Results 121 to 130 of about 421,652 (362)

Advances in miRNA research: Unraveling the complexities of gene regulation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

open access: yesAnnals of Neurology, EarlyView.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari   +140 more
wiley   +1 more source

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

open access: yes, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E.   +2 more
core  

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

The landscape of congenital heart disease [PDF]

open access: yesCardiovascular Diagnosis and Therapy, 2017
The soft echo of visitors’ voices in the tall space, the noise of old wooden choir benches, the intriguing display of white coral-like structures under bell jars, structures that turn out to be hearts with a range of repaired congenital defects. It’s just a pain is a multimedia site-specific installation, created by artist Sofie Layton within the ...
openaire   +5 more sources

Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]

open access: yes
It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Armin Wessel   +3 more
core  

Impact of Congenital Heart Disease at Adulthood [PDF]

open access: yes, 2013
Since the first surgical techniques for patients with congenital heart disease (ConHD) became available some 55 years ago, virtually every area of patient care has evolved substantially.
Opic, P. (Petra)
core  

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