T
Tania Attié-Bitach
Researcher at Necker-Enfants Malades Hospital
Publications - 221
Citations - 12630
Tania Attié-Bitach is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Gene & Ciliopathies. The author has an hindex of 62, co-authored 196 publications receiving 11196 citations. Previous affiliations of Tania Attié-Bitach include French Institute of Health and Medical Research & Paris Descartes University.
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Journal ArticleDOI
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel,Béatrice Laudier,Tania Attié-Bitach,Ha Trang,Loïc de Pontual,Blanca Gener,Delphine Trochet,Heather C. Etchevers,Pierre F. Ray,Michel Simonneau,Michel Vekemans,Arnold Munnich,Claude Gaultier,Stanislas Lyonnet +13 more
TL;DR: An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.
Journal ArticleDOI
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté Encha-Razavi,Nathalie Boddaert,Marie Gonzales,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider-Maunoury,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
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
The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat
Ursula M Smith,Mark B. Consugar,Louise J. Tee,Brandy M McKee,Esther N. Maina,Shelly Whelan,Neil V. Morgan,Erin N. Goranson,Paul Gissen,Paul Gissen,Stacie Lilliquist,Irene A. Aligianis,Christopher J. Ward,Shanaz Pasha,Rachaneekorn Punyashthiti,Saghira Malik Sharif,Philip A Batman,Christopher P. Bennett,C. Geoffrey Woods,Carole McKeown,Martine Bucourt,Caroline A. Miller,Phillip Cox,Lihadh Al-Gazali,Richard C. Trembath,Vicente E. Torres,Tania Attié-Bitach,Deirdre Kelly,Eamonn R. Maher,Vincent H. Gattone,Peter C. Harris,Colin A. Johnson +31 more
TL;DR: Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system, hepatic ductal Dysplasia and cysts and polydactyly, and a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression.