Results 91 to 100 of about 2,742,983 (330)

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

D-shaped Left Ventricle, Anatomic, and Physiologic Implications [PDF]

, 2017
Right ventricular loading/pressure influences left ventricular function because the two ventricles pump in series and because they are anatomically arranged in parallel, sharing the common ventricular septum.
Cativo Calderon, E, Cativo, D, Mene-Afejuku, Tuoyo, Mushiyev, Savi, Reyes, H, Tripathi, D, Valvani, R   +6 more
core   +3 more sources

Depletion of Hepatic SREBP2 Protects Against Hypercholesterolemia and Atherosclerosis through the ANGPTL3‐LPL Axis

Advanced Science, EarlyView.
This study reveals a novel crosstalk between hepatic SREBP2‐mediated cholesterol biosynthesis pathway and peripheral lipoprotein lipase‐mediated lipolysis pathway in the regulation of systemic lipid metabolism. Notably, the lipid‐lowering effects of SREBP2 inhibition are independent of a functional LDL receptor, highlighting the potential of acute ...
Yifan Wang, Jia You Sarafina Choe, Yu Shi, Thi Tun Thi, Xiaoyun Cao, Yang Hu, Kai Yan Cheng, Hui Li, Yang Ji, Yan Liu, Matthew Ackers‐Johnson, Roger S.Y. Foo, Yujia Shen, Haojie Yu   +13 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

A contemporary comparison of the effect of shunt type in hypoplastic left heart syndrome on the hemodynamics and outcome at stage 2 reconstruction [PDF]

, 2007
ObjectiveWe compare the hemodynamics and perioperative course of shunt type in hypoplastic left heart syndrome at the time of stage 2 reconstruction and longer-term survival.MethodsWe retrospectively reviewed the echocardiograms, catheterizations, and ...
Ballweg, Jean A., Bird, Geoffrey L., Dominguez, Troy E., Gaynor, J. William, Gruber, Peter J., Kreutzer, Jacqueline, Marino, Bradley S., Nicolson, Susan C., Ravishankar, Chitra, Spray, Thomas L., Tabbutt, Sarah, Wernovsky, Gil   +11 more
core   +1 more source

Use of 3-dimensional printing to demonstrate complex intracardiac relationships in double-outlet right ventricle for surgical planning.

Circulation Cardiovascular Imaging, 2015
Double-outlet right ventricle falls under the category of congenital heart disease known as conotruncal defects, which possess abnormal ventriculoarterial relationships.1 For complex cases, the surgeon must determine whether the left ventricle and one of
K. Farooqi, J. Nielsen, S. Uppu, S. Srivastava, I. Parness, J. Sanz, K. Nguyen   +6 more
semanticscholar   +1 more source

Massage‐Mimicking Nanosheets Mechanically Reorganize Inter‐organelle Contacts to Restore Mitochondrial Functions in Parkinson's Disease

Advanced Science, EarlyView.
Parkinson's disease (PD) progression is aggravated by disrupted inter‐organelle contacts, which are influenced by mechanical forces. NanoMassage, 200 nm PEGylated black phosphorus nanosheets, deliver targeted mechanical stimulation to neural cells.
Tianqi Li, Liwen Huang, Chenxiao Guo, Jing Ren, Xi Chen, Yachu Ke, Zengyu Xun, Wenzhuo Hu, Yilin Qi, Heping Wang, Zhongying Gong, Xing‐Jie Liang, Xue Xue   +12 more
wiley   +1 more source

Quadrichambered ventricles [PDF]

, 2010
Double chambered is a term that has been used to describe the subdivision of a ventricle as a result of anomalous septum or muscle bundle. Subdivision of the left ventricular cavity is a rare cardiac anomaly compared to subdivision of the right ventricle.
Acikel, Sadik, Akdemir, Ramazan, Balci, Mustafa M., Karcaaltincaba, Musturay, Ozer, Cigdem   +4 more
core   +1 more source

KLF1 Promotes Cardiomyocyte Proliferation and Heart Regeneration Through Regulation of Wnt/β‐Catenin Signaling Pathway

Advanced Science, EarlyView.
In KLF1‐on (neonatal and Klf1 overexpression hearts) models, KLF1 regulates Wnt/β‐catenin signaling pathway and the expression of cell proliferation‐related genes via transcriptional and epigenetic mechanisms, which induces cardiomyocyte proliferation and cardiac regeneration in mice after myocardial infarction.
Yanglin Hao, Xi Zhang, Shuan Ran, Yuan Li, Weicong Ye, Song Wang, Xiaohan Li, Zilong Luo, Jiulu Zhao, Junjie Zong, Kexiao Zheng, Ran Li, Han Zhang, Longyong Lai, Pinyan Huang, Zifeng Zou, Wang Zhan, Zhang Yue, Jie Wu, Jiahong Xia   +19 more
wiley   +1 more source

Role of Catheter Ablation in Arrhythmogenic Right Ventricular Dysplasia [PDF]

, 2005
Arrhythmogenic right ventricular dysplasia/cardiomyopathy is a disorder characterized by frequent ventricular tachycardia originating from the right ventricle and fibro-fatty replacement of right ventricular myocardium. Though the disorder was originally
Fontaine, Guy, Francis, Johnson
core   +2 more sources