Results 171 to 180 of about 124,757 (203)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

Angewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma, Komal Sharma, Anku Sharma, Kamya Rao, Rahul Jain, Brett VanVeller   +5 more
wiley   +2 more sources

Adipose‐derived mesenchymal stem cell injection into the KI10 acupoint mitigates cartilage damage in KOA rats through PGE2‐mediated α7nAChR/NF‐κB pathway

Animal Models and Experimental Medicine, EarlyView.
In our research, KOA rat models were established and treated with ADSC injection into the KI10 acupoint. Pain relief, behavioral function, and joint structural improvements were systematically assessed using ethological tests, imaging, histopathological staining, transmission electron microscopy, and molecular analyses.
Mengwei Dong, Wenfang Li, Wanpeng Yang, Te Ba, Nan Nan, Yang Liu, Jing Han, Huiqin Hao   +7 more
wiley   +1 more source

Association of DPP4 with esophageal stricture progression and the Hippo‐YAP pathway

Animal Models and Experimental Medicine, EarlyView.
This study establishes a comprehensive translational platform for esophageal stricture (ES) research by integrating a novel rat model with clinically relevant porcine validation. This study identifies DPP4 as a gene of interest associated with ES following endoscopic submucosal dissection, demonstrating that prophylactic DPP4 inhibition attenuates ...
Rui Wu, Chen Wang, Hui‐Min Tao, Jin Huang, Wei‐Qin Li, Zhi‐Ning Fan   +5 more
wiley   +1 more source

A de‐novo Approach Towards Divergent [3+2π/σ] Photocycloadditions of Nitrones via Assembly‐Controlled Kinetic Electron Transfer Gating

Angewandte Chemie, EarlyView.
A metal‐free photocatalytic platform converts nitrones into 4‐isoxazolines and oxa–aza–bicycloheptanes through divergent [3+2π/σ] cycloadditions. Assembly‐controlled kinetic electron transfer gating dictates substrate activation, enabling selective reactivity beyond thermodynamic expectations.
Nayan Saha, Rajesh Kancherla, Jorge Escorihuela, Shana Chandran, Mrinal K. Bera, Magnus Rueping, Burkhard König   +6 more
wiley   +2 more sources

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

Advanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi, Md Mijanur Rahman, Asma Talukder, Urooj Yousaf Virk, Jennifer C. Wilson, Nigel McMillan, Ming Q. Wei   +6 more
wiley   +1 more source

Development of a prediction model of severe reaction in oral food challenge [PDF]

Clin Transl Allergy, 2015
Shiro S, Teruaki M, Kemaru S, Tomoko N, Joon N, Naoyuki K, Komei I.   +6 more
europepmc   +1 more source

Innovative PLA or PCL‐Based Ocular Implants Obtained From Tape Casting or Electrospinning for Sustained‐Release Dexamethasone

Journal of Applied Polymer Science, EarlyView.
PLA and PCL ocular implants prepared by tape casting and electrospinning provide sustained dexamethasone release with distinct release profiles governed by polymer type and processing method. The relationship between polymer structure, degradation behavior, and drug release demonstrates the potential of these fabrication techniques for controlled ...
Renata Bochanoski, Henrique Borba Modolon, Ronaldo Silveira, Januara Rodrigues, Tiago Bender Wermuth, Sabrina Arcaro, Oscar R. K. Montedo   +6 more
wiley   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source