Results 61 to 70 of about 90,557 (301)

Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T)

Stem Cell Research, 2023
A human induced pluripotent stem cell line (iPSC), FDCHi010-A, was derived from the peripheral blood of a 3-year-old patient with the c.2062C > T (p.R688*) mutation in the AHDC1 gene.
Tingting Yin, Bingbing Wu, Ting Peng, Yunfei Liao, Shuangyun Jiao, Huijun Wang   +5 more
doaj   +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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

Advanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing, Jingfen Huang, Qiaoling Yuan, Ziyi Yang, Yanyan Wang, Mingchao Zhao, Yamin Nie, Rui Xu, Hongge Qian, Wenxi Chen, Qiaoling Zhang, Qi Du, Leiyue Geng, Yapeng Li, Ziyi Chen, Shizhuang Wang, Like Lou, Haiyuan Peng, Chongke Zheng, Xianzhi Xie, Xiaoming Zheng, Lifang Zhang, Lianguang Shang, Jiaqiang Sun, Qian Qian, Qingwen Yang, Weihua Qiao   +26 more
wiley   +1 more source

Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Stem Cell Research, 2023
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene.
Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger   +6 more
doaj   +1 more source

Canagliflozin Alleviates Diabetic Glomerular Endothelial Injury via Melibiose in a Microbiota‐Dependent Manner

Advanced Science, EarlyView.
Canagliflozin treatment reshapes the gut microbiota in DKD and elevates levels of melibiose, a metabolite derived from Roseburia intestinalis. Melibiose directly binds to and enhances the enzymatic activity of glyoxalase 1, leading to decreased methylglyoxal accumulation.
Wei Zhang, Yi Song, Changkun Li, Yuanyuan Luo, Mingwei Shao, Feng Guo, Fangyi Wei, Xunjie Fan, Wenwen Guo, Fengmei Xu, Yanhong Sang, Dongming Zhang, Yanhong Zhou, Lianwei Wang, Zhiqiang Kang, Yingjun Yang, Chunhua Song, Yanxia Liu, Xiaojun Ma, Jiao Wang, Chong Li, Shengnan Ma, Lin Zhao, Zhi Qin, Guolan Xing, Qiubo Zhao, Jun Li, Shumin Song, Dan Zhao, Ting Huang, Qingzhu Wang, Yanyan Zhao, Guijun Qin   +32 more
wiley   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Generation and characterization of iPS cell line (SYSUSHi002-A) from PBMCs of an AML patient with TP53 mutation

Stem Cell Research, 2023
We have generated an iPSCs line (IPS-AML2-C3, SYSUSHi002-A) from AML cells of a 71-year-old male Acute Myeloid Leukaemia patient with TP53 gene mutation (TP53: c.824G > A, p.Cys275Tyr) using episomal plasmids encoding the factors OCT4, SOX2, KLF4, L-MYC ...
Lihua Yuan, Yaqun Wang, Rongli Xie, Dongjun Lin, Xiaobo Wang   +4 more
doaj   +1 more source

PSMA8‐Containing 20S Proteasome Regulates Spermiogenesis and Male Fertility

Advanced Science, EarlyView.
PSMA8 assembles s20S proteasome that degrades specific substrates in elongating spermatids. Degradation of s20S‐substrates activates translation of FXR1‐target mRNAs, which are essential for mitochondrial sheath formation and sperm morphogenesis.
Huiwen Cao, Qianting Zhang, Wei Xu, Anxuan Fang, Haomang Xu, Cheng Qiu, Lugeng He, Chao Yu   +7 more
wiley   +1 more source