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Journal Abstract Search

333 related items for PubMed ID: 23055936

  • 1. Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.
    Dennis JF, Kurosaka H, Iulianella A, Pace J, Thomas N, Beckham S, Williams T, Trainor PA.
    PLoS Genet; 2012; 8(10):e1002927. PubMed ID: 23055936
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  • 2. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
    Hong M, Krauss RS.
    PLoS Genet; 2012; 8(10):e1002999. PubMed ID: 23071453
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  • 3. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
    Hong M, Krauss RS.
    PLoS One; 2013; 8(11):e79269. PubMed ID: 24244464
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  • 4. Noggin null allele mice exhibit a microform of holoprosencephaly.
    Lana-Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis TA, Graf D, Rice R, Luyten FP, Rice DP.
    Hum Mol Genet; 2011 Oct 15; 20(20):4005-15. PubMed ID: 21821669
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  • 11. The relationship between sonic Hedgehog signaling, cilia, and neural tube defects.
    Murdoch JN, Copp AJ.
    Birth Defects Res A Clin Mol Teratol; 2010 Aug 15; 88(8):633-52. PubMed ID: 20544799
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  • 14. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
    Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M.
    Hum Mol Genet; 1999 Sep 15; 8(9):1683-9. PubMed ID: 10441331
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  • 16. Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.
    Cordero D, Marcucio R, Hu D, Gaffield W, Tapadia M, Helms JA.
    J Clin Invest; 2004 Aug 15; 114(4):485-94. PubMed ID: 15314685
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  • 17. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
    Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE.
    Hum Genet; 2003 Jul 15; 113(2):170-7. PubMed ID: 12709790
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  • 18. 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.
    Am J Hum Genet; 2011 Aug 12; 89(2):231-40. PubMed ID: 21802063
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  • 19. Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly.
    Hong M, Christ A, Christa A, Willnow TE, Krauss RS.
    Elife; 2020 Sep 02; 9():. PubMed ID: 32876567
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  • 20. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
    Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM.
    Hum Mol Genet; 2008 Oct 01; 17(19):2986-96. PubMed ID: 18617531
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