Results 111 to 120 of about 116,201 (208)
Abstract Aim Aromatase is the key enzyme in the biosynthesis of 17β‐estradiol, the most potent estrogen, which has pleiotropic neuroprotective properties. Aromatase levels increase in the brain after stroke, and its gene variants increase susceptibility to stroke. This study aims to determine whether aromatase overexpression improves stroke outcome and
Lindsay Gallagher +8 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik +9 more
wiley +1 more source
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
ABSTRACT Psychological stress (or simply “stress”) is a major contributor to chronic disease worldwide, affecting 35% of the global population, including younger generations. Furthermore, it plays a significant role in human premature aging; hence, its detrimental effects on people's health compel us to comprehend and control the ways in which ...
Marco Duarte +3 more
wiley +1 more source
The Multifaceted Role of Rad9 in the DNA Damage Response of Saccharomyces cerevisiae
ABSTRACT To maintain the integrity of the genome, cells have evolved a complex signalling system, termed the DNA damage response (DDR), which detects DNA damage and promotes DNA repair. To date, over 600 proteins have been identified that play an integral role in the DDR. RAD9, encoding a DDR mediator protein, was the prototypical DNA damage checkpoint
A. Kiely +5 more
wiley +1 more source
Defective splicing of Y-chromosome-linked gigantic genes contributes to hybrid male sterility in Drosophila. [PDF]
Fontan A +4 more
europepmc +1 more source
Hybrid female sterility due to cohesin protection errors in mouse oocytes. [PDF]
El Yakoubi W, Pan B, Akera T.
europepmc +1 more source
Genetic engineering for SIT application: a fruit fly‐focused review
Abstract Sterile insect technique (SIT) has become a key component of efficient pest control. Fruit fly pests from the Drosophilidae and Tephritidae families pose a substantial and overwhelmingly increasing threat to the agricultural industry, aggravated by climate change and globalization among other contributors.
Serafima Davydova +2 more
wiley +1 more source
Mechanism and potential therapeutic strategies of genetic abnormalities involved in deoxyribonucleic acid double-strand breaks leading to the development of human non-obstructive azoospermia. [PDF]
Wang X +11 more
europepmc +1 more source

