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Colin A Johnson

Showing results (31-40 of 132) with videos related to

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Elife|February 16, 2022
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1Katarzyna Szymanska, Karsten Boldt, Clare V Logan, et al.
Annals of Human Genetics|September 29, 2023
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failureBasudha Basu, Alice V R Lake, Becky China, et al.
Journal of Pediatric Genetics|February 21, 2022
Orthopaedic Aspects of SAMS SyndromeDirk E Schrander, Heleen M Staal, Colin A Johnson, et al.
Scientific Reports|April 2, 2019
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5Zakia A Abdelhamed, Dina I Abdelmottaleb, Mohammed E El-Asrag, et al.
Human Molecular Genetics|March 26, 2005
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insightsPaul Gissen, Colin A Johnson, Dean Gentle, et al.
Plos One|May 27, 2011
Renal cystic disease proteins play critical roles in the organization of the olfactory epitheliumJennifer L Pluznick, Diego J Rodriguez-Gil, Michael Hull, et al.
Human Mutation|November 5, 2011
Identification of autosomal recessive disease loci using out-bred nuclear familiesIan M Carr, Christine P Diggle, Nader Touqan, et al.
American Journal of Medical Genetics. Part A|November 3, 2007
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2Shagufta Khaliq, Aiysha Abid, Dominick R A White, et al.
Nature Communications|May 28, 2025
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesisManu Ahmed, Sydney Fischer, Karyn L Robert, et al.
European Journal of Human Genetics : EJHG|February 26, 2022
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher diseaseMarilena Elpidorou, James A Poulter, Katarzyna Szymanska, et al.
Pageof 14

Showing results (31-40 of 132) with videos related to

Sort By:
Pageof 14
Elife|February 16, 2022
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1Katarzyna Szymanska, Karsten Boldt, Clare V Logan, et al.
Annals of Human Genetics|September 29, 2023
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failureBasudha Basu, Alice V R Lake, Becky China, et al.
Journal of Pediatric Genetics|February 21, 2022
Orthopaedic Aspects of SAMS SyndromeDirk E Schrander, Heleen M Staal, Colin A Johnson, et al.
Scientific Reports|April 2, 2019
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5Zakia A Abdelhamed, Dina I Abdelmottaleb, Mohammed E El-Asrag, et al.
Human Molecular Genetics|March 26, 2005
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insightsPaul Gissen, Colin A Johnson, Dean Gentle, et al.
Plos One|May 27, 2011
Renal cystic disease proteins play critical roles in the organization of the olfactory epitheliumJennifer L Pluznick, Diego J Rodriguez-Gil, Michael Hull, et al.
Human Mutation|November 5, 2011
Identification of autosomal recessive disease loci using out-bred nuclear familiesIan M Carr, Christine P Diggle, Nader Touqan, et al.
American Journal of Medical Genetics. Part A|November 3, 2007
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2Shagufta Khaliq, Aiysha Abid, Dominick R A White, et al.
Nature Communications|May 28, 2025
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesisManu Ahmed, Sydney Fischer, Karyn L Robert, et al.
European Journal of Human Genetics : EJHG|February 26, 2022
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher diseaseMarilena Elpidorou, James A Poulter, Katarzyna Szymanska, et al.
Pageof 14