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 …

Genetics of otosclerosis: finally catching up with other complex traits?

LJM Tavernier, E Fransen, H Valgaeren, G Van Camp - Human Genetics, 2022 - Springer
Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal
bone remodeling of the middle and inner ear. In about 50–60% of the patients, the disease …

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

JT Rämö, T Kiiskinen, R Seist, K Krebs, M Kanai… - Nature …, 2023 - nature.com
Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of
the population. It typically presents in adulthood and half of the patients have a positive …

The CaV1. 2 L-type calcium channel regulates bone homeostasis in the middle and inner ear

C Cao, AB Oswald, BA Fabella, Y Ren, R Rodriguiz… - Bone, 2019 - Elsevier
Bone remodeling of the auditory ossicles and the otic capsule is highly restricted and tightly
controlled by the osteoprotegerin (OPG)/receptor activator of nuclear factor kappa-Β ligand …

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis

I Palma-Lara, P García Alonso-Themann… - International Journal of …, 2023 - mdpi.com
FAM20C (family with sequence similarity 20, member C) is a serine/threonine-specific
protein kinase that is ubiquitously expressed and mainly associated with biomineralization …

3D genomic alterations during development of skeletal muscle in chicken1

Z Xu, T Wang, W Zhu, M Yang, D Leng, Z Li… - Journal of Integrative …, 2024 - Elsevier
The development of skeletal muscle are complicated processes involving genes responsible
for proper muscle morphology, contractility, cell proliferation, differentiation, interactions …

The Intricacies of Renal Phosphate Reabsorption—An Overview

V Walker - International Journal of Molecular Sciences, 2024 - mdpi.com
To maintain an optimal body content of phosphorus throughout postnatal life, variable
phosphate absorption from food must be finely matched with urinary excretion. This amazing …

Targeted resequencing of otosclerosis patients from different populations replicates results from a previous genome-wide association study

LJM Tavernier, T Vanpoucke, I Schrauwen… - Journal of Clinical …, 2022 - mdpi.com
Otosclerosis is one of the most common causes of hearing loss in young adults. It has a
prevalence of 0.3–0.4% in the European population. Clinical symptoms usually occur …

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

AT Højland, LJM Tavernier, I Schrauwen, M Sommen… - Human Genetics, 2022 - Springer
In this study, we investigated the association of ACAN variants with otosclerosis, a frequent
cause of hearing loss among young adults. We sequenced the coding, 5′-UTR and 3 …

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

A Bouzid, A Tekari, F Jbeli, A Chakroun… - BMC Medical …, 2020 - Springer
Background Otosclerosis (OTSC) is among the most common causes of a late-onset hearing
loss in adults and is characterized by an abnormal bone growth in the otic capsule …