C. Bole-Feysot

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A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.

V. Dötsch, C. Missero, S. Duchatelet, 2020, The Journal of investigative dermatology.

Regulation of proteolysis by cytokines in the human intestinal epithelial cell line HCT-8: role of IFNgamma.

P. Ducrotte, C. Bole-Feysot, J. Leblond, 2006, Biochimie.

Targeting immunoproteasome and glutamine supplementation prevent intestinal hyperpermeability.

P. Ducrotte, C. Bole-Feysot, P. Déchelotte, 2017, Biochimica et biophysica acta. General subjects.

Proteasome inhibitors exacerbate interleukin-8 production induced by protease-activated receptor 2 in intestinal epithelial cells.

P. Ducrotte, C. Bole-Feysot, P. Déchelotte, 2016, Cytokine.

Enteral delivery of proteins stimulates protein synthesis in human duodenal mucosa in the fed state through a mammalian target of rapamycin-independent pathway.

S. Lecleire, C. Bole-Feysot, P. Déchelotte, 2013, The American journal of clinical nutrition.

Methotrexate Modulates Tight Junctions Through NF-&kgr;B, MEK, and JNK Pathways

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2012, Journal of pediatric gastroenterology and nutrition.

Increased Proteasome-Mediated Degradation of Occludin in Irritable Bowel Syndrome

S. Lecleire, P. Ducrotte, M. Antonietti, 2010, The American Journal of Gastroenterology.

Methotrexate induces intestinal mucositis and alters gut protein metabolism independently of reduced food intake.

C. Bole-Feysot, J. Leblond, P. Déchelotte, 2009, American journal of physiology. Endocrinology and metabolism.

Combined enteral infusion of glutamine, carbohydrates, and antioxidants modulates gut protein metabolism in humans.

S. Lecleire, P. Ducrotte, C. Bole-Feysot, 2008, The American journal of clinical nutrition.

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

R. Salomon, C. Antignac, Raphael Kopan, 2012, Developmental cell.

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.

A. Smahi, A. Munnich, N. Boddaert, 2009, American journal of human genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

Ghrelin inhibits autonomic response to gastric distension in rats by acting on vagal pathway

C. Bole-Feysot, M. Meleine, C. Guérin, 2020, Scientific Reports.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

M. Brown, E. Duncan, C. Bole-Feysot, 2016, Journal of Medical Genetics.

An open-access long oligonucleotide microarray resource for analysis of the human and mouse transcriptomes

Tom C. Freeman, Philippe Dessen, Jean-Marie Rouillard, 2006, Nucleic acids research.

Contribution of PKC-dependent and -independent processes in temporal ERK regulation by ET-1, PDGF, and EGF in rat myometrial cells.

C. Bole-Feysot, I. Boulven, P. Robin, 2004, American journal of physiology. Cell physiology.

Magnetic Resonance Colonography for Fibrosis Assessment in Rats with Chronic Colitis

P. Mulder, C. Bole-Feysot, P. Déchelotte, 2014, PloS one.

Peripheral blood vessels are a niche for blood-borne meningococci

T. Rattei, T. Nussbaumer, C. Bole-Feysot, 2017, Virulence.

From the molecular biology of prolactin and its receptor to the lessons learned from knockout mice models.

P. Kelly, C. Bole-Feysot, M. Edery, 1999, Genetic analysis : biomolecular engineering.

Effects of an enteral glucose supply on protein synthesis, proteolytic pathways, and proteome in human duodenal mucosa.

S. Lecleire, C. Bole-Feysot, P. Déchelotte, 2011, The American journal of clinical nutrition.

Supplemental Data Mutations in MAPKBP 1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Helge, Filhol, Sailer, 2017 .

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Steven J. M. Jones, I. Krantz, M. Brown, 2013, American journal of human genetics.

Prolactin: A Hormone at the Crossroads of Neuroimmunoendocrinology

P. Kelly, C. Bole-Feysot, M. Edery, 1998, Annals of the New York Academy of Sciences.

Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

P. Revy, C. Bole-Feysot, S. Latour, 2012, Molecular and Cellular Biology.

B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells.

P. Bierling, J. Weill, C. Reynaud, 2013, The Journal of clinical investigation.

Contribution of Phospholipase D in Endothelin-1-Mediated Extracellular Signal-Regulated Kinase Activation and Proliferation in Rat Uterine Leiomyoma Cells1

C. Bole-Feysot, P. Robin, D. Leiber, 2005, Biology of reproduction.

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

E. Aronica, C. Bole-Feysot, P. Nitschké, 2018, Molecular Autism.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

Prolactin receptors and embryonic development: Gene expression and knockout studies

P. Kelly, C. Bole-Feysot, C. Ormandy, 1998 .

Absence of driver mutations in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes.

