A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

Autor: Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

Publikováno v: Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)

Summary: The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric condi

Externí odkaz: https://doaj.org/article/d95a7e66dd6f4400b94ec2e97ad2e7b3

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia

Autor: Hayley Gibson, Rossana Sanchez Russo, Stephen P. Robertson, Timothy R. Morgan, Cara M. Skraban, Zandra A. Jenkins, Gregory Gimenez, Hui Peng, Emma M. Wade, Emma Bedoukian

Publikováno v: American journal of medical genetics. Part AREFERENCES. 185(12)

Pathogenic variation in the X-linked gene FLNA causes a wide range of human developmental phenotypes. Loss-of-function is usually male embryonic-lethal, and most commonly results in a neuronal migration disorder in affected females. Gain-of-function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d310436249956bafef4c0bd7f09143
https://pubmed.ncbi.nlm.nih.gov/34272929

Differential regulation of twoFLNAtranscripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

Autor: Stephen P. Robertson, Zandra A. Jenkins, Tracy Dudding, Margriet van Kogelenberg, Alison Macharg, George McGillivray, Stuart Sugito, Jacek Pilch, Raj P. Kapur, Nicola Foulds, Sophia Frentz, Mark C. Hannibal, Cheng Yee Chang, Sixto García-Miñaur, Scott Nightingale, David Markie, Richard J. Leventer, Timothy R. Morgan, Wenhua Wei

Publikováno v: Human Mutation. 39:103-113

Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bb3aadd28906fd00206706b1af6d87
https://doi.org/10.1002/humu.23355

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Autor: Axel Bohring, Tae Joon Cho, Chong Ae Kim, Teresa Neuhann, Lesley C. Adès, Débora Romeo Bertola, Irma E Veenstra-Knol, Eva Morava, Erin Carter, Deborah Krakow, Aideen M. McInerney-Leo, Dagmar Wieczorek, Andrew J. Sutherland-Smith, Zandra A. Jenkins, Elaine Fletcher, Philip B. Daniel, Andrew O.M. Wilkie, Emma M. Wade, Tim M. Strom, Matthew A. Brown, Timothy R. Morgan, Raoul C.M. Hennekam, Stephen P. Robertson, David Markie, Hans Christoph Duba, Emma L. Duncan, Paul Leo, Louise C. Wilson, Andrea Superti-Furga, Marie-Claude Addor

Publikováno v: Am. J. Hum. Genet. 99, 392-406 (2016)
American Journal of Human Genetics, 99(2), 392-406. CELL PRESS
American journal of human genetics, 99(2), 392-406. Cell Press
American journal of human genetics, vol. 99, no. 2, pp. 392-406

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8549d944c149b7306c6dd504f8ab1
https://research.rug.nl/en/publications/ee18ca76-2bce-467e-880a-1b186e1ee45f

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Autor: Christa M. de Geus, Débora Romeo Bertola, Teresa Neuhann, David Sillence, Eva Morava, Deborah Krakow, Timothy R. Morgan, Elaine Fletcher, Philip B. Daniel, Chong Ae Kim, Lesley C. Adès, Tae Joon Cho, Hans Christoph Duba, David Markie, Dagmar Wieczorek, Hermine E. Veenstra-Knol, Louise C. Wilson, Emma M. Wade, Andrea Superti-Furga, Zandra A. Jenkins, Marie C. Addor, Stephen P. Robertson, Kinga Hadzsiev, Axel Bohring, Erin Carter, Raoul C.M. Hennekam

Publikováno v: American Journal of Medical Genetics. Part A, 173(7), 1739-1746. Wiley
American journal of medical genetics. Part A, 173(7), 1739-1746. Wiley-Liss Inc.

Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff229157b6be38cea38a320534fc3714
https://research.rug.nl/en/publications/0b321545-2b61-40b5-91cd-aee2ef46df8b