Results 151 to 160 of about 30,958 (250)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Photoactivated Platinum Complexes: Targeting Membrane Proteins and Organelles for Precision Cancer Therapy

Angewandte Chemie, EarlyView.
This review highlights an emerging anticancer approach integrating platinum agents into photodynamic therapy (PDT) and photoactivated chemotherapy (PACT) systems, further augmented by cancer cell membrane‐ and organelle‐targeting. By directing photoactivated platinum complexes from nontargeted distribution to cancer cells or defined subcellular sites ...
Shu Chen, Qiyuan Zhou, Jiaqian Xu, Guangyu Zhu   +3 more
wiley   +2 more sources

Stepwise construction of the path to doubled haploid breeding in sorghum. [PDF]

Sci Adv
Sui Y, Sun Y, Cheng Z, Li Y, Li K, Zhang X, Yin T, Yang S, Li G, Liu M, Tang S, Wu C.   +11 more
europepmc   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

Broad‐Spectrum, Cell Envelope‐Active Marinocyclin Antibiotics From a Coral‐Derived Bacterium Are Effective Against Colistin‐Resistant Bacteria

Angewandte Chemie, EarlyView.
Marinocyclins, polycationic macrocyclic depsipeptides, were discovered by genome mining from the marine coral‐derived bacterium Aquimarina megaterium. The compounds have broad‐spectrum activity against gram‐positive and gram‐negative ESKAPE bacteria.
Clara Chepkirui, Sandra Silva, Jan Straetener, Chandrashekhar Padhi, Tina Keller‐Costa, Tess Lamer, Laura Reinke, Heike Brötz‐Oesterhelt, Rodrigo Costa, Jörn Piel   +9 more
wiley   +2 more sources

In vitro induction of tetraploids and their morphological and phenolic acid content in Cnidium officinale. [PDF]

BMC Plant Biol
Jeong HY, Kim JA, Son HJ, Kang JW.
europepmc   +1 more source

Chrysin attenuates diabetes‐induced retinal injury by inhibiting microglial GBP3/NLRP3/GSDMD‐mediated pyroptosis

Animal Models and Experimental Medicine, EarlyView.
We investigated the therapeutic potential and mechanism of chrysin in experimental diabetic retinal disease. Using a streptozotocin (STZ)‐induced diabetic mouse model and high‐glucose‐stimulated BV2 microglia, we revealed chrysin‐responsive pyroptosis‐associated signatures and identified GBP3 as a regulated node.
Qun Liu, Song‐min Wang, Xuan Chen, Yi‐rao You, Chen‐jiao Guo, Chang‐qin Xie, Lu‐lu Wang, Qi Liu, Lan Zhang, Jun‐tao Yang   +9 more
wiley   +1 more source

A DNA G‐Quadruplex‐Targeting Ligand Suppresses c‐MYC Expression: Implications for Gemcitabine‑Resistant Pancreatic Cancer

Angewandte Chemie, EarlyView.
PQB‐4, a fluorescent small‐molecule ligand that targets c‐MYC DNA G‐quadruplexes (G4s), showed marked synergy with gemcitabine in resistant PANC‐1 cells (CI = 0.027). In vivo, the ligand reduced tumor weight by 44% in a PANC‐1 xenograft model. These results highlight the therapeutic potential of c‐MYC DNA G4‐targeting ligands for treating gemcitabine ...
Bo‐Xin Zheng, Ya‐Kun Wang, Ze‐Xin Chen, Yi‐Wen Meng, Meng‐Ting She, Jia‐Peng Dong, Yingying Zheng, Yao‐Xun Zeng, Wen‐De Zheng, Wei Long, Wing‐Leung Wong   +10 more
wiley   +2 more sources

Engineered 3D Fibronectin‐Based Environments Modulate the Pathogenic Profile of Arthritic Synovial Fibroblasts

Advanced NanoBiomed Research, EarlyView.
Fibroblast behavior is shaped by the surrounding microenvironment, yet conventional culture systems often fail to capture disease‐relevant phenotypes. Here, platform‐dependent responses of healthy and arthritic synovial fibroblasts are examined across 2D and 3D culture systems. Distinct inflammatory and proliferative signatures emerge, highlighting how
Aneesah Khan, Piaopiao Pan, Yanling Lan, Çağlar Çi̇l, Julia Isakova, Yilin Wang, Theodora Rogkoti, Thanutchaporn Sartyoungkul, James F. C. Windmill, Jonathan William, Manuel Salmeron‐Sanchez, Margaret H. Harnett, Oana Dobre, Miguel A. Pineda   +13 more
wiley   +1 more source