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Keywords: Ciliopathy
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Journal Articles

Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors

Open Access
In collection:
Zebrafish as a Disease Model
Hung-Ju Chiang, Yuko Nishiwaki, Wei-Chieh Chiang, Ichiro Masai
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (7): dmm050618.
https://doi.org/10.1242/dmm.050618
Published: 16 July 2024
.... Zebrafish Photoreceptor degeneration MAK Ciliopathy Ciliogenesis Okinawa Institute of Science and Technology Graduate University http://dx.doi.org/10.13039/501100004199 The vertebrate photoreceptor is highly compartmentalized to form specialized structures related...
View articletitled, Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors
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Includes: Supplementary data
Journal Articles

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

Open Access
In collection:
Rare Disease Translational Research
Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050561.
https://doi.org/10.1242/dmm.050561
Published: 28 June 2024
..., although modelling many aspects of Alström syndrome, only weakly recapitulate the severe biphasic cardiomyopathy seen in humans. Adult female mice at 23 weeks show early systolic and diastolic dysfunction. ALMS1 Alström syndrome Alstrom syndrome Heart Cardiomyopathy Ciliopathy Primary cilia...
View articletitled, Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
Open the PDF for Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy in another window
Includes: Supplementary data
Journal Articles

Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation

Open Access
In collection:
Zebrafish as a Disease Model
Rouknuddin Q. Ali, Anne Meyer-Miner, Marie David-Rachel, Fiona J. H. Lee, Benjamin J. Wilkins, Saul J. Karpen, Brian Ciruna, Anand Ghanekar, Binita M. Kamath
Journal: Disease Models & Mechanisms
Dis Model Mech (2023) 16 (10): dmm049326.
https://doi.org/10.1242/dmm.049326
Published: 11 October 2023
... Ciliopathy Bile duct Canadian Liver Foundation http://dx.doi.org/10.13039/501100000264 Children's Hospital of Philadelphia http://dx.doi.org/10.13039/100006458 Rare Disease Foundation http://dx.doi.org/10.13039/100012280 BC Children's Hospital Foundation http...
View articletitled, Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation
Open the PDF for Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation in another window
Journal Articles

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Open Access
Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
Journal: Disease Models & Mechanisms
Dis Model Mech (2015) 8 (6): 527–541.
https://doi.org/10.1242/dmm.019083
Published: 1 June 2015
...Zakia A. Abdelhamed; Subaashini Natarajan; Gabrielle Wheway; Christopher F. Inglehearn; Carmel Toomes; Colin A. Johnson; Daniel J. Jagger ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human...
View articletitled, The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
Open the PDF for The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway in another window
Includes: Supplementary data