Corinne Collet
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View article: Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis Open
View article: Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis
Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis Open
Background: Some pathogenic variants in Smad6 are implicated in midline craniosynostosis, particularly in metopic synostosis. These variants increase the risk of both nonsyndromic and syndromic presentations. Craniosynostosis, whether trea…
View article: A Case of Skin Lesion in a Child and Radiological Lesions in His Father
A Case of Skin Lesion in a Child and Radiological Lesions in His Father Open
View article: Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study
Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study Open
Context Osteogenesis imperfecta (OI) is a rare genetic bone disorder characterized by recurrent fractures. In adults, the value of bone mineral density (BMD) in fracture risk is unknown. Objective We prospectively investigated changes in B…
View article: Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study
Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study Open
View article: Novel variant in <i>LRP6</i> associated with unusual and severe clinical presentation: Case report
Novel variant in <i>LRP6</i> associated with unusual and severe clinical presentation: Case report Open
Low‐density lipoprotein receptor‐related protein 6 ( LRP6 ) is a co‐receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally ass…
View article: The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis
The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis Open
Zebrafish are now widely used to study skeletal development and bone-related diseases. To that end, understanding osteoblast differentiation and function, the expression of essential transcription factors, signaling molecules, and extracel…
View article: A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis
A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis Open
Osteoarthritis is a degenerative articular disease affecting mainly aging animals and people. The extracellular matrix protein Efemp1 was previously shown to have higher turn-over and increased secretion in the blood serum, urine, and subc…
View article: Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study
Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study Open
As epigenetic regulators of gene expression, circulating micro-RiboNucleic Acids (miRNAs) have been described in several bone diseases as potential prognostic markers. The aim of our study was to identify circulating miRNAs potentially ass…
View article: Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance Open
View article: Caractérisation du rôle des prokinéticines dans le carcinome ovarien séreux de haut grade
Caractérisation du rôle des prokinéticines dans le carcinome ovarien séreux de haut grade Open
High-grade serous ovarian carcinoma (HGSOC) represents the leading cause of death from gynecologic cancer and is the fifth most deadly cancer in women. Resistance to conventional therapies and diversity of the tumor microenvironment (TME) …
View article: <scp> <i>Lrp5</i> </scp> p. <scp>Val667Met</scp> Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis
<span> <i>Lrp5</i> </span> p. <span>Val667Met</span> Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis Open
Early‐onset osteoporosis (EOOP) has been associated with several genes, including LRP5 , coding for a coreceptor in the Wnt pathway. Variants in LRP5 were also described in osteoporosis pseudoglioma syndrome, combining severe osteoporosis …
View article: Clinical interest of molecular study in cases of isolated midline craniosynostosis
Clinical interest of molecular study in cases of isolated midline craniosynostosis Open
View article: <i>wnt11f2</i> Zebrafish, an Animal Model for Development and New Insights in Bone Formation
<i>wnt11f2</i> Zebrafish, an Animal Model for Development and New Insights in Bone Formation Open
Wnt signaling is a key regulator of osteoblast differentiation and mineralization in humans and animals, mediated by the canonical Wnt/β-catenin and noncanonical signaling pathways. Both pathways are crucial in regulating osteoblastogenesi…
View article: Diagnosis and Outcomes of Late‐Onset Wilson's Disease: A National Registry‐Based Study
Diagnosis and Outcomes of Late‐Onset Wilson's Disease: A National Registry‐Based Study Open
Background Wilson's disease (WD) is usually diagnosed in children and young adults; limited data exist on late‐onset forms. Objective The aim was to characterize the clinical and paraclinical presentations, therapeutic management, and outc…
View article: Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i> Open
We describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging ge…
View article: POS1165 ASSOCIATION OF LDHD RARE VARIANTS WITH EARLY-ONSET GOUT IN TWO FAMILIES WITH AN ADDITIONAL ASSOCIATION OF RHBG VARIANT IN ONE.
POS1165 ASSOCIATION OF LDHD RARE VARIANTS WITH EARLY-ONSET GOUT IN TWO FAMILIES WITH AN ADDITIONAL ASSOCIATION OF RHBG VARIANT IN ONE. Open
View article: The rare p.Val667Met (V667M) variant of LRP5 is responsible for bone fragility through alteration of the bone matrix quality in mice
The rare p.Val667Met (V667M) variant of LRP5 is responsible for bone fragility through alteration of the bone matrix quality in mice Open
View article: Wnt11f2 mutation in zebrafish leads to high bone mass and craniofacial dysmorphia in, respectively heterozygous and homozygous mutants
Wnt11f2 mutation in zebrafish leads to high bone mass and craniofacial dysmorphia in, respectively heterozygous and homozygous mutants Open
View article: Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy Open
Objective KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. Methods We screened 893 individuals with develop…
View article: FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model. Open
Crouzon syndrome with acanthosis nigricans (CAN, a rare type of craniosynostosis characterized by premature suture fusion and neurological impairments) has been linked to a gain-of-function mutation (p.Ala391Glu) in fibroblast growth facto…
View article: Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses Open
View article: Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre Open
View article: Novel Pathogenic Variants in SLCO2A1 Causing Autosomal Dominant Primary Hypertrophic Osteoarthropathy
Novel Pathogenic Variants in SLCO2A1 Causing Autosomal Dominant Primary Hypertrophic Osteoarthropathy Open
View article: <i>WNT11,</i> a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
<i>WNT11,</i> a new gene associated with early onset osteoporosis, is required for osteoblastogenesis Open
Monogenic early onset osteoporosis (EOOP) is a rare disease defined by low bone mineral density (BMD) that results in increased risk of fracture in children and young adults. Although several causative genes have been identified, some of t…
View article: More severe phenotype of early‐onset osteoporosis associated with recessive form of<i>LRP5</i>and combination with<i>DKK1</i>or<i>WNT3A</i>
More severe phenotype of early‐onset osteoporosis associated with recessive form of<i>LRP5</i>and combination with<i>DKK1</i>or<i>WNT3A</i> Open
Background Early‐onset osteoporosis (EOOP) is defined by low bone mineral density (BMD), which increases the risk of fracture. Although the prevalence of osteoporosis at a young age is unknown, low BMD is highly linked to genetic backgroun…
View article: Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis
Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis Open
View article: Bone analysis revealed high bone resorption in idiopathic osteoporosis in young adults
Bone analysis revealed high bone resorption in idiopathic osteoporosis in young adults Open
View article: Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism
Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism Open
Context Men with congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown. Objective To characterize bone geom…
View article: Early onset idiopathic osteoporosis: digenism of wnt signaling pathway
Early onset idiopathic osteoporosis: digenism of wnt signaling pathway Open