List of works - Isabelle Brun-Heath

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

scientific article published on 07 October 2007

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

scientific article published on 14 March 2008

A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta

scientific article published on 21 July 2010

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations

scientific article published on 19 December 2004

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

scientific article published in January 2006

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene

scientific article published on 25 January 2005

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

scientific article published on 21 July 2007

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

scientific article published on 31 December 2010

Efficient siRNA-peptide conjugation for specific targeted delivery into tumor cells

scientific article published on 20 February 2017

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia.

scientific article published on 14 October 2012

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

scientific article published in July 2010

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

scientific article

Impact of DNA methylation on 3D genome structure

scientific article published on 28 May 2021

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

scientific article published on 03 June 2008

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

scientific article

Molecular basis of Arginine and Lysine DNA sequence-dependent thermo-stability modulation

scientific article published on 10 January 2022

Rational design of novel N-alkyl-N capped biostable RNA nanostructures for efficient long-term inhibition of gene expression

scientific article published on 14 March 2016

The Impact of the HydroxyMethylCytosine epigenetic signature on DNA structure and function

scientific article published on 08 November 2021

Whole-genome bisulfite sequencing of two distinct interconvertible DNA methylomes of mouse embryonic stem cells

scientific article published on 11 July 2013

List of works by Isabelle Brun-Heath