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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Autor

Jean Muller

Eveline Boudin

Wim Van Hul

Débora R Bertola

Geert Mortier

Agnes Bloch-Zupan

Hélène Dollfus

veröffentlicht in: Human Molecular Genetics

Erscheinungsdatum: 2015-02-10

Zitiert Artikel 41

Datum

Titel

Autor

2015-03-03

VaRank: a simple and powerful tool for ranking genetic variants

Cécile Pizot, Amélie Piton, Jean Muller
2014

Analysis of enamel development using murine model systems: approaches and limitations
2014-07-29

Fluoride affects enamel protein content via TGF-β1-mediated KLK4 inhibition

John D Bartlett
2014-07-04

Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice

John D Bartlett
2014-03-26

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course

Giedre Grigelioniene, Magnus Nordenskjöld, Ann Nordgren, Outi Mäkitie
2013-11-20

TGF-ß regulates enamel mineralization and maturation through KLK4 expression

Naoto Haruyama, Praveen R. Arany
2013-09-16

Polarity of mature human odontoblasts

Leo Tjäderhane, Virve Pääkkönen, Juha Tuukkanen
2013-03-26

Molars and incisors: show your microarray IDs.

Christelle Thibault
2013-05-28

Expression of Clu and Tgfb1 during murine tooth development: effects of in-vivo transfection with anti-miR-214

Steinar Risnes
2013-07-26

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations

Shuji Mizumoto
2012-09-27

From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies

Agnes Bloch-Zupan
2012-11-08

TRPV4 channels mediate cardiac fibroblast differentiation by integrating mechanical and soluble signals
2012-07-07

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

Jean Muller, Florence Petit, Didier Lacombe, Alain Verloes, Jean-Louis Mandel, Corinne Stoetzel, Claire Redin, Bernard Jost, Hélène Dollfus
2012-04-23

Targeted overexpression of amelotin disrupts the microstructure of dental enamel

Rodrigo S Lacruz
2012-03-06

Altered responsiveness to TGF-β results in reduced Papss2 expression and alterations in the biomechanical properties of mouse articular cartilage
2011-12-09

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

Hélène Dollfus, Agnès Bloch-Zupan, Jean Muller, Uwe Strähle
2011-09-08

Genes into geometry: imaging for mouse development in 3D.
2010-04-01

Gene expression and dental enamel structure in developing mouse incisor

Steinar Risnes
2009-04-02

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
2009-04-01

Transforming growth factor-beta1 expression is up-regulated in maturation-stage enamel organ and may induce ameloblast apoptosis

Masahiro Tsuchiya, Coralee E Tye, John D Bartlett
2009-06-01

TGF-beta1 and TGFBR1 are expressed in ameloblasts and promote MMP20 expression
2009-03-01

Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity

Débora R Bertola, Chong Ae Kim
2008-10

Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells

Jorma Keski-Oja
2008-02-01

Mouse models of tooth abnormalities

Paul Thomas Sharpe, Abigail S. Tucker
2008-03-01

Expression of latent transforming growth factor beta binding proteins in the rat brain.

Miklós Palkovits
2007-04-04

Amelogenesis imperfecta

Agnes Bloch-Zupan
2007-05-17

TGF-beta superfamily signaling is essential for tooth and hair morphogenesis and differentiation.

Daniel Metzger, Pierre Chambon
2006-07-12

Transforming growth factor beta1, bone connection
2006-05-01

Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects

Naoto Haruyama
2005-08-01

Lung alveolar septation defects in Ltbp-3-null mice
2005-07-01

Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice
2004-01-01

Latent TGF-beta binding proteins: extracellular matrix association and roles in TGF-beta activation

Artikel - wd:Q35585269

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