C
Clare V. Logan
Researcher at University of Edinburgh
Publications - 60
Citations - 5178
Clare V. Logan is an academic researcher from University of Edinburgh. The author has contributed to research in topics: Cilium & Ciliopathies. The author has an hindex of 36, co-authored 59 publications receiving 4400 citations. Previous affiliations of Clare V. Logan include St James's University Hospital & University of Leeds.
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Journal ArticleDOI
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel,Jennifer L. Silhavy,Stephanie L. Bielas,Dominika Swistun,Sarah E. Marsh,Julien Y. Bertrand,Sophie Audollent,Tania Attié-Bitach,Kenton R. Holden,William B. Dobyns,David Traver,Lihadh Al-Gazali,Bassam R. Ali,Tom H. Lindner,Tamara Caspary,Edgar A. Otto,Friedhelm Hildebrandt,Ian A. Glass,Clare V. Logan,Colin A. Johnson,Christopher P. Bennett,Francesco Brancati,Enza Maria Valente,C. Geoffrey Woods,Joseph G. Gleeson +24 more
TL;DR: Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant, indicating an evolutionarily conserved role mediating cilia function in multiple organs.
Journal ArticleDOI
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Journal ArticleDOI
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Clare V. Logan,Gyorgy Szabadkai,Gyorgy Szabadkai,Jenny Sharpe,David A. Parry,Silvia Torelli,Anne-Marie Childs,Marjolein Kriek,Rahul Phadke,Rahul Phadke,Colin A. Johnson,Nicola Roberts,David T. Bonthron,Karen Pysden,Tamieka Whyte,Iulia Munteanu,A. Reghan Foley,Gabrielle Wheway,Katarzyna Szymanska,Subaashini Natarajan,Zakia Abdelhamed,Joanne E. Morgan,Helen Roper,Gijs W. E. Santen,Erik H. Niks,W. Ludo van der Pol,Dick Lindhout,Anna Raffaello,Diego De Stefani,Johan T. den Dunnen,Yu Sun,Ieke B. Ginjaar,Caroline Sewry,Caroline Sewry,Matthew E. Hurles,Rosario Rizzuto,Michael R. Duchen,Francesco Muntoni,Eamonn Sheridan +38 more
TL;DR: In this paper, the authors reported mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder.
Journal ArticleDOI
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Hemant Khanna,Erica E. Davis,Carlos Murga-Zamalloa,Alejandro Estrada-Cuzcano,Irma Lopez,Anneke I. den Hollander,Marijke N. Zonneveld,Mohammad Othman,Naushin Waseem,Christina Chakarova,Cécilia Maubaret,Anna Diaz-Font,Ian M. MacDonald,Donna M. Muzny,David A. Wheeler,Margaret Morgan,Lora Lewis,Clare V. Logan,Perciliz L. Tan,Michael A. Beer,Chris F. Inglehearn,Richard A. Lewis,Samuel G. Jacobson,Carsten Bergmann,Philip L. Beales,Tania Attié-Bitach,Colin A. Johnson,Edgar A. Otto,Shomi S. Bhattacharya,Friedhelm Hildebrandt,Richard A. Gibbs,Robert K. Koenekoop,Anand Swaroop,Anand Swaroop,Nicholas Katsanis +34 more
TL;DR: It is demonstrated that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber and Joubert syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes.
Journal ArticleDOI
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.