A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.

Autor: Carole Charlier, Jorgen Steen Agerholm, Wouter Coppieters, Peter Karlskov-Mortensen, Wanbo Li, Gerben de Jong, Corinne Fasquelle, Latifa Karim, Susanna Cirera, Nadine Cambisano, Naima Ahariz, Erik Mullaart, Michel Georges, Merete Fredholm

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e43085 (2012)

Fertility is one of the most important traits in dairy cattle, and has been steadily declining over the last decades. We herein use state-of-the-art genomic tools, including high-throughput SNP genotyping and next-generation sequencing, to identify a

Externí odkaz: https://doaj.org/article/c64c3bd6d1804284a415f000b3be486e

Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness

Autor: Derk-Jan Dijk, Peter M. Visscher, Daphne Chylinski, Gilles Vandewalle, Christina Schmidt, Grégory Hammad, Enda M. Byrne, Ekaterina Koshmanova, Christian Degueldre, Vincenzo Muto, Maxime Van Egroo, Mathieu Jaspar, Christophe Phillips, Pouya Ghaemmaghami, Wouter Coppieters, Michel Georges, André Luxen, Christian Berthomier, Fabienne Collette, Charlotte Mouraux, Christelle Meyer, Simon Archer, Naima Ahariz, Mahmoud Elansary, Pierre Maquet, Loic Yengo, Marie Brandewinder, Eric Salmon

Publikováno v: Sleep. 44(1)

Study Objectives Sleep disturbances and genetic variants have been identified as risk factors for Alzheimer’s disease (AD). Our goal was to assess whether genome-wide polygenic risk scores (PRS) for AD associate with sleep phenotypes in young adult

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d2b2543ebb3bb7baf7b36e53b65451
https://pubmed.ncbi.nlm.nih.gov/33982744

A stop-gain in thelaminin, alpha 3gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle

Autor: Nico Tamma, Naima Ahariz, Wouter Coppieters, Wanbo Li, Michel Georges, Calixte Bayrou, Chad Harland, Arnaud Sartelet, Carole Charlier, Latifa Karim

Publikováno v: Animal Genetics. 46:566-570

Four newborn purebred Belgian Blue calves presenting a severe form of epidermolysis bullosa were recently referred to our heredo-surveillance platform. SNP array genotyping followed by autozygosity mapping located the causative gene in a 8.3-Mb inter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5455bc542b52f1ad0b558e56dec23e38
https://doi.org/10.1111/age.12342

A missense mutation accelerating the gating of the lysosomal Cl−/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

Autor: Arnaud Sartelet, Tobias Stauber, Wouter Coppieters, Carmen F. Ludwig, Corinne Fasquelle, Tom Druet, Zhiyan Zhang, Naima Ahariz, Nadine Cambisano, Thomas J. Jentsch, Carole Charlier

Publikováno v: Disease Models & Mechanisms
Disease models & mechanisms, 7: 119-128
Disease Models & Mechanisms, Vol 7, Iss 1, Pp 119-128 (2014)

Chloride/proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dd039e16b1c0eee78ab21372d08e1dd6
http://europepmc.org/articles/PMC3882054

A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina

Autor: Jørgen S. Agerholm, Michel Georges, Corinne Fasquelle, Latifa Karim, Nadine Cambisano, Gerben de Jong, Naima Ahariz, Peter Karlskov-Mortensen, Erik Mullaart, Susanna Cirera, Wouter Coppieters, Merete Fredholm, Carole Charlier, Wanbo Li

Publikováno v: Charlier, C, Agerholm, J S, Coppieters, W, Karlskov-Mortensen, P, Li, W, Jong, G D, Fasquelle, C, Karim, L, Cirera Salicio, S, Gambisano, N, Ahariz, N, Mullaart, E, Georges, M & Fredholm, M 2012, ' A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina ', PLoS ONE, vol. 7, no. 8, e43085 . https://doi.org/10.1371/journal.pone.0043085
PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e43085 (2012)

Fertility is one of the most important traits in dairy cattle, and has been steadily declining over the last decades. We herein use state-of-the-art genomic tools, including high-throughput SNP genotyping and next-generation sequencing, to identify a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e3049dbe82ddbc9721294cf7cfaaea
https://curis.ku.dk/ws/files/40479770/Brachyspina_genotyping.pdf