Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Arnaud Boulling"'
Autor:
Florian Besnard, Ana Guintard, Cécile Grohs, Laurence Guzylack-Piriou, Margarita Cano, Clémentine Escouflaire, Chris Hozé, Hélène Leclerc, Thierry Buronfosse, Lucie Dutheil, Jeanlin Jourdain, Anne Barbat, Sébastien Fritz, Marie-Christine Deloche, Aude Remot, Blandine Gaussères, Adèle Clément, Marion Bouchier, Elise Contat, Anne Relun, Vincent Plassard, Julie Rivière, Christine Péchoux, Marthe Vilotte, Camille Eche, Claire Kuchly, Mathieu Charles, Arnaud Boulling, Guillaume Viard, Stéphanie Minéry, Sarah Barbey, Clément Birbes, Coralie Danchin-Burge, Frédéric Launay, Sophie Mattalia, Aurélie Allais-Bonnet, Bérangère Ravary, Yves Millemann, Raphaël Guatteo, Christophe Klopp, Christine Gaspin, Carole Iampietro, Cécile Donnadieu, Denis Milan, Marie-Anne Arcangioli, Mekki Boussaha, Gilles Foucras, Didier Boichard, Aurélien Capitan
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-30 (2024)
Abstract Background Dairy cattle breeds are populations of limited effective size, subject to recurrent outbreaks of recessive defects that are commonly studied using positional cloning. However, this strategy, based on the observation of animals wit
Externí odkaz:
https://doaj.org/article/c9ab6389eccd4e278eb6ccb394cbc8f9
Autor:
Mélissa Poncet, Maureen Féménia, Clémence Pierre, Mathieu Charles, Aurélien Capitan, Arnaud Boulling, Dominique Rocha
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-6 (2024)
Abstract Mitochondrial DNA sequences are frequently transferred into the nuclear genome, generating nuclear mitochondrial DNA sequences (NUMTs). Here, we analysed, for the first time, NUMTs in the domestic yak genome. We obtained 499 alignment matche
Externí odkaz:
https://doaj.org/article/fbe5782f307b4b348078e314708ebd7b
Autor:
Mekki Boussaha, Arnaud Boulling, Valérie Wolgust, Lorraine Bourgeois-Brunel, Pauline Michot, Cécile Grohs, Nicolas Gaiani, Pierre-Yves Grivaud, Hélène Leclerc, Coralie Danchin-Burge, Marthe Vilotte, Julie Rivière, Didier Boichard, Jean-Marie Gourreau, Aurélien Capitan
Publikováno v:
Genetics Selection Evolution, Vol 55, Iss 1, Pp 1-8 (2023)
Abstract Background Inherited epidermolysis bullosa (EB) is a group of painful and life-threatening genetic disorders that are characterized by mechanically induced blistering of the skin and mucous membranes. Congenital skin fragility resembling EB
Externí odkaz:
https://doaj.org/article/e2facc03aef7434ca4a72bb822a69540
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract DGAT1 is playing a major role in fat metabolism and triacylglyceride synthesis. Only two DGAT1 loss-of-function variants altering milk production traits in cattle have been reported to date, namely p.M435L and p.K232A. The p.M435L variant is
Externí odkaz:
https://doaj.org/article/d3e075f560084b3db8a706f1a3f261e2
Autor:
Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen
Publikováno v:
Human Genomics, Vol 13, Iss 1, Pp 1-11 (2019)
Abstract Background The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of thi
Externí odkaz:
https://doaj.org/article/d2097150466a4c6ebdcaafd6c1eac56c
Autor:
Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
Publikováno v:
Human Genomics, Vol 11, Iss 1, Pp 1-7 (2017)
Abstract Background SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitativ
Externí odkaz:
https://doaj.org/article/6d6d431cedb1429eb7ebabe149eacc44
Autor:
Zhuan Liao, Claude Férec, Arnaud Boulling, Matthew J. Hayden, Jin-Huan Lin, Emmanuelle Masson, David N. Cooper, Jian-Min Chen
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (8), pp.1358-1364. ⟨10.1002/humu.24029⟩
Human Mutation, Wiley, 2020, 41 (8), pp.1358-1364. ⟨10.1002/humu.24029⟩
International audience; In the human genome, most 5 ' splice sites (similar to 99%) employ the canonical GT dinucleotide whereas a small minority (similar to 1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5 ' splice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce40e208835ed127d15e2ce3d7a36a5
https://hal.inrae.fr/hal-02947032
https://hal.inrae.fr/hal-02947032
Autor:
Emmanuelle Masson, Arnaud Boulling, Zhuan Liao, Jian-Min Chen, David Neil Cooper, Zhao-Shen Li, Jin-Huan Lin, Claude Férec
Publikováno v:
Gut
Gut, BMJ Publishing Group, 2020, 69 (4), pp.785-786. ⟨10.1136/gutjnl-2019-318564⟩
Gut, BMJ Publishing Group, 2020, 69 (4), pp.785-786. ⟨10.1136/gutjnl-2019-318564⟩
We have read with interest the recent publication of Hegyi and Sahin-Toth1 reporting that chronic pancreatitis (CP)-predisposing CPA1 mutations function through the misfolding pathway rather than through loss of CPA1 protein/activity. Herein, we expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b21838a4f5a9474241d02a3681ff40f
https://orca.cardiff.ac.uk/id/eprint/123000/3/COOPER,+David+-+CPA1+text-R1.pdf
https://orca.cardiff.ac.uk/id/eprint/123000/3/COOPER,+David+-+CPA1+text-R1.pdf
Autor:
Zhuan Liao, Matthew J. Hayden, Jian-Min Chen, Jin-Huan Lin, Claude Férec, David N. Cooper, Arnaud Boulling, Emmanuelle Masson
In the human genome, most 5’ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the non-canonical GC dinucleotide. The functionality and pathogenicity of 5’ splice site GT>GC (i.e., +2T>C) variants have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030a4a305bcfa6af9508b72b9c7a64ad
https://doi.org/10.1101/829010
https://doi.org/10.1101/829010
Autor:
Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
International audience; It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010
https://hal.inrae.fr/hal-02947010