Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Enzymes are efficient and specific catalysts for many essential reactions in biotechnological
and pharmaceutical industries. Many times, the natural enzymes do not display the catalytic …

Abstract Knowledge of protein structure can be used to predict the phenotypic consequence
of a missense variant. Since structural coverage of the human proteome can be roughly …

Activated T cells secrete interferon-γ, which triggers intracellular tryptophan shortage by
upregulating the indoleamine 2, 3-dioxygenase 1 (IDO1) enzyme,,–. Here we show that …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

Asthenoteratozoospermia characterized by multiple morphological abnormalities of the
flagella (MMAF) has been identified as a sub-type of male infertility. Recent progress has …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Genetic variations resulting in a change of amino acid sequence can have a dramatic effect
on stability, hydrogen bond network, conformational dynamics, activity and many other …

Single nucleotide variants (SNVs) are, together with copy number variation, the primary
source of variation in the human genome and are associated with phenotypic variation such …

Rationale: Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be
inherited in families in an autosomal dominant manner. As part of the spectrum of clinical …