cerebral degeneration

Summary

Literature (8)

Literature for DOID 1443: cerebral degeneration

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

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Notch in vertebrates., Robey E, Curr Opin Genet Dev. August 1, 1997; 7(4):0959-437X.
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E,López-Hernández T,Capdevila-Nortes X,Sirisi S,Bengtsson L,Montolio M,Zifarelli G,Arnedo T,Müller CS,Schulte U,Nunes V,Martínez A,Jentsch TJ,Gasull X,Pusch M,Estévez R, Neuron. March 8, 2012; 73(5):0896-6273.
Ciliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1., Hagenlocher C,Walentek P,M Ller C,Thumberger T,Feistel K, Cilia. April 29, 2013; 2(1):2046-2530.
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus., Date P,Ackermann P,Furey C,Fink IB,Jonas S,Khokha MK,Kahle KT,Deniz E, Sci Rep. April 17, 2019; 9(1):2045-2322.
CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.
The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes., Marquez J,Mann N,Arana K,Deniz E,Ji W,Konstantino M,Mis EK,Deshpande C,Jeffries L,McGlynn J,Hugo H,Widmeier E,Konrad M,Tasic V,Morotti R,Baptista J,Ellard S,Lakhani SA,Hildebrandt F,Khokha MK, J Med Genet. July 1, 2021; 58(7):1468-6244.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.

Notch in vertebrates., Robey E, Curr Opin Genet Dev. August 1, 1997; 7(4):0959-437X.

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E,López-Hernández T,Capdevila-Nortes X,Sirisi S,Bengtsson L,Montolio M,Zifarelli G,Arnedo T,Müller CS,Schulte U,Nunes V,Martínez A,Jentsch TJ,Gasull X,Pusch M,Estévez R, Neuron. March 8, 2012; 73(5):0896-6273.

Ciliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1., Hagenlocher C,Walentek P,M Ller C,Thumberger T,Feistel K, Cilia. April 29, 2013; 2(1):2046-2530.

Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus., Date P,Ackermann P,Furey C,Fink IB,Jonas S,Khokha MK,Kahle KT,Deniz E, Sci Rep. April 17, 2019; 9(1):2045-2322.

CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.

The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes., Marquez J,Mann N,Arana K,Deniz E,Ji W,Konstantino M,Mis EK,Deshpande C,Jeffries L,McGlynn J,Hugo H,Widmeier E,Konrad M,Tasic V,Morotti R,Baptista J,Ellard S,Lakhani SA,Hildebrandt F,Khokha MK, J Med Genet. July 1, 2021; 58(7):1468-6244.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.