Similar articles for PMID: 21842183

Year	Number of Results
1996	2
1997	1
1998	2
1999	3
2000	4
2001	1
2002	2
2003	3
2004	4
2005	4
2006	3
2007	7
2008	8
2009	11
2010	11
2011	6
2012	13
2013	6
2014	6
2015	4
2016	7
2017	3
2018	7
2019	3
2020	7
2021	5
2022	3
2023	3
2024	1

1

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. Pineda-Alvarez DE, et al. Hum Genet. 2012 Feb;131(2):301-10. doi: 10.1007/s00439-011-1078-6. Epub 2011 Aug 13. Hum Genet. 2012. PMID: 21842183 Free PMC article.

2

A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1.

Martinelli DC, Fan CM. Martinelli DC, et al. J Biol Chem. 2009 Jul 17;284(29):19169-72. doi: 10.1074/jbc.C109.011957. Epub 2009 May 28. J Biol Chem. 2009. PMID: 19478089 Free PMC article.

3

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT. Seppala M, et al. J Clin Invest. 2007 Jun;117(6):1575-84. doi: 10.1172/JCI32032. Epub 2007 May 24. J Clin Invest. 2007. PMID: 17525797 Free PMC article.

4

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS. Bae GU, et al. Am J Hum Genet. 2011 Aug 12;89(2):231-40. doi: 10.1016/j.ajhg.2011.07.001. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802063 Free PMC article.

5

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.

Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A. Ribeiro LA, et al. Am J Med Genet A. 2010 Jul;152A(7):1688-94. doi: 10.1002/ajmg.a.33466. Am J Med Genet A. 2010. PMID: 20583177

6

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. Nanni L, et al. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

7

GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.

Marczenke M, Sunaga-Franze DY, Popp O, Althaus IW, Sauer S, Mertins P, Christ A, Allen BL, Willnow TE. Marczenke M, et al. Development. 2021 Nov 1;148(21):dev200080. doi: 10.1242/dev.200080. Epub 2021 Nov 11. Development. 2021. PMID: 34698766 Free PMC article.

8

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

Taniguchi K, Anderson AE, Sutherland AE, Wotton D. Taniguchi K, et al. PLoS Genet. 2012;8(2):e1002524. doi: 10.1371/journal.pgen.1002524. Epub 2012 Feb 23. PLoS Genet. 2012. PMID: 22383895 Free PMC article.

9

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE. Schell-Apacik C, et al. Hum Genet. 2003 Jul;113(2):170-7. doi: 10.1007/s00439-003-0950-4. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709790

10

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Gregory LC, Gaston-Massuet C, Andoniadou CL, Carreno G, Webb EA, Kelberman D, McCabe MJ, Panagiotakopoulos L, Saldanha JW, Spoudeas HA, Torpiano J, Rossi M, Raine J, Canham N, Martinez-Barbera JP, Dattani MT. Gregory LC, et al. Clin Endocrinol (Oxf). 2015 May;82(5):728-38. doi: 10.1111/cen.12637. Epub 2014 Dec 9. Clin Endocrinol (Oxf). 2015. PMID: 25327282

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