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Isabelle Brun Heath
Isabelle Brun Heath
Verified email at irbbarcelona.org
Title
Cited by
Cited by
Year
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia
M Kulis, S Heath, M Bibikova, AC Queirós, A Navarro, G Clot, ...
Nature genetics 44 (11), 1236-1242, 2012
7382012
Whole-genome bisulfite sequencing of two distinct interconvertible DNA methylomes of mouse embryonic stem cells
E Habibi, AB Brinkman, J Arand, LI Kroeze, HHD Kerstens, F Matarese, ...
Cell stem cell 13 (3), 360-369, 2013
5392013
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
D Fauvert, I Brun-Heath, AS Lia-Baldini, L Bellazi, A Taillandier, JL Serre, ...
BMC medical genetics 10 (1), 51, 2009
1692009
Impact of DNA methylation on 3D genome structure
D Buitrago, M Labrador, JP Arcon, R Lema, O Flores, A Esteve-Codina, ...
Nature Communications 12 (1), 3243, 2021
1572021
Dual role of the C34 subunit of RNA polymerase III in transcription initiation
WM Brun I, Sentenac A
EMBO J 16 (18), 5730-5741, 1997
1321997
Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor
B Eftekharzadeh, VC Banduseela, G Chiesa, P Martínez-Cristóbal, ...
Nature communications 10 (1), 3562, 2019
832019
Bioactivity descriptors for uncharacterized chemical compounds
M Bertoni, M Duran-Frigola, P Badia-i-Mompel, E Pauls, M Orozco-Ruiz, ...
Nature Communications 12 (1), 3932, 2021
802021
Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues
I Brun-Heath, M Ermonval, E Chabrol, J Xiao, M Palkovits, R Lyck, F Miller, ...
Cell and tissue research 343 (3), 521-536, 2011
742011
Regulation of androgen receptor activity by transient interactions of its transactivation domain with general transcription regulators
E De Mol, E Szulc, C Di Sanza, P Martínez-Cristóbal, CW Bertoncini, ...
Structure 26 (1), 145-152. e3, 2018
632018
Rational optimization of a transcription factor activation domain inhibitor
S Basu, P Martínez-Cristóbal, M Frigolé-Vivas, M Pesarrodona, M Lewis, ...
Nature structural & molecular biology 30 (12), 1958-1969, 2023
622023
Oncogenic mutations at the EGFR ectodomain structurally converge to remove a steric hindrance on a kinase-coupled cryptic epitope
L Orellana, AH Thorne, R Lema, J Gustavsson, AD Parisian, A Hospital, ...
Proceedings of the National Academy of Sciences 116 (20), 10009-10018, 2019
602019
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome
MD Thompson, MM Nezarati, G Gillessen‐Kaesbach, P Meinecke, ...
American journal of medical genetics Part A 152 (7), 1661-1669, 2010
592010
Mutations in the alpha-amanitin conserved domain of the largest subunit of yeast RNA polymerase III affect pausing, RNA cleavage and transcriptional transitions.
WM Thuillier V, Brun I, Sentenac A
EMBO J 15 (3), 618-629, 1996
531996
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
AS Lia-Baldini, I Brun-Heath, C Carrion, B Simon-Bouy, JL Serre, ...
Human genetics 123 (4), 429-432, 2008
492008
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations
I Brun-Heath, A Taillandier, JL Serre, E Mornet
Molecular genetics and metabolism 84 (3), 273-277, 2005
442005
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia
I Brun-Heath, AS Lia-Baldini, S Maillard, A Taillandier, B Utsch, ME Nunes, ...
European journal of medical genetics 50 (5), 367-378, 2007
412007
Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene
A Taillandier, SL Sallinen, I Brun-Heath, P De Mazancourt, JL Serre, ...
The Journal of Clinical Endocrinology & Metabolism 90 (4), 2436-2439, 2005
362005
Mechanism of reaction of RNA-dependent RNA polymerase from SARS-CoV-2
J Aranda, M Wieczór, M Terrazas, I Brun-Heath, M Orozco
Chem catalysis 2 (5), 1084-1099, 2022
352022
Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments
M Spentchian, I Brun-Heath, A Taillandier, D Fauvert, JL Serre, ...
Genetic Testing 10 (4), 252-257, 2006
342006
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
I Keraite, P Becker, D Canevazzi, C Frias-López, M Dabad, ...
Nature Communications 13 (1), 5902, 2022
292022
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