One disease, many genes: implications for the treatment of osteopetroses
S Penna, V Capo, E Palagano, C Sobacchi… - Frontiers in …, 2019 - frontiersin.org
Osteopetrosis is a condition characterized by increased bone mass due to defects in
osteoclast function or formation. In the last decades, the molecular dissection of …
osteoclast function or formation. In the last decades, the molecular dissection of …
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R
Colony-stimulating factor 1 receptor (CSF1R) plays key roles in the development and
function of the cells in the monocyte/macrophage lineage, including microglia and …
function of the cells in the monocyte/macrophage lineage, including microglia and …
Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation
L Guo, DR Bertola, A Takanohashi, A Saito… - The American Journal of …, 2019 - cell.com
Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and
function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono …
function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono …
Osteoclast-poor osteopetrosis
C Sobacchi, M Abinun - Bone, 2022 - Elsevier
Osteopetrosis (OPT) is a rare inherited bone disease characterized by a bone resorption
defect, due to osteoclast malfunction (in osteoclast-rich, oc-rich, OPT forms) or absence (in …
defect, due to osteoclast malfunction (in osteoclast-rich, oc-rich, OPT forms) or absence (in …
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Summary ERI1 is a 3′-to-5′ exoribonuclease involved in RNA metabolic pathways
including 5.8 S rRNA processing and turnover of histone mRNAs. Its biological and medical …
including 5.8 S rRNA processing and turnover of histone mRNAs. Its biological and medical …
Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
A Howaldt, S Nampoothiri, LM Quell, A Ozden… - Bone, 2019 - Elsevier
The osteopetroses and related sclerosing bone dysplasias can have a broad range of
manifestations. Especially in the milder forms, sandwich vertebrae are an easily …
manifestations. Especially in the milder forms, sandwich vertebrae are an easily …
Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing
skeletal dysplasia. We report on a 34‐year‐old patient with sandwich vertebrae …
skeletal dysplasia. We report on a 34‐year‐old patient with sandwich vertebrae …
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling
Bone formation represents a heritable trait regulated by many signals and complex
mechanisms. Its abnormalities manifest themselves in various diseases, including …
mechanisms. Its abnormalities manifest themselves in various diseases, including …
Genetic disorders associated with the RANKL/OPG/RANK pathway
JY Xue, S Ikegawa, L Guo - Journal of Bone and Mineral Metabolism, 2021 - Springer
Abstract The RANKL/OPG/RANK signalling pathway is a major regulatory system for
osteoclast formation and activity. Mutations in TNFSF11, TNFRSF11B and TNFRSF11A …
osteoclast formation and activity. Mutations in TNFSF11, TNFRSF11B and TNFRSF11A …
Sclerosing bone dysplasias
E Boudin, W Van Hul - Best Practice & Research Clinical Endocrinology & …, 2018 - Elsevier
The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous
group of rare bone disorders which, according to the latest Nosology and classification of …
group of rare bone disorders which, according to the latest Nosology and classification of …