Agonists of prostaglandin E

Autor: Hugo, Garcia, Alice S, Serafin, Flora, Silbermann, Esther, Porée, Amandine, Viau, Clémentine, Mahaut, Katy, Billot, Éléonore, Birgy, Meriem, Garfa-Traore, Stéphanie, Roy, Salomé, Ceccarelli, Manon, Mehraz, Pamela C, Rodriguez, Bérangère, Deleglise, Laetitia, Furio, Fabienne, Jabot-Hanin, Nicolas, Cagnard, Elaine, Del Nery, Marc, Fila, Soraya, Sin-Monnot, Corinne, Antignac, Stanislas, Lyonnet, Pauline, Krug, Rémi, Salomon, Jean-Philippe, Annereau, Alexandre, Benmerah, Marion, Delous, Luis, Briseño-Roa, Sophie, Saunier

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 119(18)

Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available. The m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ced2553a94a29b1c195825aaa0a29310
https://pubmed.ncbi.nlm.nih.gov/35482924

Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies

Autor: Hugo Garcia, Alice Serafin, Flora Silbermann, Esther Poree, Clémentine Mahaut, Amandine Viau, Katy Billot, Éléonore Birgy, Meriem Garfa-Traore, Stéphanie Roy, Salomé Cecarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot-Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean-Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier

SummaryNephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1220b1f23a9be5c30f8c38126be9b93f
https://doi.org/10.1101/2022.01.21.477191

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Autor: Colin G. Miles, Heather J. Cordell, Simon A. Ramsbottom, Meral Gunay-Aygun, Shirlee Shril, Elisa Molinari, John A. Sayer, Helena L. Spiewak, Laura A. Devlin, Peter E. Thelwall, Sophie Saunier, Flora Silbermann, Friedhelm Hildebrandt, Katrina M Wood, Gavin J. Clowry

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (2), pp.1113-1118. ⟨10.1073/pnas.1912602117⟩

Significance Our current understanding of genetic disease is often inadequate, largely due to genetic background effects that modify disease presentation. This is particularly challenging for rare diseases that lack sufficient numbers of patients for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3167e5c19dd935c90aa0521c2420b4
https://hal.science/hal-03932210

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Autor: André Paget, Philippe Nicoud, Charline Henry, Emilie Filhol, Sabine Leh, Fan Yang, Flora Silbermann, Jan Halbritter, Alexandre Benmerah, Arthur Gutter, Friedhelm Hildebrandt, Per M. Knappskog, Anne E.C. Mellgren, Heon Yung Gee, Richard Sandford, Cecilie Bredrup, Dominique Joly, Pauline Krug, Helge Boman, Sophie Saunier, Christine Bole-Feysot, Nurcan Cengiz, Heidi Haugland, Maxence S. Macia, Marion Delous, Damien Brackmann, Nayir Ahmet, Eyvind Rødahl, Andreas W. Sailer, Edward J. Oakeley, Bolan Linghu, Daniela A. Braun, Stefan Johansson, Albane A. Bizet, Patrick Nitschke, Pierre Saint Mézard

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩

International audience; Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279cce514d4b45826aaf1f82c19587ea
https://europepmc.org/articles/PMC5802996/

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Autor: Olivier Niel, Suonavy Khung-Savatovsky, Tania Attié-Bitach, Sabine Sigaudy, Emilie Filhol, Sophie Saunier, Yline Capri, Corinne Antignac, Sophie Collardeau-Frachon, Gweltas Odye, Mohamad Zaidan, Marion Delous, Sophie Thomas, Corinne Lebreton, Isabelle Rouvet, Valentina Grampa, Flora Silbermann, Rémi Salomon, Nadia Elkhartoufi, Alexandre Benmerah, Jean-Luc Alessandri, Marie-Pierre Cordier, Marie-Claire Gubler, Fabiola Terzi, Louise Devisme, Anne Dieux-Coeslier, Cécile Jeanpierre

Publikováno v: PLoS Genetics, Vol 12, Iss 3, p e1005894 (2016)
PLoS Genetics
PLoS Genetics, 2016, 12 (3), pp.e1005894. ⟨10.1371/journal.pgen.1005894⟩

Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8f897b2f8a3956a98c7056a85084e7
http://europepmc.org/articles/PMC4788435?pdf=render