Search Results - "Gagnon, Edith"
-
1
Molecular effect of an OPTN common variant associated to Paget's disease of bone
Published in PloS one (21-05-2018)“…Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing…”
Get full text
Journal Article -
2
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone
Published in Biochimica et biophysica acta. Molecular basis of disease (01-01-2018)“…Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date…”
Get full text
Journal Article -
3
Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene
Published in BMC medical genomics (03-03-2022)“…We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This…”
Get full text
Journal Article -
4
Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone
Published in BMC medical genetics (16-11-2017)“…Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in…”
Get full text
Journal Article -
5
Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations
Published in Bone Reports (01-06-2023)“…Paget's disease of bone (PDB) is a focal metabolic bone disorder characterized by an increased bone remodeling. Fifteen to 40 % of PDB patients have a familial…”
Get full text
Journal Article -
6
Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population
Published in Bone (New York, N.Y.) (01-03-2011)“…Abstract More than 20 mutations of the Sequestosome 1 ( SQSTM1 ) gene have been reported in patients of European descent affected by Paget's disease of bone…”
Get full text
Journal Article -
7
Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone
Published in Bone Reports (01-12-2020)“…Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved…”
Get full text
Journal Article -
8
Identification of Key Functional Domains in the C Terminus of the K+-Cl– Cotransporters
Published in The Journal of biological chemistry (09-06-2006)“…The K+-Cl– cotransporter (KCC) isoforms constitute a functionally heterogeneous group of ion carriers. Emerging evidence suggests that the C terminus (Ct) of…”
Get full text
Journal Article -
9
Functional comparison of renal Na-K-Cl cotransporters between distant species
Published in American Journal of Physiology: Cell Physiology (01-02-2003)“…In the shark (sa), two variants of the renal Na-K-Cl cotransporter (saNKCC2A and saNKCC2F) are produced by alternative splicing of the second transmembrane…”
Get more information
Journal Article -
10
Three-dimensional Culture System as a Model for Studying Cancer Cell Invasion Capacity and Anticancer Drug Sensitivity
Published in Anticancer research (01-07-2004)“…Background: Three-dimensional (3-D) culture systems that simulate the tumor extracellular microenvironment may be appropriate to test cancer cell potential for…”
Get full text
Journal Article -
11
Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters
Published in American journal of physiology. Renal physiology (01-07-2003)“…The Na(+)-K(+)-Cl(-) cotransporters (NKCCs), which belong to the cation-Cl(-) cotransporter (CCC) family, are able to translocate NH4(+) across cell membranes…”
Get more information
Journal Article -
12
Molecular mechanisms of cation transport by the renal Na+-K+-Cl- cotransporter: structural insight into the operating characteristics of the ion transport sites
Published in The Journal of biological chemistry (16-09-2005)“…Two variants of the renal Na(+)-K(+)-Cl(-) cotransporter (NKCC2), called NKCC2A and NKCC2F, display marked differences in Na(+), Rb(+), and Cl(-) affinities,…”
Get full text
Journal Article -
13
Protection from Group B Streptococcal Infection in Neonatal Mice by Maternal Immunization with Recombinant Sip Protein
Published in Infection and Immunity (01-09-2002)“…Classifications Services IAI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
Get full text
Journal Article -
14
Functional and molecular characterization of the shark renal Na-K-Cl cotransporter: novel aspects
Published in American journal of physiology. Renal physiology (01-11-2002)“…The Na-K-Cl cotransporter isoform 1 (NKCC1) has been isolated from several species, including Squalus acanthias. A second kidney-specific isoform (NKCC2) has…”
Get more information
Journal Article -
15
Molecular mechanisms of Cl- transport by the renal Na(+)-K(+)-Cl- cotransporter. Identification of an intracellular locus that may form part of a high affinity Cl(-)-binding site
Published in The Journal of biological chemistry (13-02-2004)“…The 2nd transmembrane domain (tm) of the secretory Na(+)-K(+)-Cl(-) cotransporter (NKCC1) and of the kidney-specific isoform (NKCC2) has been shown to play an…”
Get full text
Journal Article -
16
Gene-environment interactions in Paget's disease of bone
Published in Joint, bone, spine : revue du rhumatisme (01-05-2019)“…This study explored the role of outdoor and indoor air pollutants in Paget's disease of bone (PDB). We performed a survey in 140 French-Canadian patients with…”
Get full text
Journal Article -
17
Cloning and Functional Characterization of a Cation-Cl− Cotransporter-interacting Protein
Published in The Journal of biological chemistry (13-10-2000)“…To date, the cation-Cl−cotransporter (CCC) family comprises two branches of homologous membrane proteins. One branch includes the Na+-K+-Cl− cotransporters…”
Get full text
Journal Article -
18
Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
Published in Human genetics (01-06-2014)“…In genome-wide association studies, single nucleotide polymorphisms located in five novel loci were associated with PDB. We aimed at identifying rare genetic…”
Get full text
Journal Article -
19
Development of a molecular test of Paget's disease of bone
Published in Bone (New York, N.Y.) (01-03-2016)“…Abstract Depending on populations, 15 to 40% of patients have a familial form of Paget's disease of bone (PDB), which is transmitted in an autosomal-dominant…”
Get full text
Journal Article -
20
Human angiomotin-like 1 associates with an angiomotin protein complex through its coiled-coil domain and induces the remodeling of the actin cytoskeleton
Published in Cell motility and the cytoskeleton (01-09-2009)“…Angiostatin is a potent inhibitor of angiogenesis. One mechanism through which angiostatin inhibits angiogenesis is by binding to the cell surface protein…”
Get full text
Journal Article