“Chordin-like 1”的意思、由来-开放百科全书

Function

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described.^[1]

Clinical significance

Mutations in CHRDL1 are associated to {{SWL|type=mutations_associated_to|target=Neuhäuser Syndrome|label=Neuhäuser Syndrome}}, {{SWL|type=mutations_associated_to|target= megalocornea|label= X-linked megalocornea}} and {{SWL|type=mutations_associated_to|target=central corneal thickness|label=central corneal thickness}}.^[2]

References

1. ^¹{{cite web | title = Entrez Gene: Chordin-like 1 | url = https://www.ncbi.nlm.nih.gov/gene/91851 | accessdate = 2014-08-06 }}
2. ^{{cite journal |vauthors=Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ | title = Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness | journal = PLoS ONE | volume = 9 | issue = 8 | pages = e104163 | year = 2014 | pmid = 25093588 | doi = 10.1371/journal.pone.0104163 | pmc=4122416}}

Further reading

{{cite journal |author1=Sakuta H |author2=Suzuki R |author3=Takahashi H |author4=Kato A |author5=Shintani T |author6=Iemura Si |author7=Yamamoto TS |author8=Ueno N |author9=Noda M | title = Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina | journal = Science | volume = 293 | issue = 5527 | pages = 111–5 |date=July 2001 | pmid = 11441185 | doi = 10.1126/science.1058379 | url = }}

{{cite journal |vauthors=Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ | title = X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development | journal = Am. J. Hum. Genet. | volume = 90 | issue = 2 | pages = 247–59 | year = 2012 | pmid = 22284829 | pmc = 3276677 | doi = 10.1016/j.ajhg.2011.12.019 }}

{{cite journal |vauthors=Kane R, Godson C, O'Brien C | title = Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis | journal = Mol. Vis. | volume = 14 | issue = | pages = 1138–48 | year = 2008 | pmid = 18587495 | pmc = 2435163 | doi = }}

{{cite journal |vauthors=Fernandes H, Dechering K, van Someren E, Steeghs I, Apotheker M, Mentink A, van Blitterswijk C, de Boer J | title = Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells | journal = Cells Tissues Organs (Print) | volume = 191 | issue = 6 | pages = 443–52 | year = 2010 | pmid = 20130390 | doi = 10.1159/000281825 }}

{{cite journal | title = A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease | journal = Nature Genetics | volume = 43 | issue = 4 | pages = 339–344 | year = 2011 | pmid = 21378988 | pmc = 3190399| doi = 10.1038/ng.782 }}

{{cite journal |vauthors=Larman BW, Karolak MJ, Adams DC, Oxburgh L | title = Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury | journal = J. Am. Soc. Nephrol. | volume = 20 | issue = 5 | pages = 1020–31 | year = 2009 | pmid = 19357253 | pmc = 2678041 | doi = 10.1681/ASN.2008070768 }}

{{cite journal |vauthors=Coffinier C, Tran U, Larraín J, De Robertis EM | title = Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate | journal = Mech. Dev. | volume = 100 | issue = 1 | pages = 119–22 | year = 2001 | pmid = 11118896 | doi = 10.1016/s0925-4773(00)00507-4}}

{{cite journal |vauthors=Gazzerro E, Canalis E | title = Bone morphogenetic proteins and their antagonists | journal = Rev Endocr Metab Disord | volume = 7 | issue = 1-2 | pages = 51–65 | year = 2006 | pmid = 17029022 | doi = 10.1007/s11154-006-9000-6 }}

{{cite journal |vauthors=Chen D, Zhao M, Mundy GR | title = Bone morphogenetic proteins | journal = Growth Factors | volume = 22 | issue = 4 | pages = 233–41 | year = 2004 | pmid = 15621726 | doi = 10.1080/08977190412331279890 }}