Proper serum phosphate concentrations are maintained by a complex and poorly
understood process. Identification of genes responsible for inherited disorders involving …

Background Familial hemiplegic migraine is an autosomal dominant severe subtype of
migraine with aura characterised by some degree of hemiparesis during the attacks. So far …

Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an
autosomal recessive form (designated ARHP) to chromosome 4q21 and identified …

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23.
Background The gene for the renal phosphate wasting disorder autosomal-dominant …

Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by
ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the …

The German government initiated the Network University Medicine (NUM) in early 2020 to
improve national research activities on the Severe Acute Respiratory Syndrome Coronavirus …

Mutations in the gene encoding the glycosyltransferase polypeptide GalNAc-T3, which is
involved in initiation of O-glycosylation, were recently identified as a cause of the rare …

Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous
group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an …

The analysis of rare genetic disorders affecting phosphate homeostasis led to the
identification of several proteins that are essential for the renal regulation of phosphate …

The gene mutated in autosomal dominant hypophosphatemic rickets (ADHR), a phosphate
wasting disorder, has been identified as FGF-23, a protein that shares sequence homology …