Recent progress in molecular genetics has strongly influenced nephrology. Gene mutations have been identified which cause various monogenic hereditary renal diseases including Alport syndrome, autosomal dominant polycystic kidney disease, and tubular transporter disorders. The data obtained will be useful not only to develop new methods of diagnosis and treatment of such particular diseases but...

Let $m$ and $n$ be positive integers, let $p$ a prime. $T(x)=\Phi_{p^m}(\Phi_{2^n}(x))$, where $\Phi_k(x)$ is the cyclotomic polynomial of index $k$. In this article, we prove that $T(x)$ irreducible over $\mathbf Q$ $\left\{1,\theta,\theta^2,\ldots,\theta^{2^{n-1}p^{m-1}(p-1)-1}\right\}$ basis for ring integers Q (\theta)$, $T(\theta)= 0$.

During the initial stages of the genome revolution human genetics was hugely successful in discovering the underlying genes for monogenic diseases. Over 3,000 monogenic diseases have been discovered with simple patterns of inheritance. The unravelling and identification of the genetic variants underlying complex or multifactorial traits, however, is proving much more elusive. There have been ov...

Identification of pathogenic variants in monogenic diseases is an important aspect of diagnosis, genetic counseling, and prediction of disease severity. Pathogenic mechanisms involved include changes in gene expression, RNA processing, and protein translation. Variants affecting pre-mRNA splicing are difficult to predict due to the complex mechanism of splicing regulation. A generic approach to...

A complex web of dynamic relationships between innate and adaptive immunity is now evident for many autoinflammatory and autoimmune disorders, the first deriving from abnormal activation of innate immune system without any conventional danger triggers and the latter from self-/non-self-discrimination loss of tolerance, and systemic inflammation. Due to clinical and pathophysiologic similarities...

A problem of 'missing heritability' has been identified following recent genome-wide association (GWA) studies of single nucleotide polymorphisms (SNPs) associated with complex diseases. Current GWA studies fail to detect key sources of genetic variation, particularly tandem-repeat polymorphisms (TRPs), which provide a unique source of genetic variability by modulating a range of biological pro...