon is a model organism in reptile development research. Utilizing contrast‐enhanced microCT and deep learning segmentation models, we have generated the first digital atlases of the skull, nervous system, cranial muscles and hyolingual muscles.
Alice Leavey, Eloy Gálvez‐López, Anthony Herrel, Laura B. Porro   +3 more
wiley   +1 more source

Reserva Península de San Julián: Estudios arqueológicos distribucionales en una particular geoforma marítima Reserva Península de San Julián: Distributional archaeological studies in a particular coastal geomorphology

Magallania, 2011
Presentamos los resultados de los trabajos de arqueología distribucional realizados en la península de San Julián, considerada como una geoforma diferente dentro del paisaje de costa, que sugiere una manera particular de utilización por parte de los ...
RAFAEL S PAUNERO, FABIANA SKARBUN
doaj  

Pelvic morphology and body size in relation to the preauricular sulcus: Evidence from medieval to modern Iberia

The Anatomical Record, EarlyView.
Abstract The preauricular sulcus has long been debated as a pelvic feature variably attributed to obstetric stress, ligamentous traction, and broader biomechanical processes. To clarify its determinants, we analyzed 409 adult individuals from three archeological and one early modern skeletal collection from the Iberian Peninsula, integrating graded ...
Rebeca García‐González, Julia Muñoz‐Guarinos, Nico Cirotto, Sonia Díaz‐Navarro, Laura Rodríguez, José Miguel Carretero   +5 more
wiley   +1 more source

Under the Shade of a Coolabah Tree: A Second Cache of Tulas From the Boulia District, Western Queensland

Archaeology in Oceania, EarlyView.
ABSTRACT This paper reports on the excavation of a cache of stone artefacts, buried on the bank of a waterhole or ‘billabong’ in central western Queensland. This is an extremely rare find, and yet it is the second such site to be reported within less than a 10 km radius.
Yinika L. Perston, Lynley A. Wallis, Heather Burke, Lorna Bogdanek, Trevina Rogers, Justine Kemp   +5 more
wiley   +1 more source