Results 91 to 100 of about 151,323 (257)

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

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Plant Virus Immunotherapy for HPV‐Associated Oropharyngeal Squamous Cell Carcinoma

Advanced NanoBiomed Research, EarlyView.
Cowpea mosaic virus (CPMV) nanoparticles are safe and potent cancer immunotherapy candidates with strong immunomodulatory activity. CPMV activates innate immunity, which in turn drives adaptive immune responses and promotes durable, systemic antitumor effects.
Jessica Fernanda Affonso de Oliveira, Patrick Opdensteinen, Andrea Simms, Seongwon Jung, Giuliana P. Mognol, Hui Chen, Judith A. Varner, Nicole F. Steinmetz   +7 more
wiley   +1 more source

Lung parenchymal and cardiac appearances on computed tomography pulmonary angiography impact survival in chronic thromboembolic pulmonary hypertension: results from the ASPIRE Registry

ERJ Open Research
Background Chronic thromboembolic pulmonary hypertension (CTEPH) is commonly evaluated using computed tomography pulmonary angiography (CTPA). We evaluated the frequency and impact of parenchymal and cardiac abnormalities on survival in CTEPH.
Lojain Abdulaal, Ahmed Maiter, Krit Dwivedi, Michael J. Sharkey, Samer Alabed, Dheyaa Alkhanfar, Alexander Rothman, Smitha Rajaram, Robin Condliffe, David G. Kiely, Andrew J. Swift   +10 more
doaj   +1 more source

Nanodiamonds as Bioactive Platforms to Modulate Microbial, Mammalian, and Vertebrate Systems

Advanced NanoBiomed Research, EarlyView.
Nanodiamonds (NDs) are biocompatible and antibacterial nanomaterials that support mammalian cell growth while inhibiting bacterial pathogens. NDs showed strong antibacterial activity, with Escherichia coli being more sensitive than Staphylococcus aureus. At 10 mg/mL, both bacteria exhibited ~8% viability.
Aaqil Rifai, Ayushi Priyam, Ahmed Rashed, Gebreselassie Addisu Tilaye, Kamal Poudel, Aaron G. Schultz, Richard J. Williams   +6 more
wiley   +1 more source

Using Synthetic Glycans to Investigate Anti‐Glycan Antibodies and Explore Their Medical Potential

Angewandte Chemie International Edition, EarlyView.
Anti‐glycan antibodies are essential in health and disease. Access to novel glycan structures paves the way for progress in antibody profiling for biomarker discovery, antibody development, and vaccine design. We summarize the strategies to synthesize and utilize synthetic glycans for the development and application of anti‐glycan antibodies in basic ...
Fabienne Weber, Aina Valenti, Jiří Ledvinka, Oren Moscovitz, Peter H. Seeberger   +4 more
wiley   +1 more source

Association of Clonal Hematopoiesis With Incident, Late‐Onset, Seropositive Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Clonal hematopoiesis (CH), defined by acquired driver mutations in hematopoietic stem cells, is associated with many inflammatory diseases of aging. We investigated whether CH and its subtypes, CH of indeterminate potential (CHIP) and mosaic chromosomal alteration (mCA), are associated with incident rheumatoid arthritis (RA) and whether ...
Kun Zhao, Yash Pershad, J. Brett Heimlich, Michelle Ormseth, C. Michael Stein, Brian Sharber, Caitlyn Vlasschaert, Alexander G. Bick, Robert W. Corty   +8 more
wiley   +1 more source

Dnmt3a Mutations Limit Normal and Autoreactive CD4+ T Follicular Helper Responses and Attenuate T Cell–Driven Joint Inflammation

Arthritis &Rheumatology, EarlyView.
Objective Somatic DNMT3A mutations are the most common drivers of clonal hematopoiesis in patients with rheumatoid arthritis (RA) and have been associated with seropositive disease and increased markers of inflammation. These mutations are predominantly hypomorphic or dominant‐negative, reducing DNMT3A function.
Yunbing Shen, Sanjaykumar Boddul, Zhaojun Li, Zsolt Kasza, Marlene Schülein, Bruno Raposo, Karine Chemin, Per‐Johan Jakobsson, Alexander Espinosa, Lars Klareskog, Fredrik Wermeling   +10 more
wiley   +1 more source