Abstract：
:GNAS is one of the most complex gene loci in the human genome and encodes multiple gene products including Gsα, XLαs, NESP55, A/B, and AS transcripts. XLαs, the extra-large G protein ɑ-subunit, is paternally expressed. XLɑs and Gsɑ share the common 2-13 exons with different promoters and first exons. Therefore, XLɑs contains most of the functional domains of Gsα including receptor and effector binding sites. In vitro studies suggest a "Gsɑ"-like function of XLɑs regarding the stimulation of cAMP generation in response to receptor activation with different cellular actions. However, it is unclear whether XLαs has an important physiological function in humans. Pseudopseudohypoparathyroidism (PPHP) and progressive osseous heteroplasia (POH) are caused by paternally inherited mutations of GNAS. Maternal uniparental disomy of chromosome 20 [UPD(20)mat] lacks paternal chromosome 20. Therefore, the phenotypes of these diseases may be secondary to the abnormal functions of XLɑs, at least partly. From the phenotypes of human diseases like PPHP, POH, and UPD(20)mat, as well as some animal models with deficient XLɑs functions, it could be seen that XLɑs is involved in the growth and development of the mammalian fetus, plays a different role in glucose, lipid, and energy metabolism when compared with Gsɑ, and could prevent heterotopic ossification in humans and mice. More in vivo and in vitro studies, especially the development of conditional XLɑs knockout mice, are needed to clarify the physiopathologic roles and related signal pathways of XLɑs.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Wang Y,Tian H,Chen Xdoi
10.1007/s00223-020-00714-2subject
Has Abstractpub_date
2020-09-01 00:00:00pages
212-219issue
3eissn
0171-967Xissn
1432-0827pii
10.1007/s00223-020-00714-2journal_volume
107pub_type
杂志文章,评审abstract：:Patients with systemic lupus erythematosus (SLE), a chronic inflammatory disease characterized by loss of T- and B-cell tolerance to autoantigens, are at increased risk for osteoporosis and fractures. Mice deficient in Fc gamma receptor IIb (FcγRIIB) exhibit spontaneous SLE and its restoration rescues the disease. To ...
journal_title：Calcified tissue international
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
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doi：10.1007/s00223-002-0036-7
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journal_title：Calcified tissue international
pub_type： 杂志文章
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journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900301
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journal_title：Calcified tissue international
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doi：10.1007/BF00334493
更新日期：1992-10-01 00:00:00
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journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405089
更新日期：1983-07-01 00:00:00
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journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02555965
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journal_title：Calcified tissue international
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更新日期：1998-01-01 00:00:00
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
pub_type： 杂志文章
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更新日期：1998-02-01 00:00:00
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journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405007
更新日期：1983-01-01 00:00:00
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journal_title：Calcified tissue international
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doi：10.1007/s00223-007-9095-0
更新日期：2008-01-01 00:00:00
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
pub_type： 杂志文章
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章
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journal_title：Calcified tissue international
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abstract：:Recent studies have reported that bisphosphonates reduce fracture incidence and improve bone density in children with osteogenesis imperfecta (OI). However, questions still persist concerning the effect of these drugs on bone properties such as ultrastructure and quality, particularly in the growing patient. To addres...
journal_title：Calcified tissue international
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
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journal_title：Calcified tissue international
pub_type： 杂志文章,随机对照试验
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更新日期：2018-09-01 00:00:00
abstract：:Using a histochemical method for demonstrating acid phosphatase activity, we have studied osteoclasts residing at two different bone sites in rat incisor alveolar bone, one at the endosteum and the other at the tooth socket, and compared the response of these osteoclasts to systemic changes. After 12 days of calcium (...
journal_title：Calcified tissue international
pub_type： 杂志文章
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journal_title：Calcified tissue international
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更新日期：2015-05-01 00:00:00
