CHARGE syndrome

Literature (11)

Literature for DOID 0050834: CHARGE syndrome

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

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CHD7 cooperates with PBAF to control multipotent neural crest formation., Bajpai R,Chen DA,Rada-Iglesias A,Zhang J,Xiong Y,Helms J,Chang CP,Zhao Y,Swigut T,Wysocka J, Nature. February 18, 2010; 463(7283):0143-5221.
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance., Schulz Y,Wehner P,Opitz L,Salinas-Riester G,Bongers EM,van Ravenswaaij-Arts CM,Wincent J,Schoumans J,Kohlhase J,Borchers A,Pauli S, Hum Genet. August 1, 2014; 133(8):1432-1203.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
Sema3a plays a role in the pathogenesis of CHARGE syndrome., Ufartes R,Schwenty-Lara J,Freese L,Neuhofer C,Möller J,Wehner P,van Ravenswaaij-Arts CMA,Wong MTY,Schanze I,Tzschach A,Bartsch O,Borchers A,Pauli S, Hum Mol Genet. April 15, 2018; 27(8):1460-2083.
The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration., Schwenty-Lara J,Nehl D,Borchers A, Hum Mol Genet. January 15, 2020; 29(2):1460-2083.
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.
Using Xenopus to analyze neurocristopathies like Kabuki syndrome., Schwenty-Lara J,Pauli S,Borchers A, Genesis. February 1, 2021; 59(1-2):1526-968X.
Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.
Time-resolved quantitative proteomic analysis of the developing Xenopus otic vesicle reveals putative congenital hearing loss candidates., Baxi AB,Nemes P,Moody SA, iScience. September 15, 2023; 26(9):2589-0042.
FGFR1 variants contributed to families with tooth agenesis., Yao S,Zhou X,Zhou X,Gu M,Zhang C,Bartsch O,Vona B,Fan L,Ma L,Pan Y, Hum Genomics. October 13, 2023; 17(1):1479-7364.

CHD7 cooperates with PBAF to control multipotent neural crest formation., Bajpai R,Chen DA,Rada-Iglesias A,Zhang J,Xiong Y,Helms J,Chang CP,Zhao Y,Swigut T,Wysocka J, Nature. February 18, 2010; 463(7283):0143-5221.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance., Schulz Y,Wehner P,Opitz L,Salinas-Riester G,Bongers EM,van Ravenswaaij-Arts CM,Wincent J,Schoumans J,Kohlhase J,Borchers A,Pauli S, Hum Genet. August 1, 2014; 133(8):1432-1203.

Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

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

Sema3a plays a role in the pathogenesis of CHARGE syndrome., Ufartes R,Schwenty-Lara J,Freese L,Neuhofer C,Möller J,Wehner P,van Ravenswaaij-Arts CMA,Wong MTY,Schanze I,Tzschach A,Bartsch O,Borchers A,Pauli S, Hum Mol Genet. April 15, 2018; 27(8):1460-2083.

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration., Schwenty-Lara J,Nehl D,Borchers A, Hum Mol Genet. January 15, 2020; 29(2):1460-2083.

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.

Using Xenopus to analyze neurocristopathies like Kabuki syndrome., Schwenty-Lara J,Pauli S,Borchers A, Genesis. February 1, 2021; 59(1-2):1526-968X.

Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.

Time-resolved quantitative proteomic analysis of the developing Xenopus otic vesicle reveals putative congenital hearing loss candidates., Baxi AB,Nemes P,Moody SA, iScience. September 15, 2023; 26(9):2589-0042.

FGFR1 variants contributed to families with tooth agenesis., Yao S,Zhou X,Zhou X,Gu M,Zhang C,Bartsch O,Vona B,Fan L,Ma L,Pan Y, Hum Genomics. October 13, 2023; 17(1):1479-7364.