Christine Bole-Feysot

Christine Bole-Feysot

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Christine Bole-Feysot

Christine Bole-Feysot

Publications by authors named "Christine Bole-Feysot"

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A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.

J Invest Dermatol 2019 Nov 1. Epub 2019 Nov 1.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.06.154DOI Listing
November 2019

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

Nutrients 2019 Sep 5;11(9). Epub 2019 Sep 5.

TargEDys SA, Faculty of Medicine and Pharmacy, University of Rouen Normandy, 22, Boulevard Gambetta, Cedex 01, 76183 Rouen, France.

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http://dx.doi.org/10.3390/nu11092115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769967PMC
September 2019

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

Am J Med Genet A 2019 Jul 19;179(7):1304-1309. Epub 2019 Apr 19.

Laboratory of embryology and genetics of malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61151DOI Listing
July 2019

Mutations in PERP Cause Dominant and Recessive Keratoderma.

J Invest Dermatol 2019 Feb 12;139(2):380-390. Epub 2018 Oct 12.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183266
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http://dx.doi.org/10.1016/j.jid.2018.08.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586468PMC
February 2019

Role of in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

Mol Autism 2018 19;9:38. Epub 2018 Jun 19.

1INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Imagine Institute, Necker-Enfants Malades Hospital, 24 Boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1186/s13229-018-0219-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011198PMC
October 2018

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

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

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

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

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

Am J Med Genet A 2018 01 21;176(1):181-186. Epub 2017 Nov 21.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38536DOI Listing
January 2018

Klhl6 Deficiency Impairs Transitional B Cell Survival and Differentiation.

J Immunol 2017 10 14;199(7):2408-2420. Epub 2017 Aug 14.

Équipe Développement du Systéme Immunitaire, Institut Necker-Enfant Malades, INSERM U1151-CNRS UMR8253, Faculté de Médecine Paris Decartes, Université Paris Descartes, Sorbone Paris Cité, 75993 Paris Cedex 14, France;

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http://dx.doi.org/10.4049/jimmunol.1700708DOI Listing
October 2017

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

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

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

J Pathol 2017 09 28;243(1):51-64. Epub 2017 Jul 28.

Institut Necker Enfants Malades (INEM), Inserm U1151-CNRS UMR 8253, University Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine, Paris, France.

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http://dx.doi.org/10.1002/path.4924DOI Listing
September 2017

Targeting immunoproteasome and glutamine supplementation prevent intestinal hyperpermeability.

Biochim Biophys Acta Gen Subj 2017 Jan 17;1861(1 Pt A):3278-3288. Epub 2016 Aug 17.

Normandie Univ, INSERM unit 1073, Nutrition, Inflammation and Gut-brain axis, Rouen, France; Rouen University, Institute for Research and Innovation in Biomedicine, Rouen, France; Department of Nutrition, Rouen University Hospital, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2016.08.010DOI Listing
January 2017

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

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

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

Cytokine 2016 10 25;86:41-46. Epub 2016 Jul 25.

Normandie Univ, INSERM Unit 1073, Nutrition, Inflammation and Gut-Brain Axis, Rouen, France; University of Rouen, Institute for Research and Innovation in Biomedicine (IRIB), Rouen, France; Department of Nutrition, Rouen University Hospital, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.cyto.2016.07.014DOI Listing
October 2016

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

Front Nutr 2016 26;3:23. Epub 2016 Jul 26.

Nutrition, Gut and Brain Laboratory, INSERM UMR1073, Rouen, France; Institute for Research and Innovation in Biomedicine (IRIB), Rouen University, Normandy University, Rouen, France.

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http://dx.doi.org/10.3389/fnut.2016.00023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960292PMC
August 2016

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103647DOI Listing
July 2016

Refining the phenotype associated with CASC5 mutation.

Neurogenetics 2016 Jan 1;17(1):71-8. Epub 2015 Dec 1.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0468-7DOI Listing
January 2016

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

J Allergy Clin Immunol 2015 Dec 26;136(6):1619-1626.e5. Epub 2015 Jul 26.

INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.06.008DOI Listing
December 2015

Resequencing microarray technology for genotyping human papillomavirus in cervical smears.

PLoS One 2014 10;9(11):e109301. Epub 2014 Nov 10.

Institut Pasteur, Centre National de Référence des Papillomavirus, 75724 Paris Cedex 15, France; Institut Pasteur, Unité de Génétique, Papillomavirus et Cancer humain, 75724 Paris Cedex 15, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109301PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226468PMC
July 2015

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

Prog Neuropsychopharmacol Biol Psychiatry 2015 Jun 3;59:1-7. Epub 2015 Jan 3.

Nutrition, Gut and Brain Laboratory, Inserm UMR1073, Institute for Research and Innovation in Biomedicine (IRIB), Rouen University, Normandy University, 76183, France. Electronic address:

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http://dx.doi.org/10.1016/j.pnpbp.2014.12.011DOI Listing
June 2015

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015

Sex-related effects of nutritional supplementation of Escherichia coli: relevance to eating disorders.

