Researchers have identified a subset of Holstein having a range of skeletal deformities,
including vertebral anomalies, referred to as complex vertebral malformation due to …

For identification of genes associated with sporadically occurring anomalies, such as
vertebral malformations, a candidate gene approach is preferable to a traditionally applied …

Background Congenital disorders of glycosylation (CDGs) are genetic diseases caused by
pathogenic variants of genes involved in protein or lipid glycosylation. De novo variants in …

Background The heritability of autism spectrum disorder is currently estimated at 55%.
Identification of the molecular basis of patients with syndromic autism extends our …

Abstract SLC35A2‐CDG is caused by mutations in the X‐linked SLC35A2 gene encoding
the UDP‐galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N …

SLC10A7, encoded by the so-called SLC10A7 gene, is the seventh member of a human
sodium/bile acid cotransporter family, known as the SLC10 family. Despite similarities with …

Background SLC39A8, a gene located on chromosome 4q24, encodes for the manganese
(Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of …

Abstract SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-
galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic …

Congenital disorders of glycosylation (CDGs) comprise a large number of inherited
metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a …

The extensive use of a limited number of elite bulls in cattle breeding can lead to rapid
spread of recessively inherited disorders. A recent example is the globally distributed …