Results 101 to 110 of about 63,776 (234)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Evidence for glutamate-mediated excitotoxic mechanisms during photoreceptor degeneration in the rd1 mouse retina [PDF]

, 2005
PURPOSE: Kinetic studies of photoreceptor cell death in the retinal degeneration (rd1) mouse model suggest that photoreceptor degeneration could result from cumulative damage.
Delyfer, MN, Forster, V, Leveillard, T, Neveux, N, Picaud, S, Sahel, JA   +5 more
core  

Deciphering the Immunomodulatory Function of GSN+ Inflammatory Cancer‐Associated Fibroblasts in Renal Cell Carcinoma Immunotherapy: Insights From Pan‐Cancer Single‐Cell Landscape and Spatial Transcriptomics Analysis

Cell Proliferation, EarlyView.
Pan‐cancer scRNA‐seq and ST‐seq analyses identify GSN+ inflammatory cancer‐associated fibroblasts (CAFs) and their spatial distribution in immune checkpoint inhibitor (ICI) therapy. The Caf.Sig model accurately predicts ICI response across cancers using CAF gene signatures and machine learning.
Shan Li, Xinwei Zhou, Haoqian Feng, Kangbo Huang, Minyu Chen, Mingjie Lin, Hansen Lin, Zebing Deng, Yuhang Chen, Wuyuan Liao, Zhengkun Zhang, Jinwei Chen, Bohong Guan, Tian Su, Zihao Feng, Guannan Shu, Anze Yu, Yihui Pan, Liangmin Fu   +18 more
wiley   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 more
wiley   +1 more source

Frizzled Proteins are bona fide G Protein-Coupled Receptors [PDF]

, 2009
Receptors of the Frizzled family initiate Wnt ligand-dependent signaling controlling multiple steps in organism development and highly conserved in evolution. Misactivation of the Wnt/Frizzled signaling is cancerogenic.
Silke Buestorf, Vladimir L. Katanaev
core   +1 more source

Interaction of TFAP2A with the Ku70/80 complex is crucial for HIF‐dependent activation of hypoxia‐inducible genes

The FEBS Journal, EarlyView.
Under normoxic conditions, the SUMOylated fraction of TFAP2A cannot interact with the Ku70/Ku80 complex, nor it can bind to chromatin. The unSUMOylated fraction pre‐occupies the chromatin of a subset of hypoxia‐induced genes together with the Ku70/Ku80 complex for basal euchromatin formation. Under hypoxic conditions, the SUMOylation equilibrium shifts
Amalia Kanoura, Antonis Giakountis, Chrysa Filippopoulou, Angeliki Karagiota, George Stamatakis, Martina Samiotaki, George Panayotou, George Simos, Georgia Chachami   +8 more
wiley   +1 more source

Coexistence of Wolbachia with Buchnera aphidicola and a secondary symbiont in the aphid Cinara cedri.

, 2004
Intracellular symbiosis is very common in the insect world. For the aphid Cinara cedri, we have identified by electron microscopy three symbiotic bacteria that can be characterized by their different sizes, morphologies, and electrodensities.
García-Verdugo, José Manuel, Gómez-Valero, Laura, Heddi, Abdelaziz, Latorre, Amparo, Moya, Andrés, Pérez-Brocal, Vicente, Soriano-Navarro, Mario   +6 more
core   +2 more sources

Crystal structure and biophysical characterisation of the enterococcal foldase PpiC, a cross‐opsonic antigen against gram‐positive nosocomial pathogens

The FEBS Journal, EarlyView.
PpiC is an enterococcal lipoprotein endowed with both Peptidyl‐prolyl cis‐trans isomerase (PPIase) and foldase activities. It is a potential target for novel antimicrobials and a promising vaccine antigen. We determined the crystal structure of the enzyme, showing that PpiC adopts a dimeric organisation embedding two catalytic parvulin‐type PPIase ...
Valeria Napolitano, Eliza Kramarska, Ornella Ghilardi, Felipe Romero‐Saavedra, Pompea Del Vecchio, Flavia Squeglia, Johannes Huebner, Rita Berisio   +7 more
wiley   +1 more source

European Guideline (EuroGuiDerm) on atopic eczema: Living update

Journal of the European Academy of Dermatology and Venereology, EarlyView.
The updated guideline includes a new evidence‐based recommendation for the IL‐13 inhibitor lebrikizumab. In addition, the Janus kinase inhibitors baricitinib and abrocitinib, which were initially only approved for adult patients, are now also recommended for children from the age of 2 and adolescents from the age of 12, respectively.
A. Wollenberg, M. Kinberger, B. Arents, N. Aszodi, S. Barbarot, T. Bieber, H. A. Brough, P. Calzavara‐Pinton, S. Christen‐Zaech, M. Deleuran, M. Dittmann, N. Fosse, K. Gáspár, L. A. A. Gerbens, U. Gieler, G. Girolomoni, S. Gregoriou, S. Holland, C. G. Mortz, A. Nast, U. Nygaard, E. M. Rehbinder, J. Ring, M. Rossi, E. Serra‐Baldrich, D. Simon, Z. Z. Szalai, J. C. Szepietowski, A. Torrelo, T. Werfel, R. N. Werner, C. Flohr   +31 more
wiley   +1 more source

TaSED interacts with TaSPA synergistically regulating SDS‐sedimentation volume in bread wheat

Journal of Integrative Plant Biology, EarlyView.
Wheat TaSED is a positive regulator of SDS‐sedimentation volume, an indicator of gluten strength and thus baking properties. TaSED interacts with the transcription factor TaSPA regulating wheat storage protein gene expression, altering protein composition and affecting SDS‐sedimentation volume, providing a valuable genetic resource for improving wheat ...
Shanshan Zhai, Runqi Zhang, Xinhao Meng, Guoyu Liu, Jiazheng Yu, Huanwen Xu, Hongyao Lou, Shidian Wen, Mingshan You, Chaojie Xie, Jie Liu, Zhongfu Ni, Qixin Sun, Baoyun Li   +13 more
wiley   +1 more source