Results 81 to 90 of about 150,411 (276)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Green and scalable approaches for synthesis and encapsulating clean metal nanoclusters inside cerium MOFs for efficient glycerol carboxylation with CO2

Journal of CO2 Utilization
In the pursuit of CO₂-neutral renewable energy solutions, biofuels have emerged as one of the key strategies. However, biodiesel production generates a surplus of crude glycerol (GL), creating a need for efficient valorization pathways. The conversion of
Simon Lukato, Agnieszka Krogul-Sobczak, Grzegorz Litwinienko, Ola F. Wendt, Reine Wallenberg, Filip Hallböök, Michal Wojcik   +6 more
doaj   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

4436 A Content Analysis of CTSA Websites: The Identification and Evaluation of CTSA Program Hub Website Content Standards for Knowledge Management of NCATS CTSA Program Goals and Initiatives

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: Introduction: Between 2014 and 2019 the National Institute of Health (NIH) through the National Center for the Advancement of Translational Science (NCATS) has awarded about $2.7 billion to U.S.
Barbara Ann Tafuto, Reynold Panettieri, James Scott Parrot, Shankar Srinivasan, Kristi Holmes, Dagobert Soergel   +5 more
doaj   +1 more source

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. [PDF]

, 2019
PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked ...
A Lund, A Markmann, AD Letocha, AK Anissipour, Allison Tam, B Sykes, BJ Belt-Niedbala, Brendan Lee, BU Nwosu, C Land, D Gatti, David Cuthbertson, DO Sillence, DR Keene, EL Germain-Lee, ER Barros, F Rauch, F Rauch, FH Glorieux, Francis H. Glorieux, Frank Rauch, I Grafe, Jay R. Shapiro, JC Marini, JC Marini, JD Hald, Jeff Krischer, JM Tanner, K Graff, L Zeitlin, LA Dimeglio, Mahim Jain, Mary Mullins, Melanie Pepin, MG Seikaly, Michael B. Bober, Michaela Durigova, MS Aglan, N Bishop, N Bishop, Peter A. Smith, Peter H. Byers, R Sakkers, RH Engelbert, RH Engelbert, RM Patel, Robert D. Steiner, RT Hamza, S Bellur, Sandesh C. S. Nagamani, Sunil Bellur, T Palomo, T Yang, Tracy Hart, U Vetter, V. Reid Sutton, Y Takeuchi   +56 more
core   +2 more sources

Auditory Hyperresponsivity in Chronic Back Pain: A Randomized Controlled Trial of Pain Reprocessing Therapy

Annals of Neurology, EarlyView.
Objective Heightened sensitivity to noxious stimulation is a hallmark of chronic pain. Emerging evidence suggests heightened unpleasantness to non‐noxious (eg, auditory) aversive stimulation also characterizes chronic pain, but its magnitude, neural mechanisms, and treatment modifiability remain unknown.
Alina E. C. Panzel, Christian Büchel, Andrew Leroux, Tor D. Wager, Yoni K. Ashar   +4 more
wiley   +1 more source

Lifespan Pancreas Morphology for Control Versus Type 2 Diabetes Using AI on Largescale Clinical Imaging

Clinical Anatomy, EarlyView.
ABSTRACT Understanding how pancreas size and shape change with normal aging is critical for establishing a baseline to detect deviations in type 2 diabetes and other pancreatic disease. We measure pancreas size and shape using morphological measurements from early development through aging (ages 0–90).
Lucas W. Remedios, Chloe Cho, Trent M. Schwartz, Dingjie Su, Gaurav Rudravaram, Chenyu Gao, Aravind R. Krishnan, Adam M. Saunders, Michael E. Kim, Shunxing Bao, Thomas A. Lasko, Alvin C. Powers, Bennett A. Landman, John Virostko   +13 more
wiley   +1 more source

High-resolution acoustic ejection mass spectrometry for high-throughput library screening

SLAS Technology
An approach is described for high-throughput quality assessment of drug candidate libraries using high-resolution acoustic ejection mass spectrometry (AEMS).
Nate Hoxie, David R. Calabrese, Zina Itkin, Glenn Gomba, Min Shen, Meghav Verma, John S. Janiszewski, Jonathan H. Shrimp, Kelli M. Wilson, Sam Michael, Matthew D. Hall, Lyle Burton, Tom Covey, Chang Liu   +13 more
doaj   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Results of a UK industrial tribological survey

, 2013
During the summer of 2012, the National Centre for Advanced Tribology at Southampton (nCATS) undertook a UK-wide industrial tribological survey in order to assess the explicit need for tribological testing within the UK.
Harvey, T.J., King, Simon, Walker, J.C., Wood, R.J.K.   +3 more
core