Joubert Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Joubert syndrome and neurofibromatosis type 1
Rev Neurol. 2022 May 1;74(9):312-313. doi: 10.33588/rn.7409.2021446.NO ABSTRACTPMID:35484703 | DOI:10.33588/rn.7409.2021446 (Source: Revista de Neurologia)
Source: Revista de Neurologia - April 29, 2022 Category: Neurology Authors: M E V ázquez-López M Silveira-Cancela L Loidi-Fern ández L P érez-Gay P Pena-Gil C Juberias-Alzueta R P érez-Pacín Source Type: research

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
CONCLUSION: Our study introduced a novel variant in the CEP104 gene that results in an ID phenotype other than JBTS25. Comparison of her phenotype with that of eight previously published DD/ID patients harboring pathogenic variants in CEP104 gene revealed that more than half of them did not show JBTS related symptoms. Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emerged in the OMIM database.PMID:35359234 | DOI:10.1007/s11033-022-07353-w (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 1, 2022 Category: Molecular Biology Authors: Reza Shervin Badv Mojdeh Mahdiannasser Maryam Rasoulinezhad Laleh Habibi Ali Rashidi-Nezhad Source Type: research

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome
Conclusion: The findings in this study expanded the mutation spectrum of ARMC9-associated JS, and we suggested that the function of ARMC9 in the pathogenesis of JS might involve the development of primary cilia, after discussing the function of the ARMC9 protein. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 4, 2022 Category: Genetics & Stem Cells Source Type: research

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
CONCLUSIONS: The genetic variation spectrum of JS caused by CPLANE1 was updated. Two novel variants further deepened our insight into the disease's molecular mechanism and confirmed the significance of diagnostic whole-exome sequencing.PMID:35092359 | DOI:10.1002/mgg3.1877 (Source: Molecular Medicine)
Source: Molecular Medicine - January 29, 2022 Category: Molecular Biology Authors: Hongjun Fei Yi Wu Yanlin Wang Junyu Zhang Source Type: research