L. Duplomb

发表

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

J. Rivière, J. Thevenon, L. Faivre, 2014, European Journal of Human Genetics.

Mannose 6-Phosphate/Insulin-like Growth Factor II Receptor Mediates Internalization and Degradation of Leukemia Inhibitory Factor but Not Signal Transduction*

B. Hoflack, P. Vusio, L. Duplomb, 1999, The Journal of Biological Chemistry.

Gallium modulates osteoclastic bone resorption in vitro without affecting osteoblasts

J. Bouler, Y. Wittrant, Z. Badran, 2010, British journal of pharmacology.

Periodontal disorders in a cohort of patients with Cohen syndrome.

L. Faivre, L. Laforest, E. Gautier, 2020, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry.

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

S. Picaud, C. Thauvin-Robinet, E. Dubus, 2020, Investigative ophthalmology & visual science.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

E. Solary, A. Hammann, J. Thevenon, 2019, Journal of Molecular Medicine.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular genetics.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

J. Thevenon, L. Faivre, C. Philippe, 2012, Journal of Medical Genetics.

Demonstration of reverse fatty acid transport from rat cardiomyocytes Published, JLR Papers in Press, September 1, 2004. DOI 10.1194/jlr.M400237-JLR200

Byung-Hyun Park, R. Unger, M. Walton, 2004, Journal of Lipid Research.

Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: role in osteoclastogenesis and bone resorption.

M. Padrines, D. Heymann, G. Jego, 2011, European journal of cell biology.

Hyperleptinemia prevents lipotoxic cardiomyopathy in acyl CoA synthase transgenic mice.

J. Richardson, J. Schaffer, Byung-Hyun Park, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Conditioned media from mouse osteosarcoma cells promote MC3T3‐E1 cell proliferation using JAKs and PI3‐K/Akt signal crosstalk

L. Shultz, D. Heymann, K. Mori, 2008, Cancer science.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

The Mannose 6-Phosphate/Insulin-like Growth Factor II Receptor Is a Nanomolar Affinity Receptor for Glycosylated Human Leukemia Inhibitory Factor*

J. Moreau, B. Hoflack, P. Vusio, 1998, The Journal of Biological Chemistry.

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

L. Faivre, C. Thauvin, P. Fauque, 2019, Cellular and Molecular Life Sciences.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

E. Blair, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular genetics.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

S. Vokes, P. Jouk, J. Thevenon, 2014, American journal of medical genetics. Part A.

Interleukin‐34 is expressed by giant cell tumours of bone and plays a key role in RANKL‐induced osteoclastogenesis

D. Heymann, A. Moreau, F. Gouin, 2010, The Journal of pathology.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Oncostatin M regulates the synthesis and turnover of gp130, leukemia inhibitory factor receptor alpha, and oncostatin M receptor beta by distinct mechanisms.

H. Baumann, Y. Wang, F. Blanchard, 2001, The Journal of biological chemistry.

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

C. Garrido, L. Faivre, C. Thauvin-Robinet, 2020, Biochemical and biophysical research communications.

Identification of Agonistic and Antagonistic Antibodies against gp190, the Leukemia Inhibitory Factor Receptor, Reveals Distinct Roles for Its Two Cytokine-binding Domains*

S. Daburon, Patrick Legembre, J. Taupin, 2001, The Journal of Biological Chemistry.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

J. Sahel, C. Creuzot-Garcher, G. Mancini, 2021, Scientific Reports.

IL-33 is expressed in human osteoblasts, but has no direct effect on bone remodeling.

D. Heymann, D. Magne, P. Hardouin, 2011, Cytokine.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Independence of hyperleptinemia-induced fat disappearance from thyroid hormone.

T. Visser, Byung-Hyun Park, R. Unger, 2004, Biochemical and biophysical research communications.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

G. Pazour, J. Rivière, J. Thevenon, 2016, Clinical genetics.

Osteoprotegerin: multiple partners for multiple functions.

