Results 61 to 70 of about 3,944 (168)

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

The Interaction of LAMA2 and Duration of Illness Affects the Thickness of the Right Transverse Temporal Gyrus in Major Depressive Disorder

Neuropsychiatric Disease and Treatment, 2023
Gang Chen,1– 3 Lei Li,2,4 Taipeng Sun,1– 3 Chenguang Jiang,1,2 Wei Xu,1,2 Suzhen Chen,1,2 Changchun Hu,1 Yingying Yue,1,2 Tianyu Wang,1,2 Wenhao Jiang,1,2 Yonggui Yuan1,2 1Department of Psychosomatics and Psychiatry, ZhongDa Hospital, School of Medicine,
Chen G, Li L, Sun T, Jiang C, Xu W, Chen S, Hu C, Yue Y, Wang T, Jiang W, Yuan Y   +10 more
doaj  

Mitochondrial permeability transition in skeletal muscle phenocopies muscle alterations seen in cancer cachexia and other wasting conditions

The Journal of Physiology, EarlyView.
Abstract figure legend Skeletal muscle wasting conditions are characterized by muscle fibre atrophy, mitochondrial respiratory dysfunction, mitochondrial depletion and fragmentation of acetylcholine receptor (AChR) cluster at the neuromuscular junction.
Maya Semel, Cole Lukasiewicz, Sarah Skinner, Mark R. Viggars, Sung Gi Noh, Martin Picard, Abbey‐Gale Mannings, Michael S. Cohen, Dennis W. Wolan, Terence E. Ryan, Russell T. Hepple   +10 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Modulation of miR‐23b Wnt/β‐catenin Axis Strengthens Endothelial Barrier Properties

Advanced Science, Volume 13, Issue 57, 14 October 2026.
Early blood‐brain barrier (BBB) disruption contributes to stroke and CNS disease pathology. miR‐23b was identified as a regulator of BBB integrity in brain endothelial cells. Inhibition of miR‐23b enhanced barrier‐associated properties, promoted repair‐related signaling, and reduced BBB leakage in experimental stroke models, supporting further ...
Victor Anthony Martinez, Rose E. Presby, Sara Nakanishi, Pallavi Gaur, Ugur Akcan, Johannes Daugaard Krog, Iben Daugaard Krog, Lipi Das, David S. Johnson, Danny Jamoul, Douglas Jury, Brian Lawson, Jacob Körbelin, Lewis M. Brown, Vilas Menon, Dritan Agalliu, Irene Munk Pedersen   +16 more
wiley   +1 more source

An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy

Cureus
Mutations in the alpha-2 subunits of the laminin gene (LAMA2) cause an autosomal recessive congenital muscular dystrophy (CMD) subtype known as laminin a2-related muscular dystrophies (LAMA2-RD). LAMA2-RD can present with a wide range of phenotypes ranging from severe infantile congenital muscular dystrophy to milder adult-onset limb-girdle muscular ...
Saluja, Alvee, Ghotekar, L. H, Anees, Shahbaz, Haque, Anul, Dhamija, Rajinder K   +4 more
openaire   +2 more sources

Dynamic Remodeling of Oocyte‐Granulosa Cell Communication During Bovine Folliculogenesis Revealed by Transcriptomic Meta‐Analyses

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
Bidirectional communication between oocytes and granulosa cells undergoes progressive remodeling during bovine folliculogenesis. Integrative transcriptomic analysis identified stage‐specific ligand‐receptor signaling networks coordinating structural, metabolic, and developmental processes.
Noemi Monferini, Ludovica Donadini, Pritha Dey, Federica Franciosi, Valentina Lodde, Maria Belen Rabaglino, Alberto Maria Luciano   +6 more
wiley   +1 more source

Low Carbohydrate Availability in Energy Balance Alters Bone Turnover and Muscle Proteomic Response With Limited Endocrine Disruption

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Eight trained males completed 4 days of normal‐carbohydrate or low‐carbohydrate (81% reduction in carbohydrate) diets while maintaining energy balance and undertaking daily exercise. Low carbohydrate decreased total body water and fat‐free mass, increased circulating free fatty acids, glycerol and β‐hydroxybutyrate, alongside increased fat oxidation at
Erick Mosquera‐Lopez, Harry L. Taylor, Yusuke Nishimura, Carl Langan‐Evans, Sam O. Shepherd, Juliette A. Strauss, James P. Morton, Jatin G. Burniston, Jose L. Areta   +8 more
wiley   +1 more source

Flash Assembloids: A Rapid Biofabrication of a Platform for Modeling Early Glioblastoma Invasion at the Glioblastoma–Brain Organoid Interfaces

Advanced Healthcare Materials, Volume 15, Issue 33, 4 September 2026.
This study presents a bioengineered assembloid (ASM) system combining glioblastoma (GBM) cells in oxidized alginate (OA) microgels with dorsal organoids (DOs). This model simulates brain tumor‐host interactions, revealing enhanced GBM invasion, altered gene expression, and aggressive infiltration patterns, demonstrating ASM as a valuable platform for ...
Chao Liang, Henry Robert Howard, Shihui Chen, Won‐Young Choi, Summer Cao, Arthur Chien, Kevin Zou, Michael Kassiou, Fabien Delerue, Ho Sang Jung, Yeonju Park, Young Mee Jung, Yong‐Dae Kwon, Karrie M. Kiang, Gilberto Ka‐Kit Leung, Ryohichi Sugimura, Ann‐Na Cho, Sang Jin Lee   +17 more
wiley   +1 more source

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PLoS ONE, 2012
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs   +10 more
doaj   +1 more source