Results 191 to 200 of about 450,494 (340)

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Neural stimulation suppresses mTORC1-mediated protein synthesis in skeletal muscle. [PDF]

Sci Adv
Dumitras AG, Piccoli G, Tellkamp F, Keufgens L, Baraldo M, Zorzato S, Cussonneau L, Nogara L, Krüger M, Blaauw B.   +9 more
europepmc   +1 more source

Rhythmic activity in skeletal muscle fibres

, 1933
E. D. Adrian, Samuel Gelfan
openalex   +2 more sources

Autocrine GDF10 Inhibits Hepatic Stellate Cell Activation via BMPR2/ALK3 Receptor to Prevent Liver Fibrosis

Advanced Science, EarlyView.
Liver fibrosis is a growing global health burden with no specific treatment. HSC activation is the predominant driver of liver fibrogenesis and the current focus in antifibrotic drug discovery. This study identifies autocrine GDF10 activates BMPR2/ALK3‐SMAD1/5/8‐SMAD7 pathway to counteract the TGF‐β‐SMAD2/3 pathway in HSCs, thereby inhibiting HSC ...
Yinliang Zhang, Xiaochen Gai, Yuhui Li, Zuoyu Chen, Xi Zhang, Wei Qiao, Ping Qiu, Chunyuan Du, Sufang Sheng, Jingran Hao, Yujie Zhang, Heng Fan, Xiaorong Li, Ming Liu, Jun Zhang, Zhe Pan, Yongsheng Chang   +16 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

The Regulatory Role of CircAGGF1 in Myogenic Differentiation and Skeletal Muscle Development. [PDF]

Animals (Basel)
Hei W, Gong Y, Cai W, Li R, Chen J, Zhang W, Ji M, Li M, Yang Y, Cai C, Guo X, Li B.   +11 more
europepmc   +1 more source

Polymer Brush‐Based Asymmetric Porous Patch with Excellent Anti‐Bacterial and Anti‐Contamination Properties Enables Infectious Abdominal Wall Defect Repair

Advanced Science, EarlyView.
A zwitterionic asymmetric patch is developed via self‐induced phase separation. The cationic layer exhibits anti‐bacterial efficacy and releases pro‐healing factor, while the zwitterionic hydrogel prevents contamination and visceral adhesion. The strong mechanical interlocking of two layers leads to a high and stable burst pressure tolerance.
Zeping Huang, Weiwen Liang, Binying Peng, Yang Ouyang, Zixin Chen, Mawsoom Mamut, Zhipeng Huang, Hui Wang, Rongkang Huang, Bo Ma, Bingna Zheng, Jian Cai   +11 more
wiley   +1 more source

Mitochondrial Maintenance in Skeletal Muscle. [PDF]

Cold Spring Harb Perspect Biol
de Smalen LM, Handschin C.
europepmc   +1 more source

The inhibition of skeletal-muscle fructose 1,6-diphosphatase by adenosine monophosphate [PDF]

, 1967
LH Opie, E. A. Newsholme
openalex   +1 more source

IL‐33‐Induced TREM2+ Macrophages Promote Pathological New Bone Formation Through CREG1‐IGF2R Axis in Ankylosing Spondylitis

Advanced Science, EarlyView.
This study identifies TREM2+ macrophages as key contributors to pathological bone formation in ankylosing spondylitis (AS). These macrophages mediate pathological new bone formation via the CREG1‐IGF2R‐PI3K‐AKT pathway and are regulated by IL‐33 through STAT6 phosphorylation.
Wenjun Hao, Siwen Chen, Hua Chao, Zihao Li, Hao Yang, Dongying Chen, Sifang Li, Shuai Zhang, Jingyu Zhang, Jianru Wang, Zemin Li, Xiang Li, Zhongping Zhan, Tangming Guan, Yiwen Zhang, Wende Li, Hui Liu   +16 more
wiley   +1 more source