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 …
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 …
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
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 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
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
loss in adults and is characterized by an abnormal bone growth in the otic capsule …