Joubert syndrome

Literature (5)

Literature for DOID 0050777: Joubert syndrome

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

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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.
Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.
Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.

Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.

Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.

Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.