Results 211 to 220 of about 685,074 (293)

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

A novel mutation in <i>SETD1A</i> is associated with early-onset epilepsy-a rare case report. [PDF]

Front Neurosci
Su R, Zhu L, Jiang LX, Li YL, Fan LL.
europepmc   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Colorless image processing technique combining chromaticity transfer and image feature extraction in visual graphic design. [PDF]

Sci Rep
Wu T, Liu B.
europepmc   +1 more source

Neuroprotection after transient middle cerebral artery occlusion in male rats using kojic acid nanostructured lipid carriers: A behavioral, biochemical, and histological study on hippocampal CA1 region

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that kojic acid–loaded nanostructured lipid carriers (KA‐NLC) provide significant neuroprotection in a male rat model of middle cerebral artery occlusion (MCAO)–induced stroke. Treatment with KA‐NLCs reduced cerebral edema, improved motor and coordination balance and neurological scores, and enhanced spatial and avoidance memory.
Mobina Gheibi, Erfan Ghadirzadeh, Javid Tebyani, Seyedeh Mohadeseh Moyaedi, Khadijeh Khezri, Majid Saeedi, Ali Siahposht‐Khachaki, Narges Karimi, Melika Pourhossein, Shiva Shadi, Sasan Shafiei, Atena Sharifi‐Razavi   +11 more
wiley   +1 more source

Robust filtering of thin-slice reconstructions improves lacunar stroke detection in CT perfusion imaging. [PDF]

Med Phys
Vromans J, Bennink E, Dankbaar JW, Velthuis BK, de Jong HWAM.   +4 more
europepmc   +1 more source

Hippocampal Seizure‐Related Burden is Associated with Accelerated Long‐Term Forgetting in Focal Epilepsy

Annals of Neurology, EarlyView.
Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu, Isabelle Lambert, Olivier Felician, Samuel Medina Villalon, Agnès Trébuchon, Fabrice Bartolomei   +5 more
wiley   +1 more source

In Silico to In Cerebro—Development of the Orexin Receptor Antagonist “Photorexant” for Photomodulation In Vitro and in Mouse Brains

Angewandte Chemie International Edition, EarlyView.
Following a structure‐based design approach, photoswitchable derivatives of the FDA‐approved drug suvorexant were designed, docked, synthesized, and characterized pharmacologically at the orexin 1 and 2 receptors (OX1R and OX2R). Optimized “photorexant” showed up to an 11‐fold difference in IC50 between photoisomers, enabled dynamic and reversible ...
Marcus Angermann, Marie H. Deventer, Vicente Ledesma‐Martin, Nuno Martinho, Alix Flake, Silvia Mori, Angel Nuñez, Jaime Pignatelli, Rita C. Guedes, Christophe P. Stove, Michael Decker   +10 more
wiley   +1 more source

Optimized flood scene segmentation with swin transformer-based architecture. [PDF]

Sci Rep
Preetha S, M S SP, Manikandan P.
europepmc   +1 more source

Cortical bone distribution in the human mandibular symphysis: Ontogenic and morphometric approaches in archeological context

The Anatomical Record, EarlyView.
Abstract The human mandibular symphysis concentrates multiaxial loads during function and remodels throughout growth, but the precise mechanisms underlying cortical bone shape during growth remain relatively unexplored. Approaches based solely on thickness or external cortical contours provide only partial insights and do not capture the functional ...
Ana Ribeiro, Elsa Garot, Christine Couture, Pierre‐Hadrien Decaup   +3 more
wiley   +1 more source