Results 31 to 40 of about 83,740 (212)

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

Scienceography: the study of how science is written [PDF]

, 2012
Scientific literature has itself been the subject of much scientific study, for a variety of reasons: understanding how results are communicated, how ideas spread, and assessing the influence of areas or individuals.
Cormode, Graham, Muthukrishnan, S., Yan, Jinyun   +2 more
core   +2 more sources

G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution

American Journal of Hematology, EarlyView.
Akshay Sharma, Allistair Abraham, Monica Bhatia, María Cancio, Sonali Chaudhury, Selim Corbacioglu, Gregory M. T. Guilcher, Ashish O. Gupta, Rabi Hanna, Matthew M. Heeney, Tami John, Lakshmanan Krishnamurti, James L. LaBelle, Hemalatha G. Rangarajan, Shalini Shenoy, Elizabeth Stenger, Crawford Strunk, Courtney D. Fitzhugh   +17 more
wiley   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

The Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li, Mike Schindler, Martha Paskin, Venkata A. Surapaneni, Elliott Scott, Sabine Hauert, Nicholas Payne, David E. Cade, Jeremy A. Goldbogen, Frederik H. Mollen, Daniel Baum, Sean Hanna, Mason N. Dean   +12 more
wiley   +1 more source

The witness of the worshiping community: liturgy and the practice of evangelism [PDF]

, 1998
Reviewed Book: Senn, Frank C. The witness of the worshiping community: liturgy and the practice of evangelism.
Nevile, Donald C.
core   +1 more source

From concept to community of practice in anatomical ethics and professionalism: 5 years of the “Bioethics Unicorns” education initiative

Anatomical Sciences Education, EarlyView.
Abstract The topics of ethics and professionalism in anatomy have only recently gained prominence within the discipline, reflecting trends in medical and health professions education and an increasing awareness of societal expectations around the use of the dead.
Jon Cornwall, Sabine Hildebrandt, Thomas Champney   +2 more
wiley   +1 more source

Investing in Impact: Media Summits Reveal Pressing Needs, Tools for Evaluating Public Interest Media [PDF]

, 2010
Outlines the case for assessing the impact of public interest media projects, impact evaluation needs, and five new assessment tools, including a unified social media dashboard, model formats and processes to communicate outcomes, and common survey ...

core  

Promoting engagement in embryology through gamified student‐developed small group sessions

Anatomical Sciences Education, EarlyView.
Abstract Learning embryology is often challenging for students as it requires conceptualizing morphological changes to embryologic structures across time. To further complicate the process, while some structures transition to permanent structures, others disappear or degenerate.
Jessica N. Byram, Sabrina C. Woods, Elizabeth R. Agosto   +2 more
wiley   +1 more source

Information retrieval or document retrieval? Terminological confusions and unrealistic goals in information science, exemplified in relation to generative artificial intelligence

Journal of the Association for Information Science and Technology, EarlyView.
Abstract ChatGPT and related technologies have revived an old issue in information science (IS) concerning information retrieval (IR) versus document retrieval. Since 1950, the term IR has primarily been used as a misnomer for document retrieval. This problematic terminology reflects a desire to go beyond documents and provide, in response to user ...
Birger Hjørland
wiley   +1 more source

A Time to Laugh: Religious Humor in Contemporary Russia

, 2017
Contemporary Russian religious humor continues the tradition of this spiritual and selfsacrificial laughter. The anecdotes that are gathered here make fun not only of religion and its characteristic attributes, but of human imperfections and shortcomings,
Sergeev, Mikhail
core