G. Salles, J. Magaud, C. Bole-Feysot, 2017, Blood.

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

K. Dahan, C. Antignac, C. Bole-Feysot, 2014, Journal of the American Society of Nephrology : JASN.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

C. Garel, C. Depienne, A. Afenjar, 2016, Brain : a journal of neurology.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Intestinal inflammation influences α-MSH reactive autoantibodies: Relevance to food intake and body weight

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2012, Psychoneuroendocrinology.

Increased Immune Complexes of Hypocretin Autoantibodies in Narcolepsy

Y. Dauvilliers, C. Bole-Feysot, P. Déchelotte, 2010, PloS one.

Immunoglobulin G modulation of the melanocortin 4 receptor signaling in obesity and eating disorders

J. Harro, C. Bole-Feysot, P. Déchelotte, 2019, Translational Psychiatry.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

F. Rieux-Laucat, A. Fischer, C. Picard, 2011, The Journal of clinical investigation.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

A. Fischer, W. Foulkes, S. Gravel, 2018, Nature Genetics.

Combined glutamine and arginine decrease proinflammatory cytokine production by biopsies from Crohn's patients in association with changes in nuclear factor-kappaB and p38 mitogen-activated protein kinase pathways.

S. Lecleire, P. Ducrotte, M. Antonietti, 2008, The Journal of nutrition.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

J. Weill, C. Reynaud, C. Bole-Feysot, 2014, The Journal of Experimental Medicine.

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

C. Bole-Feysot, P. Nitschké, P. Mayeux, 2019, Blood.

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

A. Fischer, C. Picard, P. Revy, 2012, The Journal of experimental medicine.

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis

F. Rieux-Laucat, A. Fischer, J. Casanova, 2021, bioRxiv.

XYLT1 mutations in Desbuquois dysplasia type 2.

A. Munnich, G. Mortier, C. Bole-Feysot, 2014, American journal of human genetics.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2018, American journal of medical genetics. Part A.

Evaluation of a Supervised Adapted Physical Activity Program Associated or Not with Oral Supplementation with Arginine and Leucine in Subjects with Obesity and Metabolic Syndrome: A Randomized Controlled Trial

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2022, Nutrients.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Stress-induced intestinal barrier dysfunction is exacerbated during diet-induced obesity.

P. Ducrotte, C. Bole-Feysot, P. Déchelotte, 2020, The Journal of nutritional biochemistry.

Magnetic resonance colonography assessment of acute trinitrobenzene sulfonic acid colitis in pre-pubertal rats

C. Bole-Feysot, C. Guérin, M. Aziz, 2021, PloS one.

Glutamine induces nuclear degradation of the NF-κB p65 subunit in Caco-2/TC7 cells.

C. Bole-Feysot, A. Lavoinne, C. Lesueur, 2012, Biochimie.

Glutamine supplementation, but not combined glutamine and arginine supplementation, improves gut barrier function during chemotherapy-induced intestinal mucositis in rats.

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2014, Clinical nutrition.

A polymeric diet rich in transforming growth factor beta 2 does not reduce inflammation in chronic 2,4,6-trinitrobenzene sulfonic acid colitis in pre-pubertal rats

C. Bole-Feysot, C. Guérin, M. Aziz, 2020, BMC Gastroenterology.

Adjunct therapy of n-3 fatty acids to 5-ASA ameliorates inflammatory score and decreases NF-κB in rats with TNBS-induced colitis.

C. Bole-Feysot, P. Déchelotte, C. Guérin, 2013, The Journal of nutritional biochemistry.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

R. Redon, A. Rötig, G. Ravenscroft, 2016, American journal of human genetics.

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.

C. Bodemer, S. Duchatelet, C. Bole-Feysot, 2014, JAMA dermatology.

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

C. Sardet, N. Boddaert, Y. Hamel, 2013, Orphanet Journal of Rare Diseases.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

A. Al-ghonaium, C. Picard, C. Bole-Feysot, 2017, Human mutation.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

A. Munnich, N. Boddaert, C. Bole-Feysot, 2016, Orphanet Journal of Rare Diseases.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Hyperhomocysteinemia-induced oxidative stress differentially alters proteasome composition and activities in heart and aorta.

C. Bole-Feysot, M. Coëffier, Faouzia Derouiche, 2014, Biochemical and biophysical research communications.

Regulation of prolactin receptor mRNA expression in peripheral lymphocytes in rats in response to changes in serum concentrations of prolactin.

