Results 101 to 110 of about 37,969 (302)

A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy [PDF]

, 2016
Raúl E. Piña-Aguilar, Miguel Ángel Regalado-Hernández, Jesús Daniel Moreno-García, Beatriz Buentello‐Volante, Oscar F. Chacón‐Camacho, Mayra Celina Gallegos‐Rivas, Ekaterina Kazákova, Yuritzi Santillán-Hernández, Juan Carlos Zenteno   +8 more
openalex   +1 more source

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy

, 2022
Madoka Mori‐Yoshimura, Kazutaka Aizawa, Yoko Shigemoto, Naoko Ishihara, Narihiro Minami, Ichizo Nishino, Sumiko Yoshida, Noriko Sato, Yuji Takahashi   +8 more
openalex   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, EarlyView.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

A Biomarker‐Driven Ovary–Endometrium Organ‐on‐a‐Chip Mimicking 3D Multicellular Complexity and Menstrual Cyclicity for Predicting Reproductive Toxicity

Advanced Science, EarlyView.
We present a dual‐organ, biomarker‐integrated ovaryendometrium organ‐on‐a‐chip that recapitulates 3D tissue complexity, menstrual cycle dynamics, and hormonal crosstalk. This platform enables real‐time, cell‐typespecific fluorescent readouts of reproductive toxicity using ANGPTL4 and SERPINB2 as early‐response reporters.
Soo‐Rim Kim, Eun‐kyung Min, Choon‐Mi Lee, Chan Hum Park, Byung‐Chul Oh, YunJae Jung, In‐Sun Hong   +6 more
wiley   +1 more source

A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197-1

Stem Cell Research
Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked degenerative disorder of the neuromuscular system that is caused by an expanded CAG/polyglutamine (polyQ) tract within the Androgen Receptor (AR) gene.
Indri Erliandri, Agamjot Sangotra, Laura Keller, Andrew P. Lieberman, Gary D. Smith   +4 more
doaj   +1 more source

FSTL1 Orchestrates Metabolic‐Epigenetic Crosstalk: Glycolysis‐Dependent H3K18 Lactylation Drives Cartilage Fibrosis in Osteoarthritis

Advanced Science, EarlyView.
FSTL1 promotes glycolysis during chondrocyte fibrosis by triggering the HIF‐1 signaling pathway, which causes lactate to accumulate. The buildup of lactate leads to changes in histone lysine lactylation, which in turn enhances the expression of genes associated with fibrosis.
Feng Lu, Yunyuan Yu, Guangrong Yin, Huiqun Hu, Shishuo Li, Yuting Tang, Yimin Liu, Maoyuan Li, Liang liang Wang, Chao Xu, Gongyin Zhao, Baojun Zhou, Yuji Wang   +12 more
wiley   +1 more source

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants

Heliyon
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy.
Xiaojing Yin, Jinghe Shi, Daoqi Mei, Jianmei Guo, Tingting Ma, Yuna Gao, Li Wang, Jie Deng   +7 more
doaj   +1 more source

Microglial HVCN1 Deficiency Improves Movement and Survival of SOD1G93A ALS Mice by Enhancing Microglial Migration and Neuroprotection

Advanced Science, EarlyView.
Hydrogen voltage gated channel 1 (HVCN1) is upregulated in microglia of both ALS patients and its mouse model. HVCN1 deficiency enhances microglial migration via suppressing Akt signaling, promotes neurotrophic capacity and motor function, and prolongs survival of the SOD1G93A ALS mice. This study identifies HVCN1 as a novel, promising druggable target
Fan Wang, Ke‐Yu Zhang, Lang‐Jian Zhu, Wei‐Jue Li, Yang Wu, Xiang Gao, Xiao‐Ru Ma, Xiu‐Hua Yin, Jian‐Bin Wu, Xiao‐Kang Ye, Zhao‐Jun Dong, Di‐Xian Wang, Zhe Zhou, Shao‐Dong Wang, Lei Han, Zhi‐Nong Jiang, Jing‐Wei Zhao   +16 more
wiley   +1 more source

Loss of SOCS1 in Donor T Cells Exacerbates Intestinal GVHD by Driving a Chemokine‐Dependent Pro‐Inflammatory Immune Microenvironment

Advanced Science, EarlyView.
T cell‐specific Socs1 knockout leads to inflammatory differentiation of CD8+ T cells, prompting the STAT1/2 complex to drive the activation of Ccl5, Ccr5, and Cxcr3, and promoting the skewing of monocytes toward a pro‐inflammatory M1 macrophage lineage.
Zhigui Wu, Bixia Wang, Xinya Jiang, Fangqing Zhang, Qianqian Huang, Xinyi Wu, Shuang Fan, Qi Zhang, Jingrui Zhou, Jianing Tang, Xiao‐Dong Mo, Yu Wang, Ying‐Jun Chang, Huidong Guo, Xiao‐Jun Huang   +14 more
wiley   +1 more source

User perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study. [PDF]

BMC Psychol, 2019
de Wit J, Vervoort SCJM, van Eerden E, van den Berg LH, Visser-Meily JMA, Beelen A, Schröder CD.   +6 more
europepmc   +1 more source