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Items: 1 to 20 of 51

1.

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM.

Genome Biol. 2011 Sep 21;12(9):R91. doi: 10.1186/gb-2011-12-9-r91.

2.

Shroom3 and a Pitx2-N-cadherin pathway function cooperatively to generate asymmetric cell shape changes during gut morphogenesis.

Plageman TF Jr, Zacharias AL, Gage PJ, Lang RA.

Dev Biol. 2011 Sep 1;357(1):227-34. doi: 10.1016/j.ydbio.2011.06.027. Epub 2011 Jun 25.

3.

Geminin is required for left-right patterning through regulating Kupffer's vesicle formation and ciliogenesis in zebrafish.

Huang S, Ma J, Liu X, Zhang Y, Luo L.

Biochem Biophys Res Commun. 2011 Jul 1;410(2):164-9. doi: 10.1016/j.bbrc.2011.04.085. Epub 2011 Apr 23.

PMID:
21539812
4.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.

Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25.

5.

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M.

Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2915-20. doi: 10.1073/pnas.1019645108. Epub 2011 Jan 31.

6.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S.

J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.

PMID:
21266381
7.

Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis.

Lopes Floro K, Artap ST, Preis JI, Fatkin D, Chapman G, Furtado MB, Harvey RP, Hamada H, Sparrow DB, Dunwoodie SL.

Hum Mol Genet. 2011 Mar 15;20(6):1097-110. doi: 10.1093/hmg/ddq554. Epub 2010 Dec 28.

8.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C.

Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6.

9.

The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish.

Wang G, Cadwallader AB, Jang DS, Tsang M, Yost HJ, Amack JD.

Development. 2011 Jan;138(1):45-54. doi: 10.1242/dev.052985. Epub 2010 Nov 23.

10.

Far from solved: a perspective on what we know about early mechanisms of left-right asymmetry.

Vandenberg LN, Levin M.

Dev Dyn. 2010 Dec;239(12):3131-46. doi: 10.1002/dvdy.22450. Review.

11.

Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning.

Schneider I, Schneider PN, Derry SW, Lin S, Barton LJ, Westfall T, Slusarski DC.

Dev Biol. 2010 Dec 1;348(1):22-33. doi: 10.1016/j.ydbio.2010.08.040. Epub 2010 Sep 19.

12.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

13.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN.

Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.

PMID:
20802478
14.

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.

Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.

15.

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.

16.

Direct activation of Shroom3 transcription by Pitx proteins drives epithelial morphogenesis in the developing gut.

Chung MI, Nascone-Yoder NM, Grover SA, Drysdale TA, Wallingford JB.

Development. 2010 Apr;137(8):1339-49. doi: 10.1242/dev.044610.

17.
18.

Planar cell polarity enables posterior localization of nodal cilia and left-right axis determination during mouse and Xenopus embryogenesis.

Antic D, Stubbs JL, Suyama K, Kintner C, Scott MP, Axelrod JD.

PLoS One. 2010 Feb 2;5(2):e8999. doi: 10.1371/journal.pone.0008999.

19.

Planar polarization of node cells determines the rotational axis of node cilia.

Hashimoto M, Shinohara K, Wang J, Ikeuchi S, Yoshiba S, Meno C, Nonaka S, Takada S, Hatta K, Wynshaw-Boris A, Hamada H.

Nat Cell Biol. 2010 Feb;12(2):170-6. doi: 10.1038/ncb2020. Epub 2010 Jan 24.

PMID:
20098415
20.

Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination.

Plageman TF Jr, Chung MI, Lou M, Smith AN, Hildebrand JD, Wallingford JB, Lang RA.

Development. 2010 Feb;137(3):405-15. doi: 10.1242/dev.045369.

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