M. Heymann, D. Heymann, F. Redini, 2013, Cytokine & growth factor reviews.

Factor VIII-von Willebrand Factor Complex Inhibits Osteoclastogenesis and Controls Cell Survival*

D. Heymann, S. Téletchéa, M. Maillasson, 2009, The Journal of Biological Chemistry.

RANKL, RANK, osteoprotegerin: key partners of osteoimmunology and vascular diseases

D. Heymann, F. Redini, F. Lamoureux, 2007, Cellular and Molecular Life Sciences.

Concise Review: Embryonic Stem Cells: A New Tool to Study Osteoblast and Osteoclast Differentiation

P. Jourdon, D. Heymann, L. Duplomb, 2007, Stem cells.

The dual role of IL-6-type cytokines on bone remodeling and bone tumors.

F. Blanchard, L. Duplomb, M. Baud’huin, 2009, Cytokine & growth factor reviews.

Long term oncostatin M treatment induces an osteocyte-like differentiation on osteosarcoma and calvaria cells.

V. Ferré, D. Heymann, F. Blanchard, 2009, Bone.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

T. Bourgeron, R. Delorme, D. Campion, 2015, European Journal of Human Genetics.

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

T. Spector, D. Balding, G. Bedoya, 2021, Science Advances.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

FR901228, an inhibitor of histone deacetylases, increases the cellular responsiveness to IL-6 type cytokines by enhancing the expression of receptor proteins

H. Baumann, W. Held, B. Asch, 2002, Oncogene.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

E. Solary, R. Loffroy, J. Thevenon, 2017, Human molecular genetics.

Extracellular HSP110 skews macrophage polarization in colorectal cancer

A. Duval, A. Hammann, C. Garrido, 2016, Oncoimmunology.

Dual regulation of SPI1/PU.1 transcription factor by heat shock factor 1 (HSF1) during macrophage differentiation of monocytes

E. Solary, C. Garrido, F. Girodon, 2014, Leukemia.

Hepatic insig-1 or -2 overexpression reduces lipogenesis in obese Zucker diabetic fatty rats and in fasted/refed normal rats.

Jinping Li, R. Unger, May-yun Wang, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3.

D. Heymann, F. Blanchard, V. Trichet, 2008, Endocrinology.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

E. Krüger, S. Auvin, A. Verloes, 2019, Clinical genetics.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Stimulation of Leukemia Inhibitory Factor Receptor Degradation by Extracellular Signal-regulated Kinase*

H. Baumann, F. Blanchard, Yanping Wang, 2000, The Journal of Biological Chemistry.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Oncostatin M Regulates the Synthesis and Turnover of gp130, Leukemia Inhibitory Factor Receptor α, and Oncostatin M Receptor β by Distinct Mechanisms*

H. Baumann, F. Blanchard, Yanping Wang, 2001, The Journal of Biological Chemistry.

Proteoglycans: key partners in bone cell biology

D. Heymann, Dominique Heymann, François Lamoureux, 2007, BioEssays : news and reviews in molecular, cellular and developmental biology.

Key roles of the OPG–RANK–RANKL system in bone oncology

M. Padrines, D. Heymann, Y. Fortun, 2007, Expert review of anticancer therapy.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

Mutations in the Immunoglobulin-like Domain of gp190, the Leukemia Inhibitory Factor (LIF) Receptor, Increase or Decrease Its Affinity for LIF*

Yannick Jacques, Frédéric Blanchard, John K Heath, 2003, The Journal of Biological Chemistry.

Increased expression and activity of 11beta-HSD-1 in diabetic islets and prevention with troglitazone.

Byung-Hyun Park, R. Unger, May-yun Wang, 2004, Biochemical and biophysical research communications.

Soluble mannose 6-phosphate/insulin-like growth factor II (IGF-II) receptor inhibits interleukin-6-type cytokine-dependent proliferation by neutralization of IGF-II.

Yannick Jacques, Benjamin Chaigne-Delalande, Frederic Blanchard, 2003, Endocrinology.

Differentiation of osteoblasts from mouse embryonic stem cells without generation of embryoid body

P. Jourdon, D. Heymann, L. Duplomb, 2007, In Vitro Cellular & Developmental Biology - Animal.

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

B. Yalcin, L. Faivre, C. Thauvin-Robinet, 2023, Neurobiology of Disease.

Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in rankl-induced osteoclastogenesis

D. Heymann, A. Moreau, F. Gouin, 2010 .

D. Heymann, F. Blanchard, V. Trichet, 2008, Endocrinology.