Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

Autor: Alain Sarasin, Alexey Epanchintsev, Cathy Obringer, Nadège Calmels, Frédéric Coin, Vincent Laugel, Federico Costanzo, Marc-Alexander Rauschendorf, Jean-Marc Egly

Publikováno v: Scientific Reports
Scientific Reports, 2020, 10 (1), pp.1105. ⟨10.1038/s41598-020-57999-4⟩
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.1105. ⟨10.1038/s41598-020-57999-4⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)

Cockayne syndrome (CS) is a rare genetic disorder caused by mutations (dysfunction) in CSA and CSB. CS patients exhibit mild photosensitivity and severe neurological problems. Currently, CS diagnosis is based on the inefficiency of CS cells to recove

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6413d48a2c6f5441789237053385ad45
https://doi.org/10.1038/s41598-020-57999-4

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Autor: Ingrid Hausser, Vibeke Vestergaard, Judith Fischer, Hans Törmä, Alrun Hotz, Andreas Zimmer, Emmanuelle Bourrat, Lisa Heinz, Anca Dragomir, Marc-Alexander Rauschendorf, Anette Bygum, Christina Fagerberg, Hanqian Zhang, Anders Vahlquist

Publikováno v: Hotz, A, Fagerberg, C, Vahlquist, A, Bygum, A, Törmä, H, Rauschendorf, M-A, Zhang, H, Heinz, L, Bourrat, E, Hausser, I, Vestergaard, V, Dragomir, A, Zimmer, A D & Fischer, J 2018, ' Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis ', British Journal of Dermatology, vol. 178, no. 3, pp. e207-e209 . https://doi.org/10.1111/bjd.15994

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca0215e5585d646236a5e6bf4a5e51f
https://findresearcher.sdu.dk:8443/ws/files/128559145/Identification_of_Mutations_in_SDR9C7_in_6_Families_with_Autosomal_Recessive_Congenital_Ichthyosis.pdf

DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex pattern of transcript variants only in the male germ line

Autor: Marc-Alexander Rauschendorf, Peter H. Vogt, Caroline Ohnmacht, J. Zimmer

Publikováno v: MHR: Basic science of reproductive medicine. 20:1208-1222

DDX3X, the functional X homologue of the major AZFa gene, DDX3Y, belongs to the highly conserved PL10-subfamily of DEAD-box RNA helicase genes which are functionally conserved from yeast to man. They are mainly involved in cell cycle control and tran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdfb32f56271b7ccb009a0beccbd8c13
https://doi.org/10.1093/molehr/gau081

A familial Case of Dopamine-responsive Dystonia with a complicated Phenotype

Autor: Stock, Friedrich, Marc-Alexander Rauschendorf, Jost, Meike, Zimmer, Andreas D, Rösler, Bernd, Klebe, Stephan, Fischer, Judith

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9303ac68a111f1ff2ab56c7b64b83cb4

Regulatory interplay of Cockayne Syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

Autor: Vincent Laugel, Frédéric Coin, Alexey Epanchintsev, Marc-Alexander Rauschendorf, Jean-Marc Egly, Tinna Stevnsner, Vilhelm A. Bohr, Ulrik Kristensen

Publikováno v: Proceedings of the National Academy of Sciences
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, 2013, 110 (25), pp.E2261-E2270. ⟨10.1073/pnas.1220071110⟩
Kristensen, H-U S, Epanchintsev, A, Rauschendorf, M-A, Laugel, V, Stevnsner, T, Bohr, V A, Coin, F & Egly, J-M 2013, ' Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress ', Proceedings of the National Academy of Sciences of the United States of America, vol. 110, no. 25, pp. 2261-2270 . https://doi.org/10.1073/pnas.1220071110

International audience; Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family. Its mutations are linked to Cockayne syndrome phenotypes and classically are thought to be caused by defects in transcription-coupled r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d9f7970cdfa8e93b0045136d28b114