TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Autor: Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

Publikováno v: JCI Insight, Vol 8, Iss 21 (2023)

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w

Externí odkaz: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

An atlas of Wnt activity during embryogenesis in Xenopus tropicalis.

Autor: Caroline Borday, Karine Parain, Hong Thi Tran, Kris Vleminckx, Muriel Perron, Anne H Monsoro-Burq

Publikováno v: PLoS ONE, Vol 13, Iss 4, p e0193606 (2018)

Wnt proteins form a family of highly conserved secreted molecules that are critical mediators of cell-cell signaling during embryogenesis. Partial data on Wnt activity in different tissues and at different stages have been reported in frog embryos. O

Externí odkaz: https://doaj.org/article/0bdf522920914900a251b4ac1a00b8b9

YAP controls retinal stem cell DNA replication timing and genomic stability

Autor: Pauline Cabochette, Guillermo Vega-Lopez, Juliette Bitard, Karine Parain, Romain Chemouny, Christel Masson, Caroline Borday, Marie Hedderich, Kristine A Henningfeld, Morgane Locker, Odile Bronchain, Muriel Perron

Publikováno v: eLife, Vol 4 (2015)

The adult frog retina retains a reservoir of active neural stem cells that contribute to continuous eye growth throughout life. We found that Yap, a downstream effector of the Hippo pathway, is specifically expressed in these stem cells. Yap knock-do

Externí odkaz: https://doaj.org/article/d8299e71dae248db9470842400591f76

CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between

Autor: Karine, Parain, Sophie, Lourdel, Alicia, Donval, Albert, Chesneau, Caroline, Borday, Odile, Bronchain, Morgane, Locker, Muriel, Perron

Publikováno v: Cells. 11(5)

Retinitis pigmentosa is an inherited retinal dystrophy that ultimately leads to blindness due to the progressive degeneration of rod photoreceptors and the subsequent non-cell autonomous death of cones.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4de39b9e9dcf9c7f6ae9e1b68b95c884
https://pubmed.ncbi.nlm.nih.gov/35269429

A molecular atlas of the developing ectoderm defines neural, neural crest, placode, and nonneural progenitor identity in vertebrates

Autor: Richard M. Harland, Anne H. Monsoro-Burq, Elsa Bernard, Sofia Medina-Ruiz, Caroline Borday, Jean-Philippe Vert, Michael B. Eisen, J.-L. Plouhinec

Publikováno v: PLoS Biology
PLoS Biology, Public Library of Science, 2017, 15 (10), ⟨10.1371/journal.pbio.2004045⟩
PLoS biology, vol 15, iss 10
PLoS Biology, Vol 15, Iss 10, p e2004045 (2017)

During vertebrate neurulation, the embryonic ectoderm is patterned into lineage progenitors for neural plate, neural crest, placodes and epidermis. Here, we use Xenopus laevis embryos to analyze the spatial and temporal transcriptome of distinct ecto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c29c8498f3ed3f9e48c63abcf2ec5de
https://hal.archives-ouvertes.fr/hal-01679042