Results 41 to 50 of about 4,538 (283)

A rare case of heterotaxy and left ventricular non-compaction in an adult [PDF]

, 2016
Heterotaxy syndrome with left ventricular non-compaction is a rare co-existence of abnormalities with unknown cause. It can be isolated with no other associations, or associated with congenital heart diseases, or it can occur with multiple other ...
Chacko, Anith, Scholtz, Leonie, Van Wyk, C., Vedajallam, S.   +3 more
core   +1 more source

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome [PDF]

, 2022
Funding J.A.B. acknowledges funding from iNOVA4Health-UID/Multi/04462/2013, a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência through national funds and cofunded by Fundo Europeu de Desenvolvimento ...
Inácio, José M., Buchovecky, Christie M., Cristo, Fernando, Jobanputra, Vaidehi, Wou, Karen, Belo, José A., Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Iglesias, Alejandro, Ganapathi, Mythily   +9 more
core   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Improved heart transplant survival for children with congenital heart disease and heterotaxy syndrome in the current era: An analysis from the pediatric heart transplant society

, 2021
Challenges exist with heterotaxy due to the complexity of heart disease, abnormal venous connections, and infection risks. This study aims to understand heart transplant outcomes for children with heterotaxy.
Kirklin, James K, Azeka, Estela, Pahl, Elfriede, Rusconi, Paolo, Koehl, Devin A, Khan, Asma, Cantor, Ryan S, Barnes, Aliessa P, Everitt, Melanie D, Ryan S. Cantor, Elfriede Pahl, Aliessa P. Barnes, Melanie D. Everitt, James K. Kirklin, Paolo Rusconi, Devin A. Koehl, Estela Azeka, Asma Khan   +17 more
core   +1 more source

Establishing the Embryonic Axes: Prime Time for Teratogenic Insults

Journal of Cardiovascular Development and Disease, 2017
A long standing axiom in the field of teratology states that the teratogenic period, when most birth defects are produced, occurs during the third to eighth weeks of development post-fertilization.
Thomas W. Sadler
doaj   +1 more source

Utility of Three-Dimensional Printed Model in Biventricular Repair of Complex Congenital Cardiac Defects: Case Report and Review of Literature

Children, 2022
Heterotaxy is a rare syndrome associated with cardiac complexity, anatomic variability and high morbidity and mortality. It is often challenging to visualize and provide an accurate diagnosis of the cardiac anatomy prior to surgery with the use of ...
Lauren Gabriel Betancourt, Si Hui Wong, Harinder R. Singh, Daniel Nento, Arpit Agarwal   +4 more
doaj   +1 more source

Versatile vector tools for efficient protein screening across multiple expression systems

FEBS Open Bio, EarlyView.
A unified vector toolkit enables rapid protein expression screening across E. coli, insect, and mammalian cells. A single primer pair amplifies the target gene, which is inserted into any vector via a standardized interface. This streamlined workflow eliminates repeated cloning steps, accelerating the identification of optimal expression conditions for
Zhimin Zhu, Yaqing Liu, Lei Qin, Feng Yu, Qisheng Wang, Yahui Liu   +5 more
wiley   +1 more source

Noncompaction cardiomyopathy and heterotaxy syndrome

, 2017
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD).
Stephanie M. Ware, Schamberger, Marcus S., Ware, Stephanie M., Hugo R. Martinez, Parent, John J., Marcus S. Schamberger, John J. Parent, Martinez, Hugo R.   +7 more
core   +1 more source

Additional file 1 of A multi-disciplinary, comprehensive approach to management of children with heterotaxy

, 2022
Additional file 1: Known genetic syndromes with heterotaxy in the ...
Pedro J. del Nido (7245137), Margaret W. Leigh (3144381), Andrew T. Barber (13770315), Thomas G. Saba (13770291), Samir K. Gadepalli (13770306), Anne Griffiths (9526579), Nathan S. Rubalcava (13770303), Gabrielle C. Geddes (13770294), Necia Sabin (13770318), Terri Stillwell (13770309), Laura M. Bennett Murphy (13770312), Stephanie M. Ware (13770297), David N. Schidlow (13770300), Adam J. Shapiro (11423725)   +13 more
core   +1 more source

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source