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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …