Abstract：
:Apert syndrome (AS) is one of the most severe craniosynostoses and is characterized by premature fusion of craniofacial sutures. Mutations of either Ser252Trp or Pro253Arg in fibroblast growth factor receptor 2 (FGFR2) are responsible for nearly all known cases of AS. Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients. Mutant mice (Fgfr2(250/+)) are smaller in body size with brachycephaly and exhibit distorted skulls with widely spaced eyes. Unexpectedly, the premature closure of the coronal suture is accompanied by decreased, rather than increased, bone formation. We demonstrate that the Fgfr2-Ser252Trp [corrected] mutation does not cause obvious alterations in cell proliferation and differentiation; however, it results in increased Bax expression and apoptosis of osteogenic cells in mutant coronal suture. The accelerated cell death possibly reduces the space between osteogenic fronts of flat bones and results in the physical contact of these bones. Thus, our data reveal that dysregulated apoptosis plays an important role in the pathogenesis of AS related phenotypes.
journal_name
Bonejournal_title
Boneauthors
Chen L,Li D,Li C,Engel A,Deng CXdoi
10.1016/s8756-3282(03)00222-9subject
Has Abstractpub_date
2003-08-01 00:00:00pages
169-78issue
2eissn
8756-3282issn
1873-2763pii
S8756328203002229journal_volume
33pub_type
杂志文章相关文献
BONE文献大全abstract：:Fracture healing is influenced by numerous hormones, growth factors, and cytokines. The systemic administration of growth hormone (GH) has shown to accelerate bone regeneration. Local application of growth factors, such as insulin-like growth factor-1 (IGF-1) and transforming growth factor-beta-1 (TGF-beta1), are know...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(02)00798-6
更新日期：2002-07-01 00:00:00
abstract：BACKGROUND:NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal studies suggest NEMO is required for NF-κB mediated bone homeostasis, but this has not been thoroughly studied ...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2019.01.014
更新日期：2019-04-01 00:00:00
abstract：:Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozyg...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2016.08.023
更新日期：2016-11-01 00:00:00
abstract：BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by episodic soft tissue swelling (flare-ups) that leads to progressive heterotopic ossification and restricted joint mobility. METHODS:Here we present the first longitudinal patient-reported mobility assessment (...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2017.06.005
更新日期：2018-04-01 00:00:00
abstract：:Vitamin D deficiency may depress bone formation but its effect on bone resorption is not well defined. As an index of bone resorption, the activity of acid phosphatase, a lysosomal enzyme found in osteoclasts, was quantitated in situ from a bone tissue smear preparation. Activity of the enzyme, measured by integrative...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/8756-3282(87)90171-2
更新日期：1987-01-01 00:00:00
abstract：:Although basic fibroblast growth factor (bFGF) is a potent stimulator of bone formation when administered intravenously, less is known regarding the effects of this peptide on bone following subcutaneous (s.c.) administration. In addition, it is unknown whether coadministration of estrogen enhances the bone response t...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(03)00118-2
更新日期：2003-09-01 00:00:00
abstract：BACKGROUND:Specific physical loading leads to enhanced bone development during childhood. A general physical activity program mimicking a real-life situation was successful at increasing general physical health in children. Yet, it is not clear whether it can equally increase bone mineral mass. We performed a cluster-r...
journal_title：Bone
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.bone.2010.11.018
更新日期：2011-04-01 00:00:00
abstract：:Type 1 diabetes mellitus (T1DM) has been associated with deterioration of bone microarchitecture and strength, resulting in increased fracture risk. Substantial studies have revealed the capacity of moderate-intensity static magnetic fields (SMF) on promoting osteoblastogenesis in vitro and stimulating bone growth and...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2017.10.024
更新日期：2018-02-01 00:00:00
abstract：:Human vertebral cancellous bone from white males (N = 19), black males (N = 16), white females (N = 12), and black females (N = 17) was examined histologically for the presence, numerical density, and morphology of in vivo microscopic cracking (microdamage). Two patterns of microcracks, linear and cross-hatched, were ...
