DiGeorge syndrome

Literature (8)

Literature for DOID 11198: DiGeorge syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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A dominant-negative form of the E3 ubiquitin ligase Cullin-1 disrupts the correct allocation of cell fate in the neural crest lineage., Voigt J,Papalopulu N, Development. February 1, 2006; 133(3):1477-9129.
XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis., Ataliotis P,Ivins S,Mohun TJ,Scambler PJ, Dev Dyn. April 1, 2005; 232(4):1058-8388.
Paraxial T-box genes, Tbx6 and Tbx1, are required for cranial chondrogenesis and myogenesis., Tazumi S,Yabe S,Uchiyama H, Dev Biol. October 15, 2010; 346(2):1095-564X.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R,Ververi A,Beleza-Meireles A,Ji W,Mis E,Patterson QT,Griffin JN,Bhujel N,Chang CA,Dixit A,Konstantino M,Healy C,Hannan S,Neo N,Cash A,Li D,Bhoj E,Zackai EH,Cleaver R,Baralle D,McEntagart M,Newbury-Ecob R,Scott R,Hurst JA,Au PYB,Hosey MT,Khokha M,Marciano DK,Lakhani SA,Liu KJ,Liu KJ, Hum Mol Genet. July 21, 2020; 29(11):1460-2083.
Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., Lansdon LA,Dickinson A,Arlis S,Liu H,Hlas A,Hahn A,Bonde G,Long A,Standley J,Tyryshkina A,Wehby G,Lee NR,Daack-Hirsch S,Mohlke K,Girirajan S,Darbro BW,Cornell RA,Houston DW,Murray JC,Manak JR, Am J Hum Genet. January 5, 2023; 110(1):1537-6605.

A dominant-negative form of the E3 ubiquitin ligase Cullin-1 disrupts the correct allocation of cell fate in the neural crest lineage., Voigt J,Papalopulu N, Development. February 1, 2006; 133(3):1477-9129.

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis., Ataliotis P,Ivins S,Mohun TJ,Scambler PJ, Dev Dyn. April 1, 2005; 232(4):1058-8388.

Paraxial T-box genes, Tbx6 and Tbx1, are required for cranial chondrogenesis and myogenesis., Tazumi S,Yabe S,Uchiyama H, Dev Biol. October 15, 2010; 346(2):1095-564X.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R,Ververi A,Beleza-Meireles A,Ji W,Mis E,Patterson QT,Griffin JN,Bhujel N,Chang CA,Dixit A,Konstantino M,Healy C,Hannan S,Neo N,Cash A,Li D,Bhoj E,Zackai EH,Cleaver R,Baralle D,McEntagart M,Newbury-Ecob R,Scott R,Hurst JA,Au PYB,Hosey MT,Khokha M,Marciano DK,Lakhani SA,Liu KJ,Liu KJ, Hum Mol Genet. July 21, 2020; 29(11):1460-2083.

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., Lansdon LA,Dickinson A,Arlis S,Liu H,Hlas A,Hahn A,Bonde G,Long A,Standley J,Tyryshkina A,Wehby G,Lee NR,Daack-Hirsch S,Mohlke K,Girirajan S,Darbro BW,Cornell RA,Houston DW,Murray JC,Manak JR, Am J Hum Genet. January 5, 2023; 110(1):1537-6605.