Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner, F Emma, DM Eastwood… - Nature Reviews …, 2019 - nature.com
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate
wasting and is associated with severe complications such as rickets, lower limb deformities …

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …

A Trombetti, N Al-Daghri, ML Brandi… - Nature Reviews …, 2022 - nature.com
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …

Developmental defects of enamel and dentine: challenges for basic science research and clinical management

WK Seow - Australian dental journal, 2014 - Wiley Online Library
Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging
from genetic defects to environmental insults. The genetic changes associated with some …

The role of biomineralization in disorders of skeletal development and tooth formation

CS Kovacs, C Chaussain, P Osdoby… - Nature Reviews …, 2021 - nature.com
The major mineralized tissues are bone and teeth, which share several mechanisms
governing their development and mineralization. This crossover includes the hormones that …

Role of matrix metalloproteinases in dental caries, pulp and periapical inflammation: an overview

A Jain, R Bahuguna - Journal of oral biology and craniofacial research, 2015 - Elsevier
Matrix metalloproteinases (MMPs) are a group of more than 25 secreted and membrane
bound enzymes that represent class of enzymes responsible for degradation of pericellular …

The rachitic tooth

BL Foster, FH Nociti Jr, MJ Somerman - Endocrine reviews, 2014 - academic.oup.com
Teeth are mineralized organs composed of three unique hard tissues, enamel, dentin, and
cementum, and supported by the surrounding alveolar bone. Although odontogenesis differs …

Phosphate and vitamin D prevent periodontitis in X-linked hypophosphatemia

M Biosse Duplan, BR Coyac, C Bardet… - Journal of dental …, 2017 - journals.sagepub.com
X-linked hypophosphatemia (XLH) is a rare genetic skeletal disease where increased
phosphate wasting in the kidney leads to hypophosphatemia and prevents normal …

Amelogenesis imperfecta: review of diagnostic findings and treatment concepts

MMI Sabandal, E Schäfer - Odontology, 2016 - Springer
Mineralization defects like amelogenesis imperfecta are often of hereditary origin. This
article reviews the diagnostic findings and summarizes the suggested treatment …

High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes

R Brommage, J Liu, GM Hansen, LL Kirkpatrick… - Bone research, 2014 - nature.com
Screening gene function in vivo is a powerful approach to discover novel drug targets. We
present high-throughput screening (HTS) data for 3 762 distinct global gene knockout (KO) …

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

P Vogel, GM Hansen, RW Read… - Veterinary …, 2012 - journals.sagepub.com
The FAM20 family of secreted proteins consists of three members (FAM20A, FAM20B, and
FAM20C) recently linked to developmental disorders suggesting roles for FAM20 proteins in …