[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 …
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 …
fragility and deformities as the main characteristics, albeit with different degrees of severity …
Update on the genetics of osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized
by bone fragility and deformity, growth deficiency, and other secondary connective tissue …
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
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 …
Homozygous loss-of-function mutations in SP7 cause osteogenesis imperfecta type XII, but …
SP7: From bone development to skeletal disease
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 …
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 …
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
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 …
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 …
(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 …
(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
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 …
osteogenesis imperfecta ('OI type XII') and in one case of dominant juvenile Paget's disease …