“EFHC1”的意思、由来-开放百科全书

EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. ^[2]

References

1. ^{{cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = }}
2. ^{{cite journal | vauthors=Subaran RL, Conte JM, Stewart WC, Greenberg DA|title= Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.|journal= Epilepsia|year= 2015 |volume=56|issue=2|pages=188–94|doi=10.1111/epi.12864|pmid=25489633|pmc= 4354299}}

Further reading

{{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}

{{cite journal | author=Liu AW |title=Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations |journal=Am. J. Med. Genet. |volume=63 |issue= 3 |pages= 438–46 |year= 1996 |pmid= 8737649 |doi= 10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N |name-list-format=vanc| author2=Delgado-Escueta AV | author3=Gee MN | display-authors=3 | last4=Serratosa | first4=J. M. | last5=Zhang | first5=Q. W. | last6=Alonso | first6=M. E. | last7=Medina | first7=M. T. | last8=Cordova | first8=S. | last9=Zhao | first9=H. Z. }}

{{cite journal | author=Sander T |title=Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 |journal=Neurology |volume=49 |issue= 3 |pages= 842–7 |year= 1997 |pmid= 9305351 |doi= 10.1212/wnl.49.3.842|name-list-format=vanc| author2=Bockenkamp B | author3=Hildmann T | display-authors=3 | last4=Blasczyk | first4=R | last5=Kretz | first5=R | last6=Wienker | first6=TF | last7=Volz | first7=A | last8=Schmitz | first8=B | last9=Beck-Mannagetta | first9=G }}

{{cite journal | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |name-list-format=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K | display-authors=3 | last4=Suyama | first4=A | last5=Sugano | first5=S }}

{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal | author=Mungall AJ |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |name-list-format=vanc| author2=Palmer SA | author3=Sims SK | display-authors=3 | last4=Edwards | first4=C. A. | last5=Ashurst | first5=J. L. | last6=Wilming | first6=L. | last7=Jones | first7=M. C. | last8=Horton | first8=R. | last9=Hunt | first9=S. E. }}

{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{cite journal | author=Suzuki T |title=Mutations in EFHC1 cause juvenile myoclonic epilepsy |journal=Nat. Genet. |volume=36 |issue= 8 |pages= 842–9 |year= 2004 |pmid= 15258581 |doi= 10.1038/ng1393 |name-list-format=vanc| author2=Delgado-Escueta AV | author3=Aguan K | display-authors=3 | last4=Alonso | first4=Maria E | last5=Shi | first5=Jun | last6=Hara | first6=Yuji | last7=Nishida | first7=Motohiro | last8=Numata | first8=Tomohiro | last9=Medina | first9=Marco T }}

{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

{{cite journal | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-format=vanc| author2=Venkatesan K | author3=Hao T | display-authors=3 | last4=Hirozane-Kishikawa | first4=Tomoko | last5=Dricot | first5=Amélie | last6=Li | first6=Ning | last7=Berriz | first7=Gabriel F. | last8=Gibbons | first8=Francis D. | last9=Dreze | first9=Matija }}

{{cite journal | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |name-list-format=vanc| author2=Wakamatsu A | author3=Suzuki Y | display-authors=3 | last4=Ota | first4=T | last5=Nishikawa | first5=T | last6=Yamashita | first6=R | last7=Yamamoto | first7=J | last8=Sekine | first8=M | last9=Tsuritani | first9=K }}

{{cite journal | vauthors=Norberg A, Forsgren L, Holmberg D, Holmberg M |title=Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG |journal=Neurosci. Lett. |volume=396 |issue= 2 |pages= 137–42 |year= 2006 |pmid= 16378686 |doi= 10.1016/j.neulet.2005.11.039 }}

{{cite journal | author=de Nijs L |title=EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2872–9 |year= 2006 |pmid= 16824517 |doi= 10.1016/j.yexcr.2006.05.011 |name-list-format=vanc| author2=Lakaye B | author3=Coumans B | display-authors=3 | last4=Léon | first4=Christine | last5=Ikeda | first5=Takashi | last6=Delgado-Escueta | first6=Antonio V. | last7=Grisar | first7=Thierry | last8=Chanas | first8=Grazyna }}

{{cite journal | author=Pinto D |title=Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families |journal=Epilepsia |volume=47 |issue= 10 |pages= 1743–6 |year= 2006 |pmid= 17054699 |doi= 10.1111/j.1528-1167.2006.00676.x |name-list-format=vanc| author2=Louwaars S | author3=Westland B | display-authors=3 | last4=Volkers | first4=Linda | last5=De Haan | first5=Gerrit-Jan | last6=Trenité | first6=Dorothée G.A. Kasteleijn-Nolst | last7=Lindhout | first7=Dick | last8=Koeleman | first8=Bobby P.C. }}

{{cite journal | author=Stogmann E |title=Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations |journal=Neurology |volume=67 |issue= 11 |pages= 2029–31 |year= 2007 |pmid= 17159113 |doi= 10.1212/01.wnl.0000250254.67042.1b |name-list-format=vanc| author2=Lichtner P | author3=Baumgartner C | display-authors=3 | last4=Bonelli | first4=S. | last5=Assem-Hilger | first5=E. | last6=Leutmezer | first6=F. | last7=Schmied | first7=M. | last8=Hotzy | first8=C. | last9=Strom | first9=T. M. }}

{{cite journal | author=Annesi F |title=Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy |journal=Epilepsia |volume=48 |issue= 9 |pages= 1686–90 |year= 2007 |pmid= 17634063 |doi= 10.1111/j.1528-1167.2007.01173.x |name-list-format=vanc| author2=Gambardella A | author3=Michelucci R | display-authors=3 | last4=Bianchi | first4=Amedeo | last5=Marini | first5=Carla | last6=Canevini | first6=Maria Paola | last7=Capovilla | first7=Giuseppe | last8=Elia | first8=Maurizio | last9=Buti | first9=Daniela }}

1 : EF-hand-containing proteins