A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression

Autor: Sumeda Nandadasa, Cyril Burin des Roziers, Christopher Koch, Karin Tran-Lundmark, María T. Dours-Zimmermann, Dieter R. Zimmermann, Sophie Valleix, Suneel S. Apte

Publikováno v: Matrix Biology Plus, Vol 10, Iss , Pp 100064- (2021)

Two inherent challenges in the mechanistic interpretation of protease-deficient phenotypes are defining the specific substrate cleavages whose reduction generates the phenotypes and determining whether the phenotypes result from loss of substrate fun

Externí odkaz: https://doaj.org/article/05b26508a52446369487b95a2ee971df

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant

Autor: Thomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, Laurence Pacot, Audrey Briand-Suleau, Albain Chansavang, Aurélie Toussaint, Véronique Duchossoy, Nicolas Vaucouleur, Virginie Benoit, Laurence Lodé, Clémence Molac, Marie-Odile North, Sarah Grotto, Vassilis Tsatsaris, Anne Jouinot, Béatrix Cochand-Priollet, Anne-Cécile Paepegaey, Juliette Nectoux, Lionel Groussin, Eric Pasmant

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 107:e1367-e1373

Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09899c1e5c14d5ce5eb7f3e051b5e4c3
https://doi.org/10.1210/clinem/dgab894

Contributors

Autor: Tomas S. Aleman, Patrizia Amati-Bonneau, Benoît Arveiler, Jane L. Ashworth, Isabelle Audo, Giacomo M. Bacci, Nicole Balducci, Irina Balikova, Miriam Bauwens, Piero Barboni, Johannes Birtel, Susmito Biswas, Graeme C.M. Black, Catherine Blanchet, Béatrice Bocquet, Camiel J.F. Boon, Antoine Brézin, Cyril Burin des Roziers, Emma Burkitt-Wright, Michele Callea, Michele Carbonelli, Valerio Carelli, Jasmina Cehajic-Kapetanovic, Kate E. Chandler, Aman Chandra, Jill Clayton-Smith, Johanna M. Colijn, Frauke Coppieters, Catherine A. Cukras, Avril Daly, Elfride De Baere, Julie De Zaeytijd, Arundhati Dev Borman, Hélène Dollfus, Sofia Douzgou Houge, Elizabeth C. Engle, Pascal Escher, D. Gareth Evans, Kristina Teär Fahnehjelm, Christina Fasser, Mathieu Fiore, Kaoru Fujinami, Yu Fujinami-Yokokawa, Brenda L. Gallie, Michalis Georgiou, Martin Gliem, Monika K. Grudzinska Pechhacker, Georgina Hall, Wolf M. Harmening, Robert H. Henderson, Elise Héon, Nashila Hirji, Frank G. Holz, Laryssa A. Huryn, Elizabeth A. Jones, Vasiliki Kalatzis, Arif O. Khan, Ungsoo S. Kim, Caroline C.W. Klaver, Neruban Kumaran, Chiara La Morgia, Fiona Lalloo, Eulalie Lasseaux, Helena Lee, Guy Lenaers, Eva Lenassi, Bart P. Leroy, Petra Liskova, I. Christopher Lloyd, Robert E. MacLaren, Omar A. Mahroo, Alvaro J. Mejia-Vergara, Isabelle Meunier, Michel Michaelides, Anthony T. Moore, Mariya Moosajee, Fanny Morice-Picard, Francis L. Munier, Magella M. Neveu, Erin C. O'Neil, Anna Nordenström, Neil R.A. Parry, Maria I. Patrício, Manoj V. Parulekar, Dipak Ram, Simon C. Ramsden, Johane Robitaille, Anthony G. Robson, Pierre-Raphaël Rothschild, Alfredo A. Sadun, Kaspar Schuerch, Miguel C. Seabra, Jay E. Self, Panagiotis I. Sergouniotis, Fadi Shaya, Paul A. Sieving, Ine Strubbe, Francesca Simonelli, Kent W. Small, Martin P. Snead, Karolina M. Stepien, Mays Talib, Rachel L. Taylor, Francesco Testa, Alberta A.H.J. Thiadens, Elias I. Traboulsi, Viet H. Tran, Veronika Vaclavik, Sophie Valleix, Caroline Van Cauwenbergh, Kristof Van Schil, Mary C. Whitman, Colin E. Willoughby, Kanmin Xue, Jingyan Yang, Patrick Yu-Wai-Man, Christina Zeitz, Martin Zinkernagel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::443fea97f8aa209eb7749fe6b0bb2a99
https://doi.org/10.1016/b978-0-12-813944-8.09991-1

A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression

Autor: Cyril Burin des Roziers, Sophie Valleix, Dieter R. Zimmermann, Sumeda Nandadasa, Christopher D. Koch, María T. Dours-Zimmermann, Karin Tran-Lundmark, Suneel S. Apte

Publikováno v: Matrix Biology Plus, Vol 10, Iss, Pp 100064-(2021)
Matrix Biology Plus

Highlights • • A novel Vcan mouse allele, VcanAA, has ADAMTS protease-resistant versican. • • VcanAA/AA mice are viable and develop soft tissue-syndactyly (STS) • • VcanAA/AA STS is rendered more severe in combination with Adamts20Bt/Bt.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bdf2bb526f3e2eec4442fd26579015
https://doi.org/10.1016/j.mbplus.2021.100064

One

Autor: Laurence, Pacot, Cyril, Burin des Roziers, Ingrid, Laurendeau, Audrey, Briand-Suleau, Audrey, Coustier, Théodora, Mayard, Camille, Tlemsani, Laurence, Faivre, Quentin, Thomas, Diana, Rodriguez, Sophie, Blesson, Hélène, Dollfus, Yvon-Gauthier, Muller, Béatrice, Parfait, Michel, Vidaud, Brigitte, Gilbert-Dussardier, Catherine, Yardin, Benjamin, Dauriat, Christian, Derancourt, Dominique, Vidaud, Eric, Pasmant

Publikováno v: Genes

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::097d94bd66b08b9a68ef3a47d1bb332d
https://pubmed.ncbi.nlm.nih.gov/31443423