journal_title：Bone
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/8756-3282(96)88871-5
更新日期：1996-08-01 00:00:00
abstract：:Bone metastases and skeletal complications are major causes of morbidity in prostate cancer patients. Despite the osteoblastic appearance of bone metastases on imaging studies, patients have elevated serum and urinary markers of bone resorption, indicative of high osteoclast activity. Increased osteoclast activity is ...
journal_title：Bone
pub_type： 杂志文章,评审
doi：10.1016/j.bone.2010.05.038
更新日期：2011-01-01 00:00:00
abstract：:Osteocyte apoptosis precedes osteoclast resorption, and may act as a critical signal to trigger bone remodeling. While osteoclast precursors are known to travel via the circulation, the specific mechanisms by which they accumulate at remodeling sites are unclear. We hypothesized that osteocyte apoptosis mediates osteo...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2011.09.052
更新日期：2012-01-01 00:00:00
abstract：:The effects of imaging parameters and special configuration of objects within the reconstruction space on the micro computed tomography (μCT) based mineral density have been explored, and a series of density correction curves have been presented. A manufacturer-provided calibration phantom (0, 100, 200, 400, 800 mg HA...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2011.10.004
更新日期：2012-03-01 00:00:00
abstract：:Mandibular condylar cartilage can be distinguished from articular and growth cartilages of long bones based on several differences in morphology, physiology, and function between these structures. However, there is almost no information available on the types of genes that contribute to these differences. In this stud...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2007.09.048
更新日期：2008-06-01 00:00:00
abstract：:Approximately 7.9 million fractures occur annually in the United States with 5-10% of these resulting in delayed or impaired healing. Nearly half of the trauma cost of $56 billion per year is used for the treatment of fractures. More importantly, fracture results in a substantial reduction in the quality of life. New ...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2011.06.037
更新日期：2011-11-01 00:00:00
abstract：INTRODUCTION:High plasma homocysteine (Hcy) levels have been associated with increased risk of fracture. Since Hcy has been shown to induce apoptosis in many cell types, including vascular endothelial cells, we hypothesized that Hcy would have a similar apoptotic effect on osteoblasts, leading to osteoporosis by reduci...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2006.03.004
更新日期：2006-09-01 00:00:00
abstract：:Old age-associated osteoporosis is related to diminished bone blood flow and impaired nitric oxide (NO)-mediated vasodilation of the bone vasculature. Endurance exercise training restores the age-associated reduction of vasodilation in numerous vascular beds, as well as improving bone properties. The purpose of this s...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2009.10.029
更新日期：2010-03-01 00:00:00
abstract：:Exercise during growth can be important for attaining optimal bone mass. High-intensity long-duration protocols, however, can have detrimental effects on immature bone morphology and mechanics. The underlying mechanisms are poorly understood. Here, we quantified the mechanical environment of the middiaphyseal rooster ...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(99)00256-2
更新日期：2000-02-01 00:00:00
abstract：:Bone sialoprotein (BSP) is highly expressed in early bone deposition and may play a part in primary bone mineralization. We previously showed that while BSP−/− mice have a mild secondary bone phenotype and are responsive to mechanical (unloading) and hormonal (ovariectomy, parathyroid hormone (PTH)) challenges, repair...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2012.02.014
更新日期：2012-05-01 00:00:00
abstract：:In this study we investigate bone metabolism in patients with rheumatoid arthritis (RA), with or without joint destruction, using serum biochemical markers of bone turnover. Three hundred eighteen patients (disease duration >2 years; mean 9 years) were divided into those with joint destruction, that is, with Larsen wr...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(98)00193-8
更新日期：1999-04-01 00:00:00
abstract：:In recent years, great interest in combined treatment of parathyroid hormone (PTH) with anti-resorptive therapy has emerged. PTH has been suggested to aid bridging of atrophic fractures and improve strength in closed fracture models. Bisphosphonate treatments typically result in a larger woven bone callus that is slow...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2016.08.012
更新日期：2016-11-01 00:00:00
abstract：:A characteristic sign of zinc deficiency is retarded skeletal growth, but the role of zinc in osteoblasts is not well understood. Two major events for bone formation include osteoblast differentiation by bone marker gene expression, which is mainly regulated by bone-specific transcription factor Runx2 and extracellula...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2009.11.003
更新日期：2010-03-01 00:00:00
abstract：:On the basis of studies with bone-seeking isotopes, it is generally believed that the metabolic activity of osteoblasts of the trabecular bone is greater than that of the osteoblasts of the cortex. This implies that the oxidative activity, which provides the energy for biosyntheses, will also be greater in the former ...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/8756-3282(89)90061-6
更新日期：1989-01-01 00:00:00
abstract：INTRODUCTION:Angiogenesis is closely associated with bone formation, especially endochondral ossification. Angiopoietin 1 (Ang1) is a specific growth factor functioning to generate a stable and matured vasculature through the Tie2 receptor/PI3K/AKT pathway. Recently cartilage oligomeric matrix protein (COMP)-Ang1, an A...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2009.09.019
更新日期：2010-02-01 00:00:00
abstract：:Formoterol, a beta2-adrenergic agonist has been shown in ovariectomized rat models to have anabolic effects on bone. However, those studies did not determine whether the effect of formoterol was by a direct action on bone cells themselves or indirectly via anabolic action on muscle. To address the question of whether ...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(98)00026-x
更新日期：1998-05-01 00:00:00
abstract：:Twenty patients with mild Paget's disease of bone were given either 20 (10 patients) or 40 mg alendronate daily for 6 months. The 20-mg dose was well tolerated, but in 3 patients on 40 mg/d alendronate, the treatment was withdrawn after 3-5 months because of gastric and oesophageal disturbances. Urinary hydroxyproline...
journal_title：Bone
pub_type： 临床试验,杂志文章
doi：10.1016/8756-3282(94)90818-4
更新日期：1994-07-01 00:00:00
abstract：:The parathyroid hormone (PTH) signaling pathways that effect changes in osteoblast gene expression also alter the organization of the cytoskeletal proteins. PTH regulates the expression of nucleoskeletal proteins, such as nuclear mitotic apparatus protein (NuMA) and topoisomerase II-alpha. NuMA is a structural compone...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(97)00300-1
更新日期：1998-04-01 00:00:00
abstract：INTRODUCTION:Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Although ALMS is characterised by several metabolic and hormonal dysfunctions that can lead to an increased ri...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2020.115756
更新日期：2021-02-01 00:00:00
abstract：:Recent studies have identified that Interleukin (IL)-23/IL-17 axis plays crucial role in pathogenesis of inflammation and bone destruction. IL-23 is thought to promote joint destruction in arthritis by stimulating Th17 cells. IL-23 directly mediates bone loss by inducing osteoclastogenesis and receptor activator of ka...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2018.01.027
更新日期：2018-05-01 00:00:00
abstract：:Postmenopausal fractures are associated with low bone mass; however, the role of low peak bone mass in young adults in determining subsequent osteoporosis suggests that premenopausal fractures may also be relevant. We therefore sought to determine whether a self-reported previous history of premenopausal wrist and non...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/s8756-3282(02)00778-0
更新日期：2002-07-01 00:00:00
abstract：:Numerous studies have investigated the effects of physical activity on bone health; however, little is known about the effects of isokinetic strength training on bone. While bone mineral density (BMD) is widely used to assess bone health and fracture risk, there are several limitations of this measure that warrant new...
journal_title：Bone
pub_type： 杂志文章
doi：10.1016/j.bone.2007.07.004
更新日期：2007-10-01 00:00:00
