Fibroblast growth factors (FGFs) signal through FGF receptor tyrosine kinases to regulate a wide range of biological processes during development and adulthood. FGF receptors (FGFRs) are involved ...

We discuss the pathophysiology of clinically stable COPD and examine the impact of acutely increased expiratory flow limitation on the compromised respiratory system. Finally, we review the chain of ...

An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. The embryology and implications of holoprosencephaly are described.

However, a 300 kb deletion of 18p11.31, including the TGIF1 gene, was identified and is likely the cause of the holoprosencephaly seen in the fetus.

The evolution of a disease resulting in functional changes in your body is known as pathophysiology. To understand COPD’s pathophysiology, it’s important to understand the structure of the ...

Correspondence to: Prof. M Levin, Department of Paediatrics, Faculty of Medicine, Imperial College of Science, Technology & Medicine, Norfolk Place, London W2 1PG, UK; m.levin{at}ic.ac.uk Neisseria ...

Endothelial cell specific Lrp2 deletion leads to impaired Aβ-clearance, which is described in more detail in the next section. Defective homeostasis of SorLA and its cargo disrupts cellular function ...

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is widely assumed that such alleles exert small regulatory effects on the expression of cis-linked genes.

Or it could be a condition that results in one or both of the vocal cords becoming paralyzed. Most of the time, causes such as a cold, allergies, or inhaled irritants are the culprit, but hoarseness ...

These findings suggested that TUBB3 E410K causes defects in both peripheral central axon growth, guidance, and maintenance. Of note, the E410K substitution has also been reported in the TUBB4A isotype ...