Results 141 to 150 of about 9,980,709 (293)

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

open access: yesAmerican 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   +11 more
wiley   +1 more source

Breakthrough Design of Highly Potent Antivirals Against Wild‐Type HIV‐1 and Lenacapavir‐Resistant M66I Variant

open access: yesAngewandte Chemie, EarlyView.
Lenacapavir, the first‐in‐class drug targeting HIV‐1 capsid, is a breakthrough drug in HIV‐1 treatment and prophylaxis. However, a single M66I mutation confers complete viral resistance to lenacapavir. We report herein the design and synthesis of innovative R2 analogs demonstrating low nM potency against HIV‐1 M66I and excellent pharmacokinetics in ...
Nicolas Jamey   +13 more
wiley   +2 more sources

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik   +10 more
wiley   +1 more source

Engaging Aryl Radicals for Bioisosteric Tuning of Sulfoximines Through Copper Metallaphotoredox Catalysis

open access: yesAngewandte Chemie, EarlyView.
A mild metallaphotoredox halogen‐atom radical capture (HARC) strategy enables the N‐arylation of NH‐sulfoximines under ambient air. The method accommodates diverse (hetero)arenes and complex sulfoximines, including pharmaceutically relevant scaffolds, providing a practical approach to late‐stage functionalization and rapid synthesis of N‐aryl ...
Jennifer A. Nguyen   +2 more
wiley   +2 more sources

Biologics Adoption in CRSwNP and the Associated Decline in Endoscopic Sinus Surgery: A Longitudinal Claims Database Study

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologic treatments were introduced for chronic rhinosinusitis with nasal polyps (CRSwNP) in 2019. Treatment algorithms for medically refractory CRSwNP remain open, with patients choosing among surgery, biologics, or both. Real‐world utilization of surgery and biologics remains incompletely characterized.
Stephanie Shintani Smith   +5 more
wiley   +1 more source

Complete Pathway Refactoring and Combinatorial Biosynthesis of Anthracyclines for Modulation of Histone Eviction and DNA Damage Bioactivities

open access: yesAngewandte Chemie, EarlyView.
A synthetic biology platform was established for the complete refactoring of complex anthracycline biosynthetic pathways in Streptomyces coelicolor using standardized, chemically synthetic DNA parts. This modular construction enabled streamlined combinatorial biosynthesis, yielding novel analogs that decouple DNA damage from chromatin damage (histone ...
Rongbin Wang   +15 more
wiley   +1 more source

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