Hypoparathyroidism, a disorder characterized by hypocalcemia ensuing from inadequate
parathyroid hormone secretion, is a rather rare disorder caused by multiple etiologies. When …

Autosomal recessive hereditary diseases are relatively common in the Saudi population.
The consanguinity rate is in excess of 50% and is a practice that remains strongly …

Background The clinical profile and genetics of individuals with Disorders/Differences of Sex
Development (DSD) has not been reported in Ukraine. Materials and Methods We …

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS)
are genetic conditions characterized by impaired skeletal development with small and …

Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of
neuronal processes, including cell division, migration, polarity, intracellular trafficking, and …

We describe four families with affected siblings showing unique clinical features: early-onset
(before 1 year of age) progressive diffuse brain atrophy with regression, postnatal …

Axonal maintenance, plasticity, and regeneration are influenced by signals from neighboring
cells, in particular Schwann cells of the peripheral nervous system. Schwann cells produce …

Microtubule dynamics and polarity stem from the polymerization of αβ-tubulin heterodimers.
Five conserved tubulin cofactors/chaperones and the Arl2 GTPase regulate α-and β-tubulin …

Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders
caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations …

Tubulin folding cofactors B (TBCB) and E (TBCE) are α-tubulin binding proteins that,
together with Arl2 and cofactors D (TBCD), A (TBCA or p14) and C (TBCC), participate in …