Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (Q35585269)

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29 February 2020

title

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

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29 February 2020

6

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Eveline Boudin

20

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29 February 2020

Wim Van Hul

30

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29 February 2020

Débora R Bertola

31

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Geert Mortier

34

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29 February 2020

Agnes Bloch-Zupan

36

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35

Hélène Dollfus

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33

Alain Verloes

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author name string

Mathilde Huckert

1

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29 February 2020

Corinne Stoetzel

2

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29 February 2020

Supawich Morkmued

3

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29 February 2020

Virginie Laugel-Haushalter

4

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29 February 2020

Véronique Geoffroy

5

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29 February 2020

François Clauss

7

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29 February 2020

Megana K Prasad

8

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29 February 2020

Frédéric Obry

9

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29 February 2020

Jean Louis Raymond

10

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29 February 2020

Marzena Switala

11

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29 February 2020

Yves Alembik

12

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Sylvie Soskin

13

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Eric Mathieu

14

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29 February 2020

Joseph Hemmerlé

15

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Jean-Luc Weickert

16

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29 February 2020

Branka Brukner Dabovic

17

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29 February 2020

Daniel B Rifkin

18

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29 February 2020

Annelies Dheedene

19

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Oana Caluseriu

21

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29 February 2020

Marie-Claude Cholette

22

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29 February 2020

Ross Mcleod

23

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29 February 2020

Reynaldo Antequera

24

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Marie-Paule Gellé

25

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29 February 2020

Jean-Louis Coeuriot

26

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29 February 2020

Louis-Frédéric Jacquelin

27

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29 February 2020

Isabelle Bailleul-Forestier

28

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29 February 2020

Marie-Cécile Manière

29

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29 February 2020

Pascal Dollé

32

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29 February 2020

publication date

10 February 2015

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29 February 2020

published in

Human Molecular Genetics

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29 February 2020

volume

24

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29 February 2020

issue

11

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29 February 2020

page(s)

3038-3049

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VaRank: a simple and powