Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 101

Similar articles for PubMed (Select 19553149)

1.

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27.

2.

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M.

Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5.

3.

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ.

Nat Genet. 2000 Jun;25(2):205-8.

PMID:
10835638
4.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B.

Nat Genet. 2000 Nov;26(3):365-9. Erratum in: Nat Genet 2000 Dec;26(4):501.

PMID:
11062482
5.

Novel mutations of NODAL gene in Chinese patients with congenital heart disease.

Sun L, Cheng L, Dong H, Wang B, Huang G, Li Z, Xie X, Shen A, Li X, Wang J, Li H, Ma X.

Genet Test Mol Biomarkers. 2012 Apr;16(4):306-9. doi: 10.1089/gtmb.2011.0101. Epub 2012 Feb 21.

PMID:
22352765
6.

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM.

Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8.

7.

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M.

Hum Genet. 2009 May;125(4):393-400. doi: 10.1007/s00439-009-0628-7. Epub 2009 Jan 31.

8.

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.

Dis Model Mech. 2013 Mar;6(2):537-43. doi: 10.1242/dmm.010132. Epub 2012 Dec 20.

9.

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Pineda-Alvarez DE, Roessler E, Hu P, Srivastava K, Solomon BD, Siple CE, Fan CM, Muenke M.

Hum Genet. 2012 Feb;131(2):301-10. doi: 10.1007/s00439-011-1078-6. Epub 2011 Aug 13.

10.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

Curr Opin Neurol. 2003 Apr;16(2):135-41. Review.

PMID:
12644739
11.

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M.

Hum Genet. 2002 May;110(5):422-8. Epub 2002 Apr 10.

PMID:
12073012
12.

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.

Nat Genet. 1996 Nov;14(3):357-60.

PMID:
8896572
13.

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.

Taniguchi K, Anderson AE, Sutherland AE, Wotton D.

PLoS Genet. 2012;8(2):e1002524. doi: 10.1371/journal.pgen.1002524. Epub 2012 Feb 23.

14.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M.

Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090.

15.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.

Hum Mol Genet. 1999 Dec;8(13):2479-88.

16.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones M, Chandrasekharappa S, Richieri-Costa A, Muenke M.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):912-7. doi: 10.1002/bdra.23047. Epub 2012 Jul 27.

17.
18.

The Cerberus/Dan-family protein Charon is a negative regulator of Nodal signaling during left-right patterning in zebrafish.

Hashimoto H, Rebagliati M, Ahmad N, Muraoka O, Kurokawa T, Hibi M, Suzuki T.

Development. 2004 Apr;131(8):1741-53.

19.

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M.

Am J Hum Genet. 2007 Nov;81(5):987-94. Epub 2007 Sep 28.

20.

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B.

Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk