Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase

Autor: Michael Schertzer, Laurent Jullien, André L. Pinto, Rodrigo T. Calado, Patrick Revy, Arturo Londoño-Vallejo

Publikováno v: Cells, Vol 12, Iss 24, p 2798 (2023)

Regulator of TElomere Length Helicase 1 (RTEL1) is a helicase required for telomere maintenance and genome replication and repair. RTEL1 has been previously shown to participate in the nuclear export of small nuclear RNAs. Here we show that RTEL1 def

Externí odkaz: https://doaj.org/article/4dad15806383433abf306aa44ac37893

JOS JULLIEN (1877-1956), un médecin-chercheur ancré en Vivarais

Autor: Laurent, Jullien

Publikováno v: L'Almanach Ardèche & Drôme 2021
L'Almanach Ardèche & Drôme 2021, 2020

International audience; Le docteur Jos Jullien est certainement l’une des figures ardéchoises du XXe siècle les plus emblématiques. Héros de la grande guerre, décoré de la légion d’honneur et de la croix de Guerre, il fut aussi un préhist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c96a969f3b2deccb694b8fbe715e9bdb
https://hal.archives-ouvertes.fr/hal-03230872/document

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

Autor: Patrick Revy, Laurent Jullien, Laetitia Kermasson, Isabelle Callebaut, Arturo Londoño-Vallejo, Caroline Kannengiesser, Thierry Leblanc, Valérie Cormier-Daire, Jean Soulier, Jean-Pierre de Villartay

Publikováno v: Human Mutation. 37:469-472

The DNA helicase RTEL1 participates in telomere maintenance and genome stability. Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson syndrome (HH). Here, we report a HH pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41a288ab34d4b4fef39e4e5a7554151e
https://doi.org/10.1002/humu.22966

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Autor: Laurent Jullien, Patrick Revy, Fabien Touzot, Alain Fischer, Laetitia Kermasson, Arturo Londoño-Vallejo, Isabelle Callebaut, Sinan Sari, Christelle Ménard, Figen Dogu, Vannina Giacobbi-Milet, Aydan Ikinciogullari, Amos Etzioni, Thierry Leblanc, Jean-Pierre de Villartay, Jean Soulier, Caroline Kannengiesser, Despina Moshous

Publikováno v: Blood Advances
Blood Advances, The American Society of Hematology, 2016, 1 (1), pp.36-46. ⟨10.1182/bloodadvances.2016001313⟩
Blood Advances, 2016, 1 (1), pp.36-46. ⟨10.1182/bloodadvances.2016001313⟩

Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d7fb22070de7a1a8204fd82b26a009b
https://hal.archives-ouvertes.fr/hal-02105048

Gain of oncogenic function of p53 mutants regulates E-cadherin expression uncoupled from cell invasion in colon cancer cells

Autor: Laureline Roger, Laurent Jullien, Pierre Roux, Véronique Gire

Publikováno v: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2010, 123 (Pt 8), pp.1295-305. ⟨10.1242/jcs.061002⟩

International audience; Mutations in the p53 tumour suppressor gene are associated clinically with tumour progression and metastasis. Downregulation of the E-cadherin cell-cell adhesion molecule is a key event for epithelial to mesenchymal transition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80825b860995e8f4acbbb4aa4a95f87
https://doi.org/10.1242/jcs.061002