Nutrition 2015 Mar 5;31(3):498-507. Epub 2014 Dec 5.

Inserm UMR1073, Nutrition, Gut and Brain Laboratory, Rouen, France; Institute for Research and Innovation in Biomedicine (IRIB), Rouen University, Normandy University, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.nut.2014.11.003DOI Listing
March 2015

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

J Am Soc Nephrol 2014 Dec 22;25(12):2740-51. Epub 2014 May 22.

Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;

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http://dx.doi.org/10.1681/ASN.2013080912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243343PMC
December 2014

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

J Allergy Clin Immunol 2014 Dec 28;134(6):1354-1364.e6. Epub 2014 Aug 28.

INSERM, Unité U1163, Laboratoire Homéostasie normale et pathologique du système immunitaire, Hôpital Necker Enfants-Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Unité d'Immunologie et Hématologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Paris, France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.07.019DOI Listing
December 2014

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

J Am Soc Nephrol 2014 Nov 29;25(11):2435-43. Epub 2014 May 29.

INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France;

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http://www.jasn.org/cgi/doi/10.1681/ASN.2013101126
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http://dx.doi.org/10.1681/ASN.2013101126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214529PMC
November 2014

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

Biochem Biophys Res Commun 2014 Sep 4;452(3):740-5. Epub 2014 Sep 4.

INSERM Unit 1073, Rouen, France; Institute for Research and Innovation in Biomedicine, Rouen University, Rouen, France; Rouen University Hospital, Nutrition Unit, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.08.141DOI Listing
September 2014

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

Clin Nutr 2014 Aug 25;33(4):694-701. Epub 2013 Sep 25.

INSERM Unit 1073, Rouen University, Rouen, France; Institute for Research and Innovation in Biomedicine, Rouen University, Rouen, France; Nutrition Unit, Rouen University Hospital, Rouen, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02615614130024
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http://dx.doi.org/10.1016/j.clnu.2013.09.003DOI Listing
August 2014

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

JAMA Dermatol 2014 Mar;150(3):303-6

Institut National de la Santé et de la Recherche Médicale, U781, Paris, France2Université Paris Descartes-Sorbonne Paris Cité, Paris, France3Institut Imagine, Paris, France9Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpit.

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http://dx.doi.org/10.1001/jamadermatol.2013.8709DOI Listing
March 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951945PMC
March 2014

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

Neuropeptides 2014 Feb 1;48(1):21-7. Epub 2013 Nov 1.

Inserm UMR1073, Nutrition, Gut and Brain Laboratory, Rouen 76183, France; Institute for Research and Innovation in Biomedicine (IRIB), Rouen University, Normandy University, Rouen 76183, France. Electronic address:

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http://dx.doi.org/10.1016/j.npep.2013.10.017DOI Listing
February 2014

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

J Nutr Biochem 2013 Apr 26;24(4):700-5. Epub 2012 Jul 26.

Appareil Digestif Environnement Nutrition (ADEN EA 4311), Medicine University, IFR 23, Institute of Biomedical Research, Rouen, France.

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http://linkinghub.elsevier.com/retrieve/pii/S095528631200106
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http://dx.doi.org/10.1016/j.jnutbio.2012.03.022DOI Listing
April 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

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

Mol Genet Metab 2012 Dec 22;107(4):700-4. Epub 2012 Oct 22.

Assistance Publique-Hôpitaux de Paris, Services de Génétique, de Cytogénétique et de Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149, rue de Sèvres 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.008DOI Listing
December 2012

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

Psychoneuroendocrinology 2012 Sep 23;37(9):1457-67. Epub 2012 Feb 23.

Nutrition, Gut and Brain Laboratory, Inserm U1073, Institute for Research and Innovation in Biomedicine-IRIB, Rouen University, Normandy 76183, France.

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http://dx.doi.org/10.1016/j.psyneuen.2012.01.015DOI Listing
September 2012

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

Dev Cell 2012 Jun;22(6):1191-207

Department of Developmental Biology, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8103, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.devcel.2012.04.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376351PMC
June 2012

Methotrexate modulates tight junctions through NF-κB, MEK, and JNK pathways.

J Pediatr Gastroenterol Nutr 2012 Apr;54(4):463-70

INSERM U1073, Institute for Biomedical Research, IFRMP23, Rouen University, 22 Boulevard Gambetta, Rouen Cedex 1, France.

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http://dx.doi.org/10.1097/MPG.0b013e318247240dDOI Listing
April 2012

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

Biochimie 2012 Mar 2;94(3):806-15. Epub 2011 Dec 2.

EA NeoVasc 4309, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Rouen Institute for Biomedical Research, European Institute for Peptide Research (IFRMP 23), University of Rouen, Rouen, France.

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http://linkinghub.elsevier.com/retrieve/pii/S030090841100451
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http://dx.doi.org/10.1016/j.biochi.2011.11.012DOI Listing
March 2012