Esther Manor

TL;DR: A inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessive hypophosphatemic rickets (ARHR) with phosphaturia by positional cloning is identified, suggesting a different pathway involved in the generation of ARHR and possible additional functions for ENPP1.

TL;DR: PIOSCC has a predilection for men (M/F ratio of 2.22:1), affects mainly adults in their 6-8th decades, occurs most frequently in the mandible, and is associated mainly with a residual/radicular cyst.

TL;DR: It is demonstrated here that a homozygous point mutation in this gene is associated with PCD with absent or markedly shortened ODA, which reduces the stability of the axonemal dynein light chain 1 and damages its interactions with dyne in heavy chain and with tubulin.

TL;DR: This study has identified critical amino acids needed for the normal subcellular localization and function of Nav1.7 sodium channel, a protein highly expressed in pain‐sensing neurons, and describes the identification and functional characterization of two novel non‐truncating mutations in families with CIP.

TL;DR: Following enucleation of a cystic jaw lesion, the entire surgical specimen and not only a biopsy specimen should be examined histopathologically to prevent any possibility of an intramural squamous cell carcinoma that may be overlooked.