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Items: 1 to 20 of 101

1.

Novel IFT140 variants cause spermatogenic dysfunction in humans.

Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu CC, Wang J.

Mol Genet Genomic Med. 2019 Aug 8:e920. doi: 10.1002/mgg3.920. [Epub ahead of print]

2.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.

Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers EMHF.

Cilia. 2018 Feb 23;7:1. doi: 10.1186/s13630-018-0055-2. eCollection 2018.

3.

Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.

Zhang Y, Liu H, Li W, Zhang Z, Zhang S, Teves ME, Stevens C, Foster JA, Campbell GE, Windle JJ, Hess RA, Pazour GJ, Zhang Z.

Cytoskeleton (Hoboken). 2018 Feb;75(2):70-84. doi: 10.1002/cm.21427. Epub 2018 Jan 8.

4.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.

Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.

5.

Intraflagellar transporter protein (IFT27), an IFT25 binding partner, is essential for male fertility and spermiogenesis in mice.

Zhang Y, Liu H, Li W, Zhang Z, Shang X, Zhang D, Li Y, Zhang S, Liu J, Hess RA, Pazour GJ, Zhang Z.

Dev Biol. 2017 Dec 1;432(1):125-139. doi: 10.1016/j.ydbio.2017.09.023. Epub 2017 Sep 28.

6.

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.

Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzène T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Touré A, Arnoult C, Ray PF, Coutton C.

Hum Reprod. 2018 Oct 1;33(10):1973-1984. doi: 10.1093/humrep/dey264.

PMID:
30137358
7.

Expression of IFT140 During Bone Development.

Zhang C, Zhang S, Sun Y.

J Histochem Cytochem. 2019 Jun 25:22155419859357. doi: 10.1369/0022155419859357. [Epub ahead of print]

PMID:
31238004
8.

The Role of IFT140 in Osteogenesis of Adult Mice Long Bone.

Tao D, Xue H, Zhang C, Li G, Sun Y.

J Histochem Cytochem. 2019 Aug;67(8):601-611. doi: 10.1369/0022155419847188. Epub 2019 Apr 29.

PMID:
31034313
9.

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R.

Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28.

10.

Essential Role of IFT140 in Promoting Dentinogenesis.

Li G, Liu M, Zhang S, Wan H, Zhang Q, Yue R, Yan X, Wang X, Wang Z, Sun Y.

J Dent Res. 2018 Apr;97(4):423-431. doi: 10.1177/0022034517741283. Epub 2017 Dec 1.

PMID:
29195058
11.

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzène T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF.

Hum Reprod. 2016 Dec;31(12):2872-2880. Epub 2016 Oct 26.

PMID:
27798045
12.

IFT25, an intraflagellar transporter protein dispensable for ciliogenesis in somatic cells, is essential for sperm flagella formation.

Liu H, Li W, Zhang Y, Zhang Z, Shang X, Zhang L, Zhang S, Li Y, Somoza AV, Delpi B, Gerton GL, Foster JA, Hess RA, Pazour GJ, Zhang Z.

Biol Reprod. 2017 May 1;96(5):993-1006. doi: 10.1093/biolre/iox029.

13.

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR.

Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.

PMID:
27874174
14.

Intraflagellar transport protein 74 is essential for spermatogenesis and male fertility in mice†.

Shi L, Zhou T, Huang Q, Zhang S, Li W, Zhang L, Hess RA, Pazour GJ, Zhang Z.

Biol Reprod. 2019 Jul 1;101(1):188-199. doi: 10.1093/biolre/ioz071.

PMID:
31004481
15.

Intraflagellar transport protein IFT20 is essential for male fertility and spermiogenesis in mice.

Zhang Z, Li W, Zhang Y, Zhang L, Teves ME, Liu H, Strauss JF 3rd, Pazour GJ, Foster JA, Hess RA, Zhang Z.

Mol Biol Cell. 2016 Sep 28. pii: mbc.E16-05-0318. [Epub ahead of print]

16.

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE.

Hum Genomics. 2017 Jul 19;11(1):16. doi: 10.1186/s40246-017-0111-9.

17.

A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia.

Picariello T, Brown JM, Hou Y, Swank G, Cochran DA, King OD, Lechtreck K, Pazour GJ, Witman GB.

J Cell Sci. 2019 Feb 11;132(3). pii: jcs220749. doi: 10.1242/jcs.220749.

18.

Distinct functions for IFT140 and IFT20 in opsin transport.

Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ.

Cytoskeleton (Hoboken). 2014 May;71(5):302-10. doi: 10.1002/cm.21173. Epub 2014 Mar 25.

19.

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.

Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S.

Fertil Steril. 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007.

PMID:
28577616
20.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

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