P. Kelly, C. Bole-Feysot, M. Nagano, 1995, Endocrinology.

Fatty acids produced by the gut microbiota dampen host inflammatory responses by modulating intestinal SUMOylation

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2022, bioRxiv.

Non-Canonical MYD88/TIRAP-Dependent Anti-Inflammatory Function of Pro-Coagulant Factor VIII

C. Bole-Feysot, L. Frenzel, O. Hermine, 2019, Blood.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of clinical immunology.

Prolactin (PRL) and its receptor: actions, signal transduction pathways and phenotypes observed in PRL receptor knockout mice.

P. Kelly, C. Bole-Feysot, M. Edery, 1998, Endocrine reviews.

Effects of rabbit anti-α-melanocyte-stimulating hormone (α-MSH) immunoglobulins on α-MSH signaling related to food intake control

C. Bole-Feysot, P. Déchelotte, W. Ouelaa, 2014, Neuropeptides.

The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis

D. Metzger, R. Mantovani, C. Bole-Feysot, 2007, Development.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Refining the phenotype associated with CASC5 mutation

A. Munnich, C. Bole-Feysot, P. Nitschké, 2015, neurogenetics.

Somatic genetic rescue of a germline ribosome assembly defect

P. Revy, A. Warren, P. Bond, 2021, Nature Communications.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

P. Revy, A. Warren, C. Bole-Feysot, 2019, Blood.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Steven A. Brown, A. Munnich, A. Schröter, 2015, Nature Neuroscience.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

F. Rieux-Laucat, A. Fischer, H. Clevers, 2014, The Journal of allergy and clinical immunology.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

Klhl6 Deficiency Impairs Transitional B Cell Survival and Differentiation

B. Bertocci, A. De Smet, J. Weill, 2017, The Journal of Immunology.

This information is current as Survival and Differentiation Klhl 6 Deficiency Impairs Transitional B Cell

B. Bertocci, J. Weill, C. Bole-Feysot, 2017 .

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

N. Boddaert, P. Sonigo, C. Bole-Feysot, 2021, Birth defects research.

Mutations in PERP Cause Dominant and Recessive Keratoderma.

R. Lifton, Y. Helfrich, F. Santos-Simarro, 2019, The Journal of investigative dermatology.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

A. Hastie, C. Bole-Feysot, P. Nitschké, 2022, European Journal of Human Genetics.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of Clinical Immunology.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

A. Hoischen, R. Pfundt, J. Veltman, 2011, American journal of human genetics.

Autoantibodies against appetite-regulating peptide hormones and neuropeptides: Putative modulation by gut microflora

T. Hökfelt, P. Ducrotte, C. Bole-Feysot, 2008, Nutrition.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Laureline Berteloot, Nicolas Grenier, Nathalie Boddaert, 2018, Nature.

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

B. Fakler, Sami Boudkkazi, C. Bole-Feysot, 2017, Nature Communications.

A role for intestinal TLR4-driven inflammatory response during activity-based anorexia

G. Riou, C. Bole-Feysot, P. Déchelotte, 2016, Scientific Reports.

Abnormal Wnt and PI3Kinase Signaling in the Malformed Intestine of lama5 Deficient Mice

C. Bole-Feysot, A. Bolcato-Bellemin, B. Jost, 2012, PloS one.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

N. Boddaert, S. Pannier, G. Canaud, 2018, Nature.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

In vivo study of prolactin (PRL) intracellular signalling during lactogenesis in the rat: JAK/STAT pathway is activated by PRL in the mammary gland but not in the liver.

P. Kelly, C. Bole-Feysot, J. Djiane, 1997, Biology of reproduction.

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2019, American journal of medical genetics. Part A.

Intestinal Epithelial Toll-like Receptor 4 Deficiency Modifies the Response to the Activity-Based Anorexia Model in a Sex-Dependent Manner: A Preliminary Study

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2022, Nutrients.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

R. Salomon, C. Antignac, S. Saunier, 2017, Journal of the American Society of Nephrology : JASN.

First Case of Fetal Goitrous Hypothyroidism Due to SLC5A5/NIS Mutations.

