Results 61 to 70 of about 879,135 (289)

Postoperative hypotonia

, 2020
Purpose To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known.
김동석, 심규원, 박은경
core   +1 more source

Image7_Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.TIF

, 2023
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Anne-Kathrin Lutz (11758967), Tobias M. Boeckers, Jürgen Bockmann, Jürgen Bockmann (522341), Medhanie Mulaw, Sarah Jesse (120792), Berra Yildiz (16935795), Lisa Schiedt, Tobias M. Boeckers (6829862), Lisa Schiedt (16935798), Berra Yildiz, Anne-Kathrin Lutz, Medhanie Mulaw (5944241), Sarah Jesse   +13 more
core   +1 more source

UCtracker: A Deep Learning–Based DNA Methylation Model for Noninvasive Diagnosis and Recurrence Surveillance of Urothelial Carcinoma in a Prospective Study

Advanced Science, EarlyView.
We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong, Gaojie Li, Yucai Wu, Yuan Liang, Heng Guo, Yu Zhang, Gengyan Xiong, Long Tian, Xin Zhang, Ye Tian, Zhengguo Ji, Bin Guo, Yue Shi, Jian Fan, Zhihua Li, Yanqing Gong, Shiming He, Xuesong Li, Weimin Ci, Liqun Zhou   +19 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

Stem Cell Research, 2022
Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness.
Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +13 more
doaj   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

Disease Models & Mechanisms, 2022
Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.
William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen   +4 more
doaj   +1 more source

Image6_Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.TIF

, 2023
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792), Berra Yildiz (16935795), Tobias M. Boeckers (6829862), Anne-Kathrin Lutz (11758967), Lisa Schiedt (16935798), Jürgen Bockmann (522341), Medhanie Mulaw (5944241)   +6 more
core   +1 more source

Dysregulation of the MACF1‐Rab14/KIF16B‐FGFR Vesicular Trafficking Axis Skews MSC Lineage Commitment in Glucocorticoid‐Induced Osteoporosis

Advanced Science, EarlyView.
Under normal conditions, MACF1 interacts with Rab14 and facilitates KIF16B‐mediated FGFR vesicle trafficking along microtubules to the plasma membrane, thereby supporting BMSC differentiation. In contrast, chronic GC exposure suppresses MACF1 expression, disrupting this transport and causing intracellular FGFR retention, which blunts osteogenic ...
Peihong Su, Ye Tian, Fan Zhao, Jing Li, Suryaji Patil, Chunyu Zhu, Yujia Tian, Junrong Wang, Jiating Liu, Aoqi Xiang, Hua Guan, Lusha Zhang, Xiaochang Chen, Airong Qian, Qi Yu   +14 more
wiley   +1 more source

Polysomnography Report for a Boy with TBC1D24 Mutation

Journal of Sleep Sciences, 2018
Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness
Khatereh Khamenehpour, Shabnam Jalilolghadr   +1 more
doaj