← Zurück

Pr-Agnes-Bloch-Zupan

Pr. Agnès Bloch-Zupan

Professor Oral Biology

 

Role in the project : Scientific coordinator

agnes.bloch-zupan@unistra.fr

Faculty of Oral Medicine, University of Strasbourg
8 rue St Elisabeth – 67000 Strasbourg – France

Pôle de Médecine et Chirurgie Bucco-Dentaires
Hôpitaux Universitaires de Strasbourg – 1 place de l’Hôpital – 67000 Strasbourg

Institute of Genetics and and Molecular and Cellular Biology, IGBMC
CNRS UMR 7104 – Inserm U 964 – 1 rue Laurent Fries – BP 10142

FUNDING

  • University of Strasbourg
  • French Ministry of Health (National Program for Clinical Research, PHRC 2008-2014 N°4266 Amelogenesis imperfecta)
  • Hôpitaux Universitaires de Strasbourg (API, 2009-2014, “Development of the oral cavity: from gene to clinical phenotype in Human”)
  • IFRO (Institut Français pour la Recherche Odontologique) 2008,2012
  • Fondation Maladies Rares 2012
  • EU-funded project (ERDF) A27 “Oro-dental manifestations of rare diseases”, supported by the RMT-TMO Offensive Sciences initiative, INTERREG IV Upper Rhine program 2012-2015

DESCRIPTION

My translational research group is interested in understanding the genetics and gene regulatory networks that control the formation of the craniofacial area with a special focus on the oral cavity and concentrates on malformations encountered in human rare diseases or in animal models mimicking these genetic diseases

PUBLICATIONS

Mutations in the Latent TGF-beta Binding Protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerl J, Weickert JL, Dabovic B, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, McLeod R, Antequera R, Gell MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manire MC, Van Hul W, Bertola D, Doll P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A.

Hum Mol Genet. 2015 Feb 10. pii: ddv053. [Epub ahead of print]

Read the article : http://www.ncbi.nlm.nih.gov/pubmed/25669657

RSK2 is a modulator of craniofacial development.

Laugel-Haushalter V, Paschaki M, Marangoni P, Pilgram C, Langer A, Kuntz T, Demassue J, Morkmued S, Choquet P, Constantinesco A, Bornert F, Schmittbuhl M, Pannetier S, Viriot L, Hanauer A, Dollé P, Bloch-Zupan A.

PLoS One. 2014 Jan 8;9(1):e84343.

doi:10.1371/journal.pone.0084343. eCollection 2014.

Read the article : http://www.ncbi.nlm.nih.gov/pubmed/24416220

Clinical utility gene card for: hypophosphatasia – update 2013.

Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7.

Read the article : http://www.ncbi.nlm.nih.gov/pubmed/23921539

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A.
J Dent Res. 2013 Jul;92(7):598-603.
doi:10.1177/0022034513488393. Epub 2013 Apr 26.
Read the article : http://www.ncbi.nlm.nih.gov/pubmed/23625376

Molars and incisors: show your microarray IDs.

Laugel-Haushalter V, Paschaki M, Thibault-Carpentier C, Dembelé D, Dollé P, Bloch-Zupan A.
BMC Res Notes. 2013 Mar 26;6:113. doi: 10.1186/1756-0500-6-113.
Read the article : http://www.ncbi.nlm.nih.gov/pubmed/23531410

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.
Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.
Read the article : http://www.ncbi.nlm.nih.gov/pubmed/23434854

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H.
Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi:10.1016/j.ajhg.2011.11.002.

KEYWORDS

  • Craniofacial Development
  • Tooth development and anomalies
  • Rare Diseases
  • Amelogenesis imperfecta
  • Dentinogenesis imperfecta
  • Oligodontia
  • Hypophosphatasia
  • Human Genetics
  • Animal Models