Results 11 to 20 of about 33,865 (165)

Desmin myopathy [PDF]

Brain, 2004
Desmin myopathy is a recently identified disease associated with mutations in desmin or alphaB-crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial, bulbar and respiratory muscles.
L G, Goldfarb, P, Vicart, H H, Goebel, M C, Dalakas   +3 more
openaire   +2 more sources

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria [PDF]

Human Molecular Genetics, 2003
Recent studies in desmin (-/-) mice have shown that the targeted ablation of desmin leads to pathological changes of the extrasarcomeric intermediate filament cytoskeleton, as well as structural and functional abnormalities of mitochondria in striated muscle. Here, we report on a novel heterozygous single adenine insertion mutation (c.5141_5143insA) in
Rolf, Schröder, Bertrand, Goudeau, Monique Casteras, Simon, Dirk, Fischer, Thomas, Eggermann, Christoph S, Clemen, Zhenlin, Li, Jens, Reimann, Zhigang, Xue, Sabine, Rudnik-Schöneborn, Klaus, Zerres, Peter F M, van der Ven, Dieter O, Fürst, Wolfram S, Kunz, Patrick, Vicart   +14 more
openaire   +4 more sources

Emergence of highly profibrotic and proinflammatory Lrat+Fbln2+ HSC subpopulation in alcoholic hepatitis

Hepatology, EarlyView., 2022
Lrat+ quiescent hepatic stellate cells (qHSC) give rise to Lrat+Fbln2+ activated HSC (aHSC) in alcohol‐associated hepatitis and this subpopulation is highly profibrotic, inflammatory, and immunoregulatory based on their single cell transcriptomic profile. Abstract Background and Aims Relative roles of HSCs and portal fibroblasts in alcoholic hepatitis (
Steven Balog, Reika Fujiwara, Stephanie Q. Pan, Khairat B. El‐Baradie, Hye Yeon Choi, Sonal Sinha, Qihong Yang, Kinji Asahina, Yibu Chen, Meng Li, Matthew Salomon, Stanley W.‐K. Ng, Hidekazu Tsukamoto   +12 more
wiley   +1 more source

Malignant/Sarcomatous Transformation of Mixed Epithelial and Stromal Tumor of the Kidney: A Case Report. [PDF]

IJU Case Rep
ABSTRACT Introduction Malignant transformation of mixed epithelial and stromal tumors of the kidney (MESTK) is extremely rare. Case Presentation A 39‐year‐old man with gross hematuria was suspected to have renal cell carcinoma, measuring 13 cm in diameter. No distant metastases were observed.
Arinami K, Ito K, Hasegawa G, Takizawa Y, Ikeda Y, Hara N, Nishiyama T.   +6 more
europepmc   +2 more sources

Pregnancy in Desmin-Related Cardiomyopathy [PDF]

American Journal of Perinatology Reports, 2015
The course of desmin-related restrictive cardiomyopathy (DRCM) during pregnancy has not been described previously because of the rarity of the condition. Following an episode of heart failure antecedent to conception, a 28-year-old primigravida with DRCM presented to establish prenatal care during the first trimester. Prenatal management consisted of β-
Arij Faksh, Elisabeth Codsi, Michel K. Barsoum, Brian C. Brost   +3 more
openaire   +3 more sources

Dilated Cardiomyopathy and the Desmin Gene [PDF]

Circulation, 2000
To the Editor: Li et al1 report a mutation screening study of actin and desmin genes in 44 probands with familial dilated cardiomyopathy (DCM) and conclude that a mutation of the desmin gene can cause DCM. We believe that the genetic data are not yet sufficient to justify this conclusion.
Mayosi, B, Blair, E, Watkins, H
openaire   +2 more sources

BIN1 and ALDH1B1 Deficiency in Colonic Smooth Muscle Drives Mitochondrial Dysfunction and Fibrosis in Slow‐Transit Constipation

Advanced Science, EarlyView.
Slow‐transit constipation (STC) is a disabling motility disorder with unclear smooth‐muscle mechanisms. Spatial proteomic analysis of STC patient colon reveals both the central pathogenic role of smooth muscle cells (SMCs) in STC and novel regulators of intestinal motility, BIN1 and ALDH1B1.
Jianbo Liu, Hao Zhang, Wenhao Qiao, Ran Liu, Jie Sun, Xiaopei Li, Qin Li, Dongbo Zhao, Dawei Chen, Jingxin Li, Shuxiao Dong   +10 more
wiley   +1 more source

Hepatoma‐Derived Growth Factor Coordinates STAT3 Pathway and Exosome‐Mediated Intrahepatic Crosstalk to Control Hepatic Steatosis and MASLD

Advanced Science, EarlyView.
Hepatic HDGF as a key mediator in coordinating hepatic steatosis and intrahepatic crosstalk in MASLD. Activation of HDGF facilitates its interaction with both STAT3 and S6K1, driving the S6K1‐dependent STAT3 phosphorylation and subsequently enhancing hepatic lipogenesis.
Jian Wen, Dong Ding, Zengpeng Zheng, Xufeng Chen, Wenjing Li, Jiaxin Shen, Zhiwei Huang, Peng Tan, Junjie Bai, Xia Fang, Baofang Xing, Puyuan Hu, Linghao Xu, Haokai Yu, Yixi Wang, Zongzhe Jiang, Yang Long, Tiejun Zhou, Mingxin Ye, Yu Jiang, Aoyuan Cui, Hong Li, Qiurong Ding, Yong Xu, Yu Li, Weitong Su, Feng Shen, Chenlin Gao, Wenguang Fu   +28 more
wiley   +1 more source

CK2α Deficiency Drives Myocardial Fibrosis via Desmin‐Induced Mitochondrial Dysfunction

Advanced Science, EarlyView.
CK2α preserves mitochondrial homeostasis by phosphorylating Desmin to recruit Cryab, ensuring proper filament assembly. CK2α deficiency disrupts this interaction, causing mitochondrial dysfunction, metabolic shifts, bioenergetic failure, and oxidative stress—ultimately establishing a pro‐fibrotic environment that drives cardiac fibrosis.
Canjie Ma, Jiali Jia, Juncong Lan, Jing Wang, Dan Rao, Lanlan Rao, Weibin Zhang, Dongpeng Wu, Jie Zhang, Gang Wang, Baohua Liu, Ying Ao, Zimei Wang   +12 more
wiley   +1 more source

Desmin and Cardiac Disease [PDF]

Circulation Research, 2018
Desmin, the intermediate filament protein in striated muscle, is an essential component of the striated muscle cell cytoskeleton. In muscle, the cytoskeleton is a multifunctional, dynamic, and complex structure that serves as a scaffold to maintain the structural integrity and architecture of the cardiomyocyte.
Sonia R, Singh, Jeffrey, Robbins
openaire   +2 more sources