Results 111 to 120 of about 176,213 (311)

A missense mutation makes a mess of Ca2+ sensing [PDF]

Journal of General Physiology, 2017
A new JGP study shows how a disease-causing mutation in RyR2 dramatically alters channel behavior.
openaire   +2 more sources

Understanding and Overcoming Antibody‐Drug Conjugate Resistance: Biological Mechanisms and Emerging Analytical Frameworks in Breast Cancer

Advanced Science, EarlyView.
Antibody–drug conjugates (ADCs) transform breast cancer therapy, yet resistance limits their durability. Emerging evidence reveals that ADC failure is not solely tumor‐intrinsic but shaped by dynamic tumor–microenvironment interactions that alter drug delivery, processing, and response.
Minji Seo, Jangsoon Lee, Naoto T. Ueno
wiley   +1 more source

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model

Advanced Science, EarlyView.
A TP53‐specific predictor, CaVepP53, is developed by fine‐tuning ESMC on experimentally validated variants, quantifying pathogenicity via Euclidean distances. It outperforms general‐purpose models and extends to five cancer genes, enabling interpretable variant classification for precision medicine.
Huiying Chen, Yang Zhao, Boqiang Hu, Wuke Wang, Minfang Song, Annabeth Xinyu Zhao, Xiangyang Li, Gefei Wang, Yanfen Wang, Weiyan Zheng, Xinpeng Zhang, Xia Lin, Yanbin Yin, Xingxu Huang, Jinfang Zheng, Tingbo Liang   +15 more
wiley   +1 more source

Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng   +6 more
doaj   +1 more source

Az öröklött és szerzett kataláz hiány klinikai és klinikai biokémiai vonatkozásai = Clinical and biochemical consequences of inherited and acquired forms of catalase deficiency

, 2007
A hidrogénperoxid az élőszervezetekre gyakorolt oxidatív, toxikus hatásáról volt ismert, míg szerepe az újabb irodalmi adatok alapján átértékelődött.
Góth, László, Tarnai, Ildikó, Sükei, Eszter, Imre, Sándor   +3 more
core  

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

Analyse der transkriptionellen Regulation des humanen endogenen Retrovirus HTDV/HERV-K

, 2004
Das humane Genom besteht zu etwa 8% aus retroviralen Sequenzen. Davon sind ca. 1-2% dem humanen endogenen Retrovirus K (HERV-K) zuzuordnen. Das Virus ist mit ca. 30-50 Proviren und ca. 10.000 sLTRs im humanen Genom vertreten.
Kraft, Martin
core  

β‐Adrenergic Signaling Promotes Anti‐Tumor Immunity in TP53‐mutant Oral Squamous Cell Carcinoma

Advanced Science, EarlyView.
β‐adrenergic stimulation enhances anti‐tumor immunity in TP53‐deficient oral squamous cell carcinoma by inducing tumor‐derived secretion of CXCL10, which attracts and activates cytotoxic CD8+ T cells. The findings demonstrate that β‐adrenergic signaling alters tumor–immune interactions via CXCL10‐mediated paracrine activation, revealing a neuro‐immune ...
Frederico O. Gleber‐Netto, Deborah Silverman, Tongxin Xie, Shamima Akhter, Nicole R. Vaughn, Adewale Adebayo, Kala Chand Debnath, Shorook Naara, Shajedul Islam, Erik Knutsen, Emily Lorin Ashkin, Simone Anfossi, Sara Leahey, Patrick Hwu, Sebastien Talbot, Erica K Sloan, Robert Saddawi‐Konefka, Roberto Rangel, Jeffrey N. Myers, George A. Calin, Moran Amit   +20 more
wiley   +1 more source

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta [PDF]

, 2009
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits ...
Becker, Doreen, Fehr Michael, Becker Doreen, Fehr, Michael, Cord Drögemüller, Lindblad-Toh Kerstin, Ulrich Baumann, Kircher Patrick, Kircher, Patrick, Patrick Kircher, Leeb Tosso, Michael Fehr, Kircher, Patrick Robert, Adrian Brunner, Bianca Haase, Tosso Leeb, Brunner Adrian, Brunner, Adrian, Seeliger Frank, Baumann Ulrich, Kerstin Lindblad-Toh, Frank Seeliger, Drögemüller Cord, Drögemüller, Cord, Leeb, Tosso, Seeliger, Frank, Doreen Becker, Haase Bianca, Lindblad-Toh, Kerstin, Kircher, Patrick R; https://orcid.org/, Baumann, Ulrich, Haase, Bianca, Lindblad-Toh, Kerstin,   +32 more
core   +1 more source

Decoding IGLL5 Mutation‐Mediated BCR Signaling: A Novel Mechanism of CD8+ T Cell Exhaustion and Ocular MALT Lymphoma Progression

Advanced Science, EarlyView.
OAML harbors recurrent IGLL5 mutations that reinforce CD79A/CD79B‐associated BCR signaling. Mechanistic analysis of the S47G and A54G variants reveals induction of CXCL10/CXCL11, enhanced CD8+ T‐cell recruitment, and exhaustion‐associated dysfunction, supporting an immune‐tolerant niche.
Andi Zhao, Haoyu Wei, Chenyu Zhou, Xinping Sun, Shuyan Da, Haiyu Liu, Zijin Wang, Hui Zhu, Shiya Shen, Qing Shao, Qi Gong, Hu Liu, Xuejuan Chen   +12 more
wiley   +1 more source