Results 181 to 190 of about 3,613,864 (281)

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

Legal awareness and responsibilities of nursing staff in administration of patient care in a trust hospital. [PDF]

J Clin Diagn Res, 2013
Kumar H, Gokhale, Jain K, Mathur DR.
europepmc   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Geneticization outside genetics' birthplace: ethical, legal and social implications in the Gulf Cooperation Council region. [PDF]

Front Genet
Shaheen S, Ghaly M.
europepmc   +1 more source

Integrated Evaluation of Contaminant Profiles, Detection Techniques, and Management Strategies for Tannery Sludge

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This review article critically examines the environmental and health hazards of tannery sludge (TS), a complex by‐product of the leather tanning industry. TS is characterized by a diverse array of contaminants, including heavy metals like chromium, organic pollutants such as polycyclic aromatic hydrocarbons (PAHs), volatile organic compounds ...
Yashar Aryanfar, Ali Keçebaş, Soheil Hassanzadeh, Arash Nourbakhsh Sadabad, Farhan Lafta Rashid, Shabbir Ahmad, Ahmed Hendy, Hafiz M. Irfan, Shaban Mousavi Ghasemlou, Julio Blanco Fernandez, Jorge Luis Garcia Alcaraz   +10 more
wiley   +1 more source

Implementation gaps in the two-finger test ban in medico-legal evidence collection on rape: a qualitative study in three districts of Bangladesh. [PDF]

Int J Equity Health
Akter N, Khan MSR, Rahman KGM, Naved RT.
europepmc   +1 more source

Cutting Through the Green: A Case for Grassland Archaeology Using UAV Multispectral Data

Archaeological Prospection, EarlyView.
ABSTRACT Advances in low‐altitude remote sensing are needed to improve the effectiveness of archaeological prospection in the Netherlands. The geomorphological situation and land use history make applying various remote sensing and geophysical technologies particularly challenging.
Roeland Emaus
wiley   +1 more source

Ethical navigation of biobanking establishment in Ukraine: learning from the experience of developing countries. [PDF]

J Med Ethics
Sulaieva ON, Artamonova O, Dudin O, Semikov R, Urakov D, Zakharash Y, Kacharian A, Strilka V, Mykhalchuk I, Haidamak O, Serdyukova O, Kobyliak N.   +11 more
europepmc   +1 more source

Efficacy of Telitacicept in Childhood‐Onset Systemic Lupus Erythematosus: A Prospective Multicenter Cohort Study With Inverse Probability of Treatment Weighting –Adjusted Comparison to a Historical Control Group Treated With Belimumab

Arthritis &Rheumatology, EarlyView.
Objective The therapeutic effects of telitacicept combined with standard of care (SoC) in childhood‐onset systemic lupus erythematosus (cSLE) remain unclear. This study aims to evaluate its efficacy in comparison with belimumab combined with SoC.
Chong Luo, Shu Su, Jingyue Liu, Junyu Lin, Jin Song, Zongwen Chen, Yuanyuan Peng, Lijun Jiang, Meng Jia, Li Wang, Xinhui Jiang, Wei Zhang, Zanhua Rong, Bo Zhao, Yajun Wang, Xuemei Tang   +15 more
wiley   +1 more source

Assessing Refugee Trauma: Transformative Clinical Training in a Community Service-Learning Model. [PDF]

J Marital Fam Ther
Reihling H, Jones NR, Nager E, Juarez ML.   +3 more
europepmc   +1 more source