Results 141 to 150 of about 1,871,213 (304)

Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect?

Life
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe,
Roberta Romano, Francesca Cillo, Laura Grilli, Alessio Ciaccio, Lorenzo Bufalo, Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Emilia Cirillo, Giancarlo Blasio, Marika Comegna, Carmela Di Domenico, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino   +14 more
doaj   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Statistical Mechanical Mapping and Maximum-Likelihood Thresholds for the Surface Code under Generic Single-Qubit Coherent Errors

PRX Quantum
The surface code, one of the leading candidates for quantum error correction, is known to protect encoded quantum information against stochastic, i.e., incoherent errors.
Jan Behrends, Benjamin Béri
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Interleukin‐1α Mediates Pancreatic Fibroblast Activation, Regulates Immune Cell Recruitment and Fibrosis in Acute and Chronic Pancreatitis

Advanced Science, EarlyView.
During pancreatitis, IL‐1α is released from necrotic acinar cells. In response to IL‐1α, pancreatic fibroblasts release chemokines and cytokines that regulate the recruitment of immune cells to the damaged organ. Furthermore, IL‐1α primes fibroblasts, resulting in increased tissue fibrosis during chronic pancreatitis.
Hala Mazloum, Shenja Buchholz, Hanna Schifter, Sabine Ameling, Leif Steil, Ben Lewin Becker, Elke Hammer, Georg Homuth, Uwe Völker, Barbara M. Bröker, Lukas Zierke, Frank Ulrich Weiss, Juliane Glaubitz, Matthias Sendler   +13 more
wiley   +1 more source

Antigen‐Detected NMR for Minimal Epitope Engineering and Structure‐Guided Selection of a NaV1.7‐Selective Nanobody

Advanced Science, EarlyView.
A minimal extracellular epitope from voltage‐gated sodium channel NaV1.7 was engineered into an isotope‐labelled antigen for antigen‐detected nuclear magnetic resonance (NMR). Together with AlphaFold2 (AF2), this enabled structure‐guided selection of R4C8, a human NaV1.7‐selective nanobody that labels fixed NaV1.7‐expressing cells and produces staining
Junyu Liu, Wanlin Chen, Ben Cristofori‐Armstrong, Theo Crawford, Kai‐En Chen, Peng Xie, Rainbow Wing Bo Chan, Yifei Zhu, Mimi Golder, Anneka Pereira Schmidt, Jennifer D. Naughton, Nicholas D. Condon, Åsa Andersson, Farhad Dehkhoda, Kirsten L. McMahon, Tabea Klasfauseweh, Ashvriya Thapa, Hue Tran, Poanna Tran, Sina Jami, Lotten Ragnarsson, Sebastian G. B. Furness, Jennifer R. Deuis, Brett M. Collins, Wai‐Hong Tham, Indira Prasadam, Irina Vetter, Mehdi Mobli   +27 more
wiley   +1 more source

TP53 Loss Elevates NF‐κB‐IFN‐β‐MHC‐Ia Signaling to Promote NK Cell Resistance in Osteosarcoma

Advanced Science, EarlyView.
TP53 loss in a transforming or osteosarcoma cell promotes cytosolic DNA accumulation, activating NF‐κB‐dependent IFN‐β production. Autocrine IFN‐β signaling increases cell‐surface HLA‐Ia expression, strengthens inhibitory KIR signaling in natural killer cells, and thereby enables the affected cell to evade NK cell‐mediated cytotoxicity.
Guihui Qin, Cheung Kwan Yeung, Ye Yi, Dejin Zheng, Miaoman Ye, Chi‐Chong Chio, Jinjie Wu, Siyi Fu, Chu‐Xia Deng, Ren‐He Xu   +9 more
wiley   +1 more source

A Facial Foundation Model for Clinical Biomarker Prediction and Real‐World Mobile Deployment

Advanced Science, EarlyView.
MedicalFaceFound is a facial foundation model developed through three‐stage progressive pre‐training, adapting representations from general vision to facial structure and clinical phenotypes. Using a single facial image, it estimates 62 biomarkers across multiple physiological systems and supports downstream risk prediction for cardiovascular ...
Tingfeng Xu, Huixuan Xu, Li Lin, Fei Wang, Yaodong Ding, Shuangqiao Liao, Xingyu Chen, Jichen Wen, Hongqiang Zhao, Jing Hao, Weixiang Zhao, Gong Zhang, Shiguang Shan, Yong Zeng, Hu Han, Minxian Wang   +15 more
wiley   +1 more source

Generalized number-phase lattice encoding of a bosonic mode for quantum error correction

Nature Communications
Bosonic systems offer unique advantages for quantum error correction, as a single bosonic mode provides a large Hilbert space to redundantly encode quantum information.
Dong-Long Hu, Weizhou Cai, Chang-Ling Zou, Ze-Liang Xiang   +3 more
doaj   +1 more source

Stimulation of OGG1 Enhances Oxidative DNA Damage Repair and Protects Against Acute Liver Failure by Acetaminophen

Advanced Science, EarlyView.
Chemical switching of OGG1 by CMM‐98 accelerates oxidative DNA damage repair and enhances hepatocyte resilience during acetaminophen‐induced acute liver injury. By promoting efficient processing of OGG1‐generated repair intermediates, CMM‐98 reduces oxidative damage, preserves cellular integrity, and protects against acute liver failure, identifying ...
Zhenjun Zhao, Rahul Upadhyay, Alice Eddershaw, Chenchen Wang, Yudong Zhao, Olov Wallner, Jinhye Ryu, Nayere Taebnia, Heather Gildie, Emma Scaletti‐Hutchinson, Jonathan R. Davies, Nicole Ziegler, Andreas Krämer, Samantha C. Robinson, Marek Varga, Karolina Singerova, Zuzanna Szaruga, Elisée Wiita, İrşil Güneş, Sheila S. David, Stefan Knapp, Aimo Kannt, Miguel de Vega, Pål Stenmark, Volker M Lauschke, Maurice Michel   +25 more
wiley   +1 more source