Results 121 to 130 of about 4,489 (232)

PIERCE1 is critical for specification of left-right asymmetry in mice. [PDF]

The specification of left-right asymmetry of the visceral organs is precisely regulated. The earliest breakage of left-right symmetry occurs as the result of leftward flow generated by asymmetric beating of nodal cilia, which eventually induces ...
Baek, IJ, Gho, YS, Kim, YH, Lee, HW, Lee, YJ, Oh, SP, Sung, YH   +6 more
core   +1 more source

Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery [PDF]

, 2017
Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA.
Corsello, G., Giuffre, M., Pinello, G., Piro, E., Schierz, I.   +4 more
core   +1 more source

ID3 deficiency alters chromatin accessibility at DSB sites and enhances vulnerability to HDAC inhibition

International Journal of Cancer, Volume 158, Issue 12, Page 3173-3186, 15 June 2026.
What's new? Errors in DNA double‐strand break (DSB) repair can lead to mutations, chromosomal instability, and ultimately cancer. Inhibitor of DNA‐binding 3 (ID3), a transcriptional repressor, is crucial to promoting DSB repair and helping maintain genome stability. Here, the authors investigated ID3 regulation of DNA repair via chromatin accessibility
Giuditta Della Corte, Hossam Eldesouky, Julia Puchan, Sercan Öz, Elena Everatt, Ashish Goyal, Gianluca Sigismondo, Udo Oppermann, Christoph Plass, Dieter Weichenhan, Ali Bakr   +10 more
wiley   +1 more source

Ventricular Topology in Congenital Heart Defects Associated with Heterotaxy: Can We Find Patterns Reflecting the Syndrome-Specific Tendency for Visceral Symmetry?

Journal of Cardiovascular Development and Disease
Heterotaxy syndrome is characterized by a tendency for bilaterally symmetric arrangement (isomerism) of inner organs. It is frequently associated with complex congenital heart defects (CHDs).
Takhfif Othman, Abdulsalam Mohammad Adnan Alsaiad, Abdulraouf M. Z. Jijeh, Jörg Männer, Talat Mesud Yelbuz   +4 more
doaj   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

Journal of Allergy and Clinical Immunology: Global
The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between ...
Rica Patil, DO, Jacquelyn Hunter, MD, Alan Knutsen, MD, Stephen R. Braddock, MD   +3 more
doaj   +1 more source

Risk Factors for Extubation Failure following Neonatal Cardiac Surgery [PDF]

, 2015
Objective: Extubation failure after neonatal cardiac surgery has been associated with considerable postoperative morbidity, although data identifying risk factors for its occurrence are sparse. We aimed to determine risk factors for extubation failure in
Delius, Ralph E., Gupta, Pooja, Laudato, Nina, Mastropietro, Christopher W., Walters, Henry L. III   +4 more
core   +1 more source

Right hemicolectomy in a patient with heterotaxy syndrome

World Journal of Colorectal Surgery, 2019
In this communication, we present a first description of right hemicolectomy in a patient with heterotaxy syndrome (HS). A 78-year-old male was admitted to the outpatient clinic with complaints of dysphagia. Diagnostic workup revealed the presence of an esophageal web.
Maxime Dewulf, Roel Beckers, Pieter Pletinckx   +2 more
openaire   +2 more sources

Oxidative Stress and DNA Epigenetic Modifications in Cancer: Mechanisms and Targeted Therapeutics

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Reactive oxygen species (ROS) modulate DNA methyltransferases (DNMTs), ten‐eleven translocation family proteins (TETs) and their cofactors, reshaping 5‐methylcytosine (5mC)/5‐hydroxymethylcytosine (5hmC)/5‐formylcytosine (5fC) landscapes and gene expression in cancer cells. In turn, epigenetic control of antioxidant and metabolic pathways feeds back on
Xishan Yang, Qitai Chen, YuJie Yu, Yi Zang, Rujia Zheng, Zhe Zhang, Shuaijun Lu, Li Zhou   +7 more
wiley   +1 more source