M. Polak, D. Kariyawasam, C. Bole-Feysot, 2020, European journal of endocrinology.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Yusuke Nakamura, Toshihiro Tanaka, A. Munnich, 2015, American journal of human genetics.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

R. Bodmer, A. Afenjar, G. Mollet, 2018, PLoS genetics.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

A. Fischer, J. Soulier, C. Picard, 2015, The Journal of allergy and clinical immunology.

Contiguous mutation syndrome in the era of high-throughput sequencing

A. Munnich, N. Boddaert, R. Barouki, 2015, Molecular genetics & genomic medicine.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

C. Bole-Feysot, P. Nitschké, M. Vekemans, 2018, European Journal of Human Genetics.

FUNCTIONAL AND GENETIC TESTING IN ADULTS WITH HLH DO NOT REVEAL A CYTOTOXICITY DEFECT BUT RATHER AN INFLAMMATORY PROFILE.

C. Bole-Feysot, P. Nitschké, M. Boucekine, 2020, Blood.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

P. Revy, M. O'Donohue, P. Gleizes, 2019, EMBO molecular medicine.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

C. Fallet-Bianco, S. Gazal, A. Laquérriere, 2012, American journal of human genetics.

Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect

C. Bole-Feysot, P. Nitschké, M. Boucekine, 2020 .

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A. Munnich, R. Scharfmann, M. Polak, 2018, EMBO molecular medicine.

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer

J. Casanova, C. Bole-Feysot, P. Nitschké, 2018, PLoS neglected tropical diseases.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2015, The Journal of clinical investigation.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2014, The Journal of clinical investigation.

Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations

G. Mollet, C. Antignac, C. Bole-Feysot, 2021, Scientific Reports.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

J. Weill, C. Reynaud, C. Bole-Feysot, 2014, The Journal of experimental medicine.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Nature Genetics.

Alterations of proteome, mitochondrial dynamic and autophagy in the hypothalamus during activity-based anorexia

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2018, Scientific Reports.

Glutamine Restores Tight Junction Protein Claudin-1 Expression in Colonic Mucosa of Patients With Diarrhea-Predominant Irritable Bowel Syndrome.

P. Ducrotte, C. Bole-Feysot, P. Déchelotte, 2016, JPEN. Journal of parenteral and enteral nutrition.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

TAF9b (Formerly TAF9L) Is a Bona Fide TAF That Has Unique and Overlapping Roles with TAF9

L. Tora, M. Frontini, C. Bole-Feysot, 2005, Molecular and Cellular Biology.

TAF 9 b ( Formerly TAF 9 L ) Is a Bona Fide TAF That Has Unique and Overlapping Roles with TAF 9

L. Tora, M. Frontini, C. Bole-Feysot, 2005 .

Oncogenetic landscape of lymphomagenesis in coeliac disease

T. Molina, E. Macintyre, C. Bole-Feysot, 2020, Gut.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

S. Saunier, C. Bole-Feysot, P. Nitschké, 2016, Human mutation.

Analysis of prolactin-modulated gene expression profiles during the Nb2 cell cycle using differential screening techniques

P. Kelly, C. Bole-Feysot, B. Bouchard, 2000, Genome Biology.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

Increased Ghrelin but Low Ghrelin-Reactive Immunoglobulins in a Rat Model of Methotrexate Chemotherapy-Induced Anorexia

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2016, Front. Nutr..

Bacterial ClpB heat-shock protein, an antigen-mimetic of the anorexigenic peptide α-MSH, at the origin of eating disorders

J. Harro, C. Bole-Feysot, P. Déchelotte, 2014, Translational Psychiatry.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

A. Munnich, N. Boddaert, A. Rötig, 2018, American journal of human genetics.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

S. Saunier, C. Bole-Feysot, P. Nitschké, 2018, Human molecular genetics.

High-Resolution Typing of Staphylococcus epidermidis Based on Core Genome Multilocus Sequence Typing To Investigate the Hospital Spread of Multidrug-Resistant Clones

C. Bole-Feysot, A. Charbit, J. Magny, 2020, Journal of Clinical Microbiology.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

A. Fischer, C. Ellingsen, H. Clevers, 2014, The Journal of clinical investigation.

Anti-neuropeptide Y plasma immunoglobulins in relation to mood and appetite in depressive disorder

J. Harro, C. Bole-Feysot, P. Déchelotte, 2012, Psychoneuroendocrinology.

Mutations in BOREALIN cause thyroid dysgenesis

A. Munnich, R. Scharfmann, M. Polak, 2016, Human molecular genetics.

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, A. Rötig, C. Bole-Feysot, 2012, Molecular genetics and metabolism.

Effects of Bacterial CLPB Protein Fragments on Food Intake and PYY Secretion

C. Bole-Feysot, P. Déchelotte, J. Do Régo, 2021, Nutrients.

Glutamine and interleukin‐1β interact at the level of Sp1 and nuclear factor‐κB to regulate argininosuccinate synthetase gene expression

C. Bole-Feysot, A. Lavoinne, A. Husson, 2007 .

Self‐Assembled Small‐Molecule Microarrays for Protease Screening and Profiling

Jennifer L. Harris, C. Bole-Feysot, François Debaene, 2006, Chembiochem : a European journal of chemical biology.

Galanin and α-MSH autoantibodies in cerebrospinal fluid of patients with Alzheimer's disease

T. Hökfelt, E. Sinforiani, P. Bini, 2011, Journal of Neuroimmunology.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

A. Fischer, W. Foulkes, S. Gravel, 2018, Nature Genetics.

Resequencing Microarray Technology for Genotyping Human Papillomavirus in Cervical Smears

C. Bole-Feysot, S. Brisse, N. Berthet, 2014, PloS one.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

A rare castration‐resistant progenitor cell population is highly enriched in Pten‐null prostate tumours

L. Kenner, R. Moriggl, C. Bole-Feysot, 2017, The Journal of pathology.

A rare castration-resistant progenitor cell population is highly enriched in Ptennull prostate tumors: Castration-resistant progenitors are enriched in Pten-/- prostates

L. Kenner, R. Moriggl, C. Bole-Feysot, 2017 .

Endothelin-1 inhibits apoptosis through a sphingosine kinase 1-dependent mechanism in uterine leiomyoma ELT3 cells.

C. Bole-Feysot, Y. Banno, P. Robin, 2006, Endocrinology.

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

M. Polak, S. Hanein, G. Pinto, 2021, Frontiers in Endocrinology.

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

M. Polak, C. Bole-Feysot, P. Nitschké, 2018, Thyroid : official journal of the American Thyroid Association.

C. Bole-Feysot, P. Déchelotte, W. Ouelaa, 2015, Nutrition.

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Glutamine and interleukin-1beta interact at the level of Sp1 and nuclear factor-kappaB to regulate argininosuccinate synthetase gene expression.

C. Bole-Feysot, A. Lavoinne, A. Husson, 2007, The FEBS journal.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Ghrelin-reactive immunoglobulins and anxiety, depression and stress-induced cortisol response in adolescents. The TRAILS study

F. Verhulst, C. Bole-Feysot, P. Déchelotte, 2015, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Regulation of feeding and anxiety by α-MSH reactive autoantibodies

T. Hökfelt, P. Ducrotte, C. Bole-Feysot, 2009, Psychoneuroendocrinology.

Maintaining physical activity during refeeding improves body composition, intestinal hyperpermeability and behavior in anorectic mice

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2016, Scientific Reports.

Effects of Macronutrients on the In Vitro Production of ClpB, a Bacterial Mimetic Protein of α-MSH and Its Possible Role in Satiety Signaling

C. Bole-Feysot, P. Déchelotte, C. Guérin, 2019, Nutrients.

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

A. Munnich, N. Boddaert, C. Bole-Feysot, 2023, BMC Medical Genomics.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Dietary AhR Ligands Have No Anti-Fibrotic Properties in TGF-β1-Stimulated Human Colonic Fibroblasts

C. Bole-Feysot, G. Savoye, R. Marion-Letellier, 2022, Nutrients.

Intestinal permeability and appetite regulating peptides-reactive immunoglobulins in severely malnourished women with anorexia nervosa.

C. Bole-Feysot, P. Déchelotte, M. Coëffier, 2022, Clinical nutrition.

Identification of novel striatal genes by expression profiling in adult mouse brain

D. Filliol, K. Befort, C. Bole-Feysot, 2007, Neuroscience.

Methotrexate induces intestinal mucositis and alters gut protein metabolism independently of reduced food intake

C. Bole-Feysot, J. Leblond, P. Déchelotte, 2008 .

Suppression subtractive hybridization (SSH) identifies prolactin stimulation of p38 MAP kinase gene expression in Nb2 T lymphoma cells: molecular cloning of rat p38 MAP kinase.

C. Bole-Feysot, L. Tashima, E. Németh, 1998, Journal of molecular endocrinology.

Targeting immunoproteasome and glutamine supplementation prevent intestinal hyperpermeability.

P. Ducrotte, C. Bole-Feysot, P. Déchelotte, 2017, Biochimica et biophysica acta. General subjects.

Ghrelin-reactive immunoglobulins and anxiety, depression and stress-induced cortisol response in adolescents. The TRAILS study

F. Verhulst, C. Bole-Feysot, P. Déchelotte, 2015, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

A. Köttgen, T. Ahluwalia, O. Gribouval, 2019, The Journal of clinical investigation.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of Clinical Immunology.