Zobrazeno 1 - 10
of 4 868
pro vyhledávání: '"LRP5"'
Autor:
Liqun Xu, Lijun Zhang, Gaozhi Li, Xiaoyan Zhang, Quan Sun, Zebing Hu, Xinsheng Cao, Yixuan Wang, Fei Shi, Shu Zhang
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-15 (2024)
Abstract Background Mechanical unloading-induced bone loss threatens prolonged spaceflight and human health. Recent studies have confirmed that osteoporosis is associated with a significant reduction in bone microvessels, but the relationship between
Externí odkaz:
https://doaj.org/article/cd8749fa61694f23a28f0c2de45b1d90
Autor:
Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natàlia Garcia-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)
Abstract Background The human lineage has undergone a postcranial skeleton gracilization (i.e. lower bone mass and strength relative to body size) compared to other primates and archaic populations such as the Neanderthals. This gracilization has bee
Externí odkaz:
https://doaj.org/article/2a5c385622cf4df6aa552691ff00a630
Publikováno v:
Radiology Case Reports, Vol 19, Iss 4, Pp 1325-1328 (2024)
Osteopetrosis is a heterogenous group of inheritable disorders which manifests as increased bone density and brittleness. The most common and mildest variant typically presents in adulthood with bone pain and pathologic fractures, including spondylol
Externí odkaz:
https://doaj.org/article/2cf168c6adc14e089e250f333ed14b26
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Objective To analyze the relationship between the polymorphism and mutation of rs7125942 and rs3736228 locus in the low-density lipoprotein receptor-related protein 5 (LRP5) genotype and bone mineral density (BMD) in postmenopausal women in
Externí odkaz:
https://doaj.org/article/8d91e2864dc94315920419d9b2ecc3b2
Autor:
Jiayu Li, Chanjuan Wang, Shaochi Zhang, Bo Cai, Bo Pan, Caihong Sun, Xiaolong Qi, Chunmei Ma, Wei Fang, Kangxin Jin, Xiaojun Bi, Zibing Jin, Wenjuan Zhuang
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-19 (2023)
Abstract Background Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads to abnormal development of retinal blood vessels, resulting in vision impairment. This study aims to identify pathogenic variants by targeted exome s
Externí odkaz:
https://doaj.org/article/1b581b4cf8fe48d6b703279fbf268c52
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 318-323 (2023)
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are pre
Externí odkaz:
https://doaj.org/article/9c98e735b5934989b20354e25a210a73
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6763 (2024)
Low-density lipoprotein receptor-related protein 5 (LRP5) is a constitutively expressed receptor with observed roles in bone homeostasis, retinal development, and cardiac metabolism. However, the function of LRP5 in the brain remains unexplored. This
Externí odkaz:
https://doaj.org/article/082bed227ab84ffb883a7bc9d2808767
Autor:
Jianbo Mao, Yijing Chen, Yuyan Fang, Yirun Shao, Ziyi Xiang, Hanxiao Li, Shixin Zhao, Yiqi Chen, Lijun Shen
Publikováno v:
Annals of Medicine, Vol 54, Iss 1, Pp 3286-3298 (2022)
Objective To explore the clinical manifestations and search for the variants of six related genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial exudative vitreoretinopathy (FEVR), and investigate the correlation betwe
Externí odkaz:
https://doaj.org/article/b8ab89b14f6c447da1f206c83f925ea3
Autor:
Stéphanie Fabre, Morgane Bourmaud, Guillaume Mabilleau, Ruben Goulet, Aude Couturier, Alexandre Dentel, Serge Picaud, Thomas Funck‐Brentano, Corinne Collet, Martine Cohen‐Solal
Publikováno v:
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
ABSTRACT Early‐onset osteoporosis (EOOP) has been associated with several genes, including LRP5, coding for a coreceptor in the Wnt pathway. Variants in LRP5 were also described in osteoporosis pseudoglioma syndrome, combining severe osteoporosis a
Externí odkaz:
https://doaj.org/article/16e7e35c1bb8432886e6622ee484f9ee
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