Wnt signaling executes an indispensable performance in osteoblast differentiation, bone
development, homeostasis, and remodeling. Wnt signals trigger the intracellular Wnt …

While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …

We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic
pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O …

Abstract Purpose Establishing links between Mendelian phenotypes and genes enables the
proper interpretation of variants therein. Autozygome, a rich source of homozygous variants …

Discovery of genotype–phenotype relationships remains a major challenge in clinical
medicine. Here, we combined three sources of phenotypic data to uncover a new …

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key
roles in the human body, particularly in development and neurogenesis. As such, many …

Proteoglycans consist of a core protein substituted with one or more glycosaminoglycan
(GAG) chains and execute versatile functions during many physiological and pathological …

Founder mutations are disease-causing variants that occur frequently in geographically or
culturally isolated groups whose shared ancestor (s) carried the pathogenic variant. While …

The Wnt pathway is involved in several processes essential for bone development and
homeostasis. For proper functioning, the Wnt pathway is tightly regulated by numerous …