Results 181 to 190 of about 554,004 (364)

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

X-linked hypophosphatemia (XLH) is a rare inherited disorder of renal phosphate wasting with a highly variable phenotype caused by loss-of-function variants in the PHEX gene.
Marc Pybus, Melissa Pilco-Teran, M. Alba Herreros, M. José García-Borau, Elisabet Ars, Roser Torra, Gloria Fraga, Mónica Furlano, Miriam Aza-Carmona   +8 more
core   +1 more source

Screening and epitope characterization of Nidogen‐2‐specific nanobodies

FEBS Open Bio, EarlyView.
Camel immunization and phage display were employed to generate high‐affinity VHH nanobodies against Nidogen‐2. After library construction, biopanning, ELISA screening, sequencing, and recombinant expression, selected nanobodies were purified and characterized, leading to the preliminary exploration of a nanobody‐based sandwich ELISA for specific ...
Jianchuan Wen, Qianqian Cui, Zhongyun Lan, Yingjun Wang, Shuaiying Zhao, Wenxuan Feng, Yunfeng Liu, Qiting Huang, Dongna Zhang, Jianfeng Xu   +9 more
wiley   +1 more source

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

FEBS Open Bio, EarlyView.
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu, Lanlan Li, Wenjuan Jia, Hanzhong Feng, Xiaoquan Yu, Youli Zhao, Fengzhi Yuan, Hui Ding, Junqiang Tian, Yong‐Xing He, Zhiping Wang   +10 more
wiley   +1 more source

Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Pediatrics, 2018
Janaki D Vakharia, K. Matlock, Helena O. B. Taylor, P. Backeljauw, L. Topor   +4 more
semanticscholar   +1 more source

Proteasomal degradation of intracellularly expressed Amblyomin‐X limits suicide gene therapy potential in melanoma cells

FEBS Open Bio, EarlyView.
This study explores the feasibility of expressing the antitumoral protein Amblyomin‐X through a suicide gene therapy approach and investigates its intracellular fate after gene delivery. Although the gene is efficiently expressed, melanoma cells rapidly degrade the Amblyomin‐X protein via proteasome activity.
Victor Dal Posolo Cinel, Carlos DeOcesano Pereira, Aline Ramos Maia Lobba, Melissa Regina Fessel, Ana Marisa Chudzinski‐Tavassi   +4 more
wiley   +1 more source

Combined 5‐aminolevulinic acid and ferric ammonium citrate treatment promotes hair follicle growth by activating dermal papilla cells

FEBS Open Bio, EarlyView.
5‐Aminolevulinic acid combined with ferric ammonium citrate (5‐ALA/FAC) stimulates dermal papilla cell activity and promotes hair follicle growth. The treatment enhances ERK and AKT signaling, increases hair‐inductive gene expression, and restores dermal papilla function suppressed by dihydrotestosterone and oxidative stress, resulting in enhanced hair
Han‐Wook Ryu, Eok‐Soo Oh, Sewoon Kim
wiley   +1 more source

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Journal of Allergy and Clinical Immunology, 2015
L. Charbonnier, E. Janssen, J. Chou, Toshiro K. Ohsumi, S. Keleş, Joyce T. Hsu, M. Massaad, M. Garcia-Lloret, Rima Hanna-Wakim, G. Dbaibo, Abdullah A. Alangari, Abdulrahman Alsultan, D. Al-Zahrani, R. Geha, T. Chatila   +14 more
semanticscholar   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source