“RIPOR2”的意思、由来-开放百科全书

The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2013].

Clinical significance

Mutations in RIPOR2 are associated to {{SWL|type=mutations_associated_to|target=hearing loss|label=hearing loss}}.^[2]

References

1. ^{{cite web | title = Entrez Gene: Family with sequence similarity 65, member B | url = https://www.ncbi.nlm.nih.gov/gene/9750 }}
2. ^{{cite journal | vauthors = Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M | title = FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 111 | issue = 27 | pages = 9864–8 | date = July 2014 | pmid = 24958875 | doi = 10.1073/pnas.1401950111 | pmc=4103326}}

Further reading

{{cite journal | vauthors = Morrish DW, Dakour J, Li H | title = Life and death in the placenta: new peptides and genes regulating human syncytiotrophoblast and extravillous cytotrophoblast lineage formation and renewal | journal = Current Protein & Peptide Science | volume = 2 | issue = 3 | pages = 245–59 | date = September 2001 | pmid = 12369935 | doi=10.2174/1389203013381116}}

{{cite journal | vauthors = Morrish DW, Dakour J, Li H | title = Functional regulation of human trophoblast differentiation | journal = Journal of Reproductive Immunology | volume = 39 | issue = 1–2 | pages = 179–95 | date = August 1998 | pmid = 9786461 | doi=10.1016/s0165-0378(98)00021-7}}

{{cite journal | vauthors = Zhang K, Waxman DJ | title = PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis | journal = Molecular Cancer | volume = 9 | pages = 319 | date = December 2010 | pmid = 21190562 | pmc = 3024252 | doi = 10.1186/1476-4598-9-319 }}

{{cite journal | vauthors = Dakour J, Li H, Morrish DW | title = PL48: a novel gene associated with cytotrophoblast and lineage-specific HL-60 cell differentiation | journal = Gene | volume = 185 | issue = 2 | pages = 153–7 | date = February 1997 | pmid = 9055809 | doi = 10.1016/s0378-1119(96)00587-2 }}

{{cite journal | vauthors = Hirayama E, Kim J | title = Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relationship to myotube formation and induction of neurite-like protrusions | journal = Differentiation; Research in Biological Diversity | volume = 76 | issue = 3 | pages = 253–66 | date = March 2008 | pmid = 17825087 | doi = 10.1111/j.1432-0436.2007.00215.x }}

{{cite journal | vauthors = Kang SJ, Rangaswamy M, Manz N, Wang JC, Wetherill L, Hinrichs T, Almasy L, Brooks A, Chorlian DB, Dick D, Hesselbrock V, Kramer J, Kuperman S, Nurnberger J, Rice J, Schuckit M, Tischfield J, Bierut LJ, Edenberg HJ, Goate A, Foroud T, Porjesz B | title = Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6 | journal = Genes, Brain, and Behavior | volume = 11 | issue = 6 | pages = 712–9 | date = August 2012 | pmid = 22554406 | pmc = 3666338 | doi = 10.1111/j.1601-183X.2012.00803.x }}

{{cite journal | vauthors = Yoon S, Molloy MJ, Wu MP, Cowan DB, Gussoni E | title = C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia | journal = Developmental Biology | volume = 301 | issue = 1 | pages = 70–81 | date = January 2007 | pmid = 17150207 | pmc = 1779902 | doi = 10.1016/j.ydbio.2006.11.002 }}