[HTML][HTML] Regulation of skeletal development and maintenance by Runx2 and Sp7

T Komori - International Journal of Molecular Sciences, 2024 - mdpi.com
Runx2 (runt related transcription factor 2) and Sp7 (Sp7 transcription factor 7) are crucial
transcription factors for bone development. The cotranscription factor Cbfb (core binding …

Collagen transport and related pathways in Osteogenesis Imperfecta

L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …

Update on the genetics of osteogenesis imperfecta

M Jovanovic, JC Marini - Calcified Tissue International, 2024 - Springer
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized
by bone fragility and deformity, growth deficiency, and other secondary connective tissue …

A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

JC Lui, A Raimann, H Hojo, L Dong… - Nature …, 2022 - nature.com
SP7/Osterix is a transcription factor critical for osteoblast maturation and bone formation.
Homozygous loss-of-function mutations in SP7 cause osteogenesis imperfecta type XII, but …

SP7: From bone development to skeletal disease

JS Wang, N Tokavanich, MN Wein - Current osteoporosis reports, 2023 - Springer
Abstract Purpose of Review The purpose of this review is to summarize the different roles of
the transcription factor SP7 in regulating bone formation and remodeling, discuss current …

Early-onset osteoporosis

O Mäkitie, MC Zillikens - Calcified tissue international, 2022 - Springer
Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly.
It is very rare in children and young adults and the definition is not only based on a low BMD …

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

E Kague, F Turci, E Newman, Y Yang, KR Brown… - Bone Research, 2021 - nature.com
Back pain is a common condition with a high social impact and represents a global health
burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no …

Sp7 action in the skeleton: Its mode of action, functions, and relevance to skeletal diseases

H Hojo, S Ohba - International Journal of Molecular Sciences, 2022 - mdpi.com
Osteoblast differentiation is a tightly regulated process in which key transcription factors
(TFs) and their target genes constitute gene regulatory networks (GRNs) under the control of …

Early‐onset osteoporosis: rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen

A Costantini, RE Mäkitie, MA Hartmann… - Journal of Bone and …, 2020 - academic.oup.com
ABSTRACT Early‐onset osteoporosis (EOOP), characterized by low bone mineral density
(BMD) and fractures, affects children, premenopausal women and men aged< 50 years …

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant

K Ludwig, LM Ward, N Khan, ME Robinson, V Miranda… - Bone, 2022 - Elsevier
Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive
osteogenesis imperfecta ('OI type XII') and in one case of dominant juvenile Paget's disease …