Intrinsically disordered proteins and biomineralization

AL Boskey, E Villarreal-Ramirez - Matrix Biology, 2016 - Elsevier
In vertebrates and invertebrates, biomineralization is controlled by the cell and the proteins
they produce. A large number of these proteins are intrinsically disordered, gaining some …

[HTML][HTML] Consensus recommendations for the diagnosis and management of X-linked hypophosphatemia in Belgium

MR Laurent, J De Schepper, D Trouet… - Frontiers in …, 2021 - frontiersin.org
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic
rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated …

[HTML][HTML] Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification

A Bloch-Zupan, T Rey, A Jimenez-Armijo… - Frontiers in …, 2023 - frontiersin.org
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

MK Prasad, V Geoffroy, S Vicaire, B Jost… - Journal of medical …, 2016 - jmg.bmj.com
Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …

[HTML][HTML] The ABCs of the atypical Fam20 secretory pathway kinases

CA Worby, JE Mayfield, AJ Pollak, JE Dixon… - Journal of Biological …, 2021 - ASBMB
The study of extracellular phosphorylation was initiated in late 19th century when the
secreted milk protein, casein, and egg-yolk protein, phosvitin, were shown to be …

[HTML][HTML] FAM20C overview: Classic and novel targets, pathogenic variants and raine syndrome phenotypes

I Palma-Lara, M Pérez-Ramírez… - International Journal of …, 2021 - mdpi.com
FAM20C is a gene coding for a protein kinase that targets SXE/pS motifs on different
phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are …

[HTML][HTML] The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes

H Pan, Y Yang, H Xu, A Jin, X Huang, X Gao… - Frontiers in Cell and …, 2023 - frontiersin.org
Dental mesenchymal stem cells (DMSCs) are multipotent progenitor cells that can
differentiate into multiple lineages including odontoblasts, osteoblasts, chondrocytes, neural …

Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review

A Broutin, AK Bidi-Lebihan, T Canceill, F Vaysse… - International …, 2023 - Elsevier
Introduction The aim of this systematic review (Prospero CRD42022323188) is to investigate
whether an association exists in patients with amelogenesis imperfecta (AI) between …

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

PM Yamaguti, FAR Neves, D Hotton… - Journal of medical …, 2017 - jmg.bmj.com
Background Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by
tooth enamel defects. AI was recently described in patients with familial hypercalciuria and …

Molecular diagnoses of X‐linked and other genetic hypophosphatemias: Results from a sponsored genetic testing program

ET Rush, B Johnson, S Aradhya… - Journal of Bone and …, 2020 - academic.oup.com
ABSTRACT X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …