Results 181 to 190 of about 138,393 (216)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Cluster-Randomized Trial to Evaluate a Centralized Clinical Pharmacy Service in Private Family Medicine Offices. [PDF]

Circ Cardiovasc Qual Outcomes, 2018
Carter BL, Levy B, Gryzlak B, Xu Y, Chrischilles E, Dawson J, Vander Weg M, Christensen A, James P, Polgreen L.   +9 more
europepmc   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Mitigating Teclistamab Toxicity: Prophylactic Tocilizumab and Timing of Immunoglobulin Replacement Therapy in a Nationwide Cohort

American Journal of Hematology, EarlyView.
Astrid Hundebøll Torpe, Jonathan Thorsen, Gustav Mathiasen, Katrine Fladeland Iversen, Sarah Farmer, Thomas Lund, Charlotte Toftmann Hansen, Lene Kongsgaard Nielsen, Nicolai Grønne Dahlager Jørgensen, Maja Ølholm Vase, Elena Manuela Teodorescu, Morten Salomo, Christina Wennerström, Tobias S. Slørdahl, Agoston Gyula Szabo   +14 more
wiley   +1 more source

Animal research in the UK: Regulation, implementation, welfare and development of new approach methodologies

Animal Models and Experimental Medicine, EarlyView.
Scientific research with animals in the UK is regulated by the Animals (Scientific Procedures) Act 1986 with the National Centre for the Replacement, Refinement and Reduction of Animals in Research providing support for best practice and facilitating development of new approach methodologies.
Ewan St. John Smith, James Bussell, Maggie Gentry, Elliot Lilley, Cathy Merry, Judy MacArthur Clark, William Reynolds   +6 more
wiley   +1 more source

Tunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction

Advanced NanoBiomed Research, EarlyView.
In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...
Alexander Chen, Michael B. Nguyen, Elliot Widd, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Houston Harding, Chloe Hurteau, Anika Yogi, Colin Luo, Rebecca L. Braden, Pedro Cabrales, Karen L. Christman   +14 more
wiley   +1 more source

Reenvisioning the De Mayo Reaction: A Boron‐Enabled Cycloaddition Approach

Angewandte Chemie, EarlyView.
An oxa‐boracycle conformational lock strategy enables photocatalytic [2+2] cycloaddition to afford densely substituted cyclobutylboronates. The conformational constraint suppresses triplet relaxation and promotes productive bimolecular reactivity.
Neetu Sharma, Yanyao Liu, Partha Sarathi Hazra, Evan B. Piper, Ryan Van Hoveln, Michael Kevin Brown   +5 more
wiley   +1 more source

Total Chemical Synthesis of Interleukin‐15 and Interleukin‐2: Taming Protein Hydrophobicity and Aggregation by a Versatile Solubilizing Strategy

Angewandte Chemie, EarlyView.
A reducible solubilizing tag strategy (RST‐2.0) enables the synthesis, purification and ligation of difficult peptides while being readily removable just during folding, which overcomes the common challenges from protein hydrophobicity and aggregation. With this method, we achieved the first total synthesis of native and N‐glycosylated IL‐15 as well as
Jingwen Zeng, Haiyan Zhou, Wang Xia, Hongxiang Wu, Xuechen Li   +4 more
wiley   +1 more source

Substrate‐Controlled Enantiodivergence in Ni‐Catalyzed Access to Phosphorylated Oxindoles With Quaternary Stereocenters

Angewandte Chemie, EarlyView.
An efficient, enantiodivergent synthesis of phosphorylated oxindoles with quaternary stereocenters is achieved via a nickel‐catalyzed intermolecular Heck‐phosphorylation cascade. Employing a single chiral catalyst, either product enantiomer is selectively accessed simply by changing the alkene leaving group. DFT calculations trace this stereodivergence
Haimeng Zhu, Lewen Wang, Shihui Luo, Xinglong Zhang, Jun (Joelle) Wang   +4 more
wiley   +1 more source