Results 71 to 80 of about 8,530 (370)

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School [PDF]

open access: yes, 2018
Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity.
A Onoufriadis   +35 more
core   +5 more sources

Novel use of covered stents to treat profound cyanosis in a hepatic vein exclusion Fontan

open access: yesAnnals of Pediatric Cardiology, 2019
Fontan completion in patients with complex cardiac anatomy, and specifically heterotaxy syndrome, can present unique physiologic considerations. For example, existing venous connections may be “unmasked” after a cavopulmonary anastomosis operation.
Sarosh P Batlivala, Makram R Ebeid
doaj   +1 more source

Histopathological assessment of laterality defects in zebrafish development

open access: yesAnimal Cells and Systems, 2021
Laterality defects during embryonic development underlie the aetiology of various clinical symptoms of neuropathological and cardiovascular disorders; however, experimental approaches to understand the underlying mechanisms are limited due to the complex
Md. Ashraf Uddin Chowdhury   +6 more
doaj   +1 more source

Heterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report

open access: yesJournal of Medical Case Reports
Heterotaxia is characterized by an abnormal positioning of the thoracic and/or abdominal organs, resulting in various physiological and hemodynamic implications.
A. Al-Bitar   +3 more
semanticscholar   +1 more source

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1 [PDF]

open access: yes, 2016
Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants.
Barnes, Ralston M.   +9 more
core   +1 more source

Heterotaxy Polysplenia Syndrome Causing Intermittent Vomiting Due to Malrotation of the Duodenum in an Adult

open access: yesHaseki Tıp Bülteni, 2019
Heterotaxy syndrome (situs ambiguus) is a rare condition in which the internal organs are abnormally arranged in the chest and abdomen. It occurs from an early embryological developmental disturbance with most cases being sporadic.
Tuba Selçuk Can   +2 more
doaj   +1 more source

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco‐abdominal organs in the left‐right axis and is associated with cardiovascular malformations.
Amirpouyan Namavarian   +3 more
doaj   +1 more source

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 [PDF]

open access: yes, 2016
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart ...
Bauer, Ulrike M. M.   +13 more
core   +2 more sources

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

open access: yesMolecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel   +6 more
wiley   +1 more source

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

open access: yesJournal of Cardiovascular Development and Disease, 2018
Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo.
Paolo Versacci   +7 more
doaj   +1 more source

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