Results 151 to 160 of about 378,998 (299)

Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital

Annals, Academy of Medicine, Singapore
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, Dan Thu Van, Jia Ming Low, Furene Wang, Benedict Yan, Stacey KH Tay, Hui-Lin Chin   +8 more
doaj   +1 more source

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Spinal and bulbar muscular atrophy in a patient with Parkinson's disease - Case report. [PDF]

Clin Park Relat Disord
Grotemeyer A, Rösch J, Winkler J, Regensburger M.   +3 more
europepmc   +1 more source

Modulating Calcium Homeostasis via a Biomimetic Scaffold to Rescue Diabetic Ischemic Wounds

Advanced Science, EarlyView.
This strategy addresses impaired microcirculation and loss of extracellular matrix (ECM) guidance in diabetic wound healing. Musc@CP, a nanofibrous dressing combining an ECM‐mimetic chitosan‐pullulan scaffold with muscone, enhances perfusion by attenuating intracellular Ca2+ overload‐associated endothelial dysfunction.
Xiang Zheng, Mingmei Li, Jianjun Jiang, Yongchao Wang, Yaru Jia, Weilun Sun, Yi Yao, Pengli Gao, Linhua Zhang, Qi Guo, Guang Jia, Xing‐Jie Liang, Dunwan Zhu, Jinchao Zhang, Fangzhou Li   +14 more
wiley   +1 more source

Humanistic and Economic Burden of Spinal Muscular Atrophy in the Gulf Region. [PDF]

Cureus
Elezbawy B, Abaza S, Alnajjar A, Alabdulkarim H, Al-Omar HA, Fahmy S, Aldallal S, Ágh T, Fasseeh A.   +8 more
europepmc   +1 more source

A Blood‐Derived Factor Rescues ALS: Platelet Factor 4 Activates OPTN‐Dependent Autophagy to Clear SOD1 Aggregates Independently of PINK1

Advanced Science, EarlyView.
Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie, Yanbo Zhu, Wenhua Jiang, Haobo Xie, Yaojia Li, Mengjie Hu, Kezheng Li, Huan Yu, Yixuan Pan, Chaoyi Jiang, Xueqin Song, Dongsheng Fan, Binbin Deng   +12 more
wiley   +1 more source

YAP1‐Driven Pathogenic Fibro‐Adipogenic Progenitors Secrete IL‐6 and FGF21 to Mediate Muscle‐Bone Crosstalk and Promote Bone Loss

Advanced Science, EarlyView.
Fibro‐adipogenic progenitors (FAPs) in atrophic muscle undergo YAP1‐driven pathogenic activation, secreting IL‐6 and FGF21 as bone‐catabolic myokines that mediate muscle‐bone crosstalk and promote bone loss. Genetic or pharmacological targeting of this YAP1‐FAP‐myokine axis rescues skeletal deterioration, identifying FAP‐derived myokines as therapeutic
Xiaoyu Cai, Tao Xu, Rui Ma, Weikun Meng, Shutao Gao, Yakefu Abulizi, Alafate Kahaer, Chuanhui Xun, Maierdan Maimaiti, Rui Cao, Weidong Liang, Polati Maimaiti, Qiang Deng, Jun Sheng, Ting Wang, Mingchong Liu, Weibin Sheng   +16 more
wiley   +1 more source

Multi-Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis. [PDF]

J Cell Mol Med
Wang Z, Zhao J, Huang X, Chen W, Shen J.
europepmc   +1 more source

Renal Tubular Epithelial CRLF1 Interacts With ITGB1 to Accelerate Fibrosis During the Transition From AKI to CKD

Advanced Science, EarlyView.
During renal fibrosis, SMAD3 acts as a transcription factor for CRLF1, promoting its expression and secretion. CRLF1 then binds to ITGB1 via an autocrine mechanism, activating the PI3K‐AKT signaling pathway to mediate renal fibrosis. This accelerates the progression from AKI to CKD, highlighting the therapeutic potential of targeting CRLF1 for ...
Chunjie Wang, Yan Zhang, Fang Bai, Shankui Qian, Feng Feng, Fangyi Lu, Jiahui Fan, Kuipeng Yu, Xiangdong Yang   +8 more
wiley   +1 more source