Results 131 to 140 of about 314 (196)

New perspectives on VEGF signalling in Alzheimer's disease

Brain Pathology, Volume 36, Issue 5, September 2026.
Emery et al. bring together findings from recent multi‐omic studies, including single‐cell mRNA analysis of human post‐mortem brain tissue, and proteomic analysis of matched CSF and blood samples in large clinical studies. The authors present evidence of the involvement of altered VEGF signalling in vascular and immune dysfunction and neurodegeneration
Cherelle E. G. Emery, Seth Love, J. Scott Miners   +2 more
wiley   +1 more source

Peripheral κ opioid receptor in pain and inflammation: From molecular signalling and gene expression to drug discovery

British Journal of Pharmacology, Volume 183, Issue 17, Page 5157-5189, September 2026.
The κ opioid receptor (κ receptor, KOR) is a G protein‐coupled receptor with well established roles in analgesia and immune modulation. Although historically studied primarily in the central nervous system (CNS), growing evidence indicates that κ signalling in peripheral tissues plays an important role in regulating pain, inflammation and immune ...
Rumsha Khan, Elena C. A. Becker, Boglarka B. Bata, Christian W. Gruber   +3 more
wiley   +1 more source

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, Volume 110, Issue 3, Page 358-362, September 2026.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella

The Application of Clinical Genetics
Yaxian Ma,1,2,* Yuecheng Yang,3,4,* Tong Zhang,1,2 Daoheng Hu,5,6 Yuancun Zhao,5,6 Xuancheng Mai,1,2 Junxue Ni,3 Jie Zhang5,6 1Department of Reproductive Medicine and NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in ...
Ma Y, Yang Y, Zhang T, Hu D, Zhao Y, Mai X, Ni J, Zhang J   +7 more
doaj  

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

A drought stress‐induced MYB transcription factor regulates pavement cell shape in leaves of European aspen (Populus tremula)

New Phytologist, Volume 251, Issue 5, Page 2688-2705, September 2026.
MYB305a promoter expression increases in pavement cells as they grow and acquire their complex shape. Summary Leaf pavement cells of many plant species develop jigsaw puzzle‐like shapes in which neighboring cells interdigitate, providing an ideal model for the study of cell shape regulation.
Sijia Liu, Siamsa M. Doyle, Kathryn M. Robinson, Zahra Rahneshan, Nathaniel R. Street, Stéphanie Robert   +5 more
wiley   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

CD4+ Tregs Drive Post‐Ischemic Sprouting Angiogenesis via Endothelial YY1/MAML1 Reactivation

Advanced Science, Volume 13, Issue 45, 13 August 2026.
ABSTRACT Microvascular complications of diabetes are chronic diseases of small vessels. We previously found that CD4+ regulatory T‐cells (Tregs) are markedly reduced in type 2 diabetes (T2D) after ischemic injury in both mice and humans, and that Treg deficiency in immunodeficient mice impairs vascular regeneration.
Hang Qu, Cheng Kiu Ho, Jitao Liu, Lei Cui, Yangfeng Hou, Cai Liang, Wenchu Ye, Randolph H. L. Wong, Shohei Hori, Bin Zhou, Kathy O. Lui   +10 more
wiley   +1 more source