Results 201 to 210 of about 353,184 (297)

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

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, EarlyView.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Second‐Generation Crystalline Sponges Enabling Consistent Structure Analysis Under Standardized Conditions for Diverse Molecules

Angewandte Chemie, EarlyView.
The second‐generation crystalline sponge method allows structurally diverse molecular guests to crystallize under standardized crystallization conditions. The key is the predominant packing type of cages and anions in crystals. ABSTRACT Crystallization is typically highly sensitive to even minor structural differences in target molecules.
Wei He, Hiroki Takezawa, Makoto Fujita
wiley   +2 more sources

Human health benefit and burden of the schizophrenia health care pathway in Belgium : paliperidone palmitate long-acting injections [PDF]

, 2019
De Smedt, Delphine, Debaveye, Sam, Dewulf, Jo, Heirman, Bert, Kavanagh, Shane   +4 more
core   +1 more source

Alkoxysulfonium Salts Unlock Access to New Aryl Sulfonium Salts for Cross‐Coupling

Angewandte Chemie, EarlyView.
Hard‐to‐access (hetero)aryl sulfonium salts are prepared using stable methoxysulfonium salts in combination with the magnesiation of (hetero)aryl bromides. The approach allows access to aryl sulfonium salts bearing electron‐deficient (hetero)aryl rings, or electron‐rich aryl motifs in which the sulfonium motif resides at an alternative position on the ...
Rachel E. Brown, Navpreet Kaur, Anne‐Chloe M. A. Nassoy, Ciro Romano, David J. Procter   +4 more
wiley   +2 more sources

Weight Loss Efficacy of Tirzepatide Compared to Placebo or GLP-1 Receptor Agonists in Adults With Obesity or Overweight: A Meta-Analysis of Randomized Controlled Trials With ≥ 20 Weeks Treatment Duration

Journal of Obesity
Alhussain Khawaji, Abdulaziz A. Jaly, Hanan A. Bakri, Renju Ravi, Ahmed Hattan, Abdullah Khawaji, Wael Najmi   +6 more
doaj   +1 more source

Individualized Treatment in Distal and Medium Vessel Occlusion Stroke Using a Validated Explainable Counterfactual Treatment Estimation Model

Annals of Neurology, EarlyView.
Objective The optimal treatment for distal medium vessel occlusion (DMVO) stroke remains uncertain, and evidence comparing endovascular therapy (EVT) with medical management (MM) is limited. We aimed to develop and validate a predictive modeling tool to assess individual treatment benefit in DMVO stroke using explainable counterfactual treatment ...
Mohamed F. Doheim, Mahmoud H. Mohammaden, Hend Abdelhamid, Marta Olive‐Gadea, Marc Rodrigo‐Gisbert, Manuel Requena, Johanna T. Fifi, James E. Siegler, Santiago Ortega‐Gutierrez, Mohamad Abdalkader, Ali Alaraj, Wei Hu, Thanh N. Nguyen, Diogo C. Haussen, Raul G. Nogueira   +14 more
wiley   +1 more source

Photoenzymatic Hydroalkylation Enables Streamlined Access to Aryl Glutarimide Precursors

Angewandte Chemie, EarlyView.
We report a photoenzymatic hydroalkylation that enables streamlined, stereocontrolled access to aryl glutarimide precursors relevant to targeted protein degradation. Engineered flavin‐dependent “ene”‐reductases provide broad scope and high enantioselectivity through a distinct electron transfer–enantioselective proton transfer pathway.
Zhi Xu, Prasun Mukherjee, Steven Gossert, Stephen Thomas, Vasil H. Vasilev, Eric R. Welin, Yichen Tan, Shane M. McKenna, Megan A. Emmanuel, Todd K. Hyster   +9 more
wiley   +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