Results 211 to 220 of about 84,699 (302)

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

open access: yesAmerican 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   +16 more
wiley   +1 more source

Light‐Activated Isolation of High‐Quality Mitochondria for Therapeutic Transplantation

open access: yesAngewandte Chemie, EarlyView.
The Light‐Activated Mitochondrial Isolation (LAMI) platform enables the selective and non‐destructive isolation of high‐purity, metabolically active mitochondria. By integrating modular, ligand‐programmable magnetic probes with photo‐cleavable release, LAMI overcomes long‐standing limitations of conventional isolation methods and provides a robust ...
Hui Liu   +12 more
wiley   +2 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Phosphoryl Radicals from Trivalent Iminyl Phosphines: A Photocatalytic Approach to N‐Phosphoryl Azetidines

open access: yesAngewandte Chemie, EarlyView.
Photochemically generated phosphoryl radicals from iminyl phosphines enable strain‐release addition to azabicyclobutanes, providing access to elusive N‐phosphoryl azetidines. Combined experimental, computational, and EPR studies reveal an unconventional water‐assisted photoredox pathway.
Chandu G. Krishnan   +4 more
wiley   +2 more sources

Early diabetes‐like phenotypes in germ‐free mice induced by gut microbiota from patients with type 2 diabetes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Gut microbiota from patients with type 2 diabetes induced early diabetes‐like phenotypes in germ‐free mice, including progressive glucose intolerance and mild renal injury. Longitudinal profiling revealed persistent dysbiosis preceding stable metabolic dysfunction, with coordinated fecal and plasma metabolite alterations and a prominent L‐Dopa ...
Jianghao Feng   +6 more
wiley   +1 more source

Radiograph-Based Deep Learning Model to Support Finger Joint Selection for Ultrasound Examination in Rheumatoid Arthritis. [PDF]

open access: yesDiagnostics (Basel)
Park Y   +8 more
europepmc   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

open access: yesAdvanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia   +10 more
wiley   +1 more source

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