Results 171 to 180 of about 202,261 (242)

Subtype-Specific Associations Between Hyperlipidemia and Age-Related Cataract: A Clinic-Based Cross-Sectional Study. [PDF]

Clin Interv Aging
Qin Y, Hong Y, Ning L, Zhang S, Xiao B, Ji Y.   +5 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Plenary: Abstracts P1-P3

CHIMIA, 2013
doaj   +1 more source

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

Bending‐Induced Vibrational Landscape Reorganization Governs Energy Dissipation in Perylene Bisimides

Angewandte Chemie, EarlyView.
Gradually bent perylene bisimides (PBIs) isolate structural distortion as the sole variable and exhibit negligible intersystem crossing, uncovering rapid vibrational dephasing as the dominant driver of internal conversion through excited‐state vibrational landscape reorganization.
Wei Zhang, Di Zhao, Byeongjoo Kang, Hui‐Jun Zhang, Yeonju Park, Young Mee Jung, Woojae Kim, Jianbin Lin, Dongho Kim   +8 more
wiley   +2 more sources

iPatax: a Tablet-based Tool for Quantitative Assessment of Cerebellar Ataxia. [PDF]

Cerebellum
Nagai T, Koide S, Ishihara T, Tada M, Nishizawa M, Onodera O.   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Neural mechanisms of emotion-modulated startle reflexes: insights from ERP and EEG oscillations. [PDF]

PeerJ
Long F, Hou L, Zhou R.
europepmc   +1 more source

Human Leukocyte Elastase Triggered Nanoparticles for Targeted Antimicrobial Delivery and Oral Microbial Modulation

Advanced NanoBiomed Research, EarlyView.
This study explores enzyme‐responsive nanoparticles for targeted antimicrobial release in inflamed oral environments. Nanoparticles formed by complexing peptides and chlorhexidine respond to human leukocyte elastase and release chlorhexidine selectively. P7 (ECAAPVCE)‐based formulations show optimal properties and stability, with antimicrobial activity
Mohammed A. Hadis, Ignacio Insua, Farah N. S. Raja, Álvaro Vila, William M. Palin, Michael R. Milward, Paul R. Cooper, Sarah A. Kuehne, Owen Addison, Paco Fernandez‐Trillo   +9 more
wiley   +1 more source

Reductive Activation of White Phosphorus to [P4]2–, [P2]2–, and a Formal P2– Radical by Rare‐Earth Dinitrogen Complexes

Angewandte Chemie, EarlyView.
Masked divalent yttrium and gadolinium dinitrogen complexes mediate the fragmentation of white phosphorus, converting P4 into discrete dimetallic complexes of [P4]2– and [P2]2– ligands, and an unprecedented monatomic P2– radical ligand. Structural, spectroscopic, magnetic, and DFT studies reveal insight into the bonding between these unusual Pn units ...
Arpan Mondal, Richard A. Layfield
wiley   +2 more sources