Diferenzas entre revisións de «Receptor da vitamina D»

 
As dianas ''augas abaixo'' da ruta deste receptor nuclear de hormonas están implicadas principalmente no metabolismo mineral aínda que o receptor regula unha variedade doutras vías metabólicas, como os implicados na [[resposta inmunitaria]] e o [[cancro]].<ref name="pmid16848743">{{cite journal | vauthors = Adorini L, Daniel KC, Penna G | title = Vitamin D receptor agonists, cancer and the immune system: an intricate relationship | journal = Curr Top Med Chem | volume = 6 | issue = 12 | pages = 1297–301 | year = 2006 | pmid = 16848743 | doi = 10.2174/156802606777864890 }}</ref>
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Mutations in this gene are associated with type II vitamin D-resistant [[rickets]]. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez">{{cite web | title = Entrez Gene: VDR vitamin D (1,25- dihydroxyvitamin D3) receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7421| accessdate = }}</ref>
 
As [[mutación]]s neste xene están asociadas co [[raquitismo]] resistente a vitamina D tipo II. Un [[polimorfismo dun só nucleótido]] no [[codón]] de iniciación ten como resultado un sitio alternativo de inicio da [[tradución de proteínas|tradución]] situado tres codóns ''[[augas abaixo]]''. O [[empalme alternativo]] dá lugar a múltiples variantes de empalme ou splicing que codifican a mesma proteína.<ref name="entrez">{{cite web | title = Entrez Gene: VDR vitamin D (1,25- dihydroxyvitamin D3) receptor| url = http]] de iniciacióni.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7421| accessdate = }}</ref>
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The vitamin D receptor plays an important role in regulating the hair cycle. Loss of VDR is associated with hair loss in experimental animals.<ref name="pmid20138991">{{cite journal | vauthors = Luderer HF, Demay MB | title = The vitamin D receptor, the skin and stem cells | journal = J. Steroid Biochem. Mol. Biol. | volume = 121 | issue = 1–2 | pages = 314–6 | date = July 2010 | pmid = 20138991 | doi = 10.1016/j.jsbmb.2010.01.015 }}</ref>
Experimental studies have shown that the unliganded VDR interacts with regulatory regions in cWnt ([[wnt signaling pathway]]) and [[sonic hedgehog]] target genes and is required for the induction of these pathways during the postnatal hair cycle.<ref name="pmid25180455">{{cite journal | vauthors = Lisse TS, Saini V, Zhao H, Luderer HF, Gori F, Demay MB | title = The Vitamin D Receptor Is Required for Activation of cWnt and Hedgehog Signaling in Keratinocytes | journal = Mol. Endocrinol. | volume = 28 | issue = 10 | pages = 1698–1706 | date = September 2014 | pmid = 25180455 | doi = 10.1210/me.2014-1043 | pmc=4179637}}</ref>
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