Results 111 to 120 of about 5,198,783 (315)
Familial Mediterranean Fever: Perspective and Round on Uncertainties
Dubai Medical JournalIntroduction: Familial Mediterranean fever (FMF) is a hereditary periodic fever characterized by its autosomal recessive nature. The complexity of its presentation and response to treatment poses significant challenges in diagnosing and managing FMF ...
Haifa Ali Bin Dahman +2 more
doaj +1 more source
GENETIC SPECTRUM OF NOONAN SYNDROME IN PEDIATRIC POPULATION
Noonan syndrome (NS) is an autosomal dominant hereditary disorder with a prevalence of 1:1000 to 1:2500 live births. First described in 1963 by pediatric cardiologist Jacqueline Noonan, this syndrome is classified among RASopathies which arise from ...
Sarajlija, Adrijan +7 more
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Modelling stem cell differentiation related processes—A practical overview for biologists
FEBS Letters, EarlyView.Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar +4 more
wiley +1 more source
Genetics & Applications, 2019 Institute for Genetic Engineering and Biotechnology
doaj +1 more source
Design and analysis strategies for robust microbiome ageing research
FEBS Letters, EarlyView.The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik +5 more
wiley +1 more source
FEBS Letters, EarlyView.CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens +8 more
wiley +1 more source
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum ...
Tomoko Sekiya +5 more
core +1 more source
Reconstructing enzyme evolution by protein engineering
FEBS Letters, EarlyView.Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler +2 more
wiley +1 more source
FEBS Letters, EarlyView.Cancer progression is regulated by the dynamic matrix code of the tumor microenvironment, which influences cellular behavior and disease development. Importantly, matrix remodeling in three‐dimensional cancer models more accurately reflects in vivo conditions compared to conventional two‐dimensional systems.
Sylvia Mangani +3 more
wiley +1 more source
GENETIC SPECTRUM OF PRIMARY DYSLIPIDEMIAS IN CHILDREN - SINGLE CENTER EXPERIENCE
Primary dyslipidemias are heterogenous metabolic disorders caused by pathogenic genetic variants. Over 100 genes have been identified that impact lipid metabolism, with familial hypercholesterolemia being the most common form, occurring in the general ...
Sarajlija, Adrijan +8 more
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