Results 61 to 70 of about 23,382 (212)

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish

Scientific Reports
Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Shao-Wei Pan, Horng-Dar Wang, He-Yun Hsiao, Po-Jui Hsu, Yung-Che Tseng, Wen-Chen Liang, Yuh-Jyh Jong, Chiou-Hwa Yuh   +7 more
doaj   +1 more source

Promoter Hypermethylation‐Induced Silencing of FXYD1 Drives Breast Cancer Metastasis via DDX5‐Mediated Wnt/β‐Catenin Pathway Activation

Advanced Science, EarlyView.
This study identifies FXYD1 as an epigenetically silenced tumor suppressor in breast cancer. DNA methylation turns off the gene FXYD1 in breast cancer, and low levels predict worse outcomes. Restoring FXYD1 limits breast cancer cells proliferation and metastasis. In the nucleus, FXYD1 recruits the E3 ligase MAEA to K63‐ubiquitinate DDX5 for proteasomal
Ping Wen, Fanli Qu, Long Wang, Qing Shao, Sisi Li, Yang Qin, Dongping Jiang, Senmiao Zhang, Jiangdong Sui, Guanwen Wang, Ningning Zhang, Xiaohua Zeng   +11 more
wiley   +1 more source

Mechanoadaptation via Myosin Cytoplasmic Redistribution Protects Circulating Tumor Cells From Shear‐induced Death During Hematogenous Dissemination

Advanced Science, EarlyView.
This study investigates how CTCs survive varying shear stress during hematogenous metastasis. We uncover a self‐protection mechanism, by which non‐adherent CTCs adapt to high shearing milieu through accumulated cytoplasmic myosin‐mediated disruption of myosin‐actin binding, attenuating force transmission into chromatin to protect CTCs from shear ...
Cunyu Zhang, Qianchun Wang, Keming Li, Guanshuo Hu, Ying Xin, Kai Tang, Bing Hu, Pengyu Du, Renwei Mao, Baohua Ji, Youhua Tan   +10 more
wiley   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, EarlyView.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

BCFA: Bespoke Control Flow Analysis for CFA at Scale

, 2020
Many data-driven software engineering tasks such as discovering programming patterns, mining API specifications, etc., perform source code analysis over control flow graphs (CFGs) at scale.
Benjamin Livshits V., Bourdoncle François, Cobleigh Jamieson M., Dyer Robert, Dyer Robert, Lam Patrick   +5 more
core   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism [PDF]

, 2018
C.L.-O. is supported by grants from the European Union (ERC-2016-ADG, DeAge); Ministerio de Economía y Competitividad (MINECO/FEDER: SAF2014-52413-R and SAF2017-87655-R); Instituto de Salud Carlos III (RTICC); Progeria Research Foundation (PRF2016-66 ...
Bárcena Fernández, Clea, Durand, S., Fernández García, María Teresa, Garabaya Fernández, Cecilia, Kroemer, Guido, López Otín, Carlos, Mariño García, Guillermo, Mayoral García, Pablo, Menéndez Caravia, Xurde, Moral Quirós, Pedro, Pérez Freije, José María, Rodríguez, Francisco   +11 more
core   +3 more sources

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

Терапевтический архив, 2015
Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis
E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov   +3 more
doaj  

Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

Biochemistry and Biophysics Reports, 2020
Cardiomyopathy caused by A-type lamins gene (LMNA) mutations (LMNA cardiomyopathy) is associated with dysfunction of the heart, often leading to heart failure. LMNA cardiomyopathy is highly penetrant with bad prognosis with no specific therapy available.
Blanca Morales Rodriguez, Alejandro Domínguez-Rodríguez, Jean-Pierre Benitah, Florence Lefebvre, Thibaut Marais, Nathalie Mougenot, Philippe Beauverger, Gisèle Bonne, Véronique Briand, Ana-María Gómez, Antoine Muchir   +10 more
doaj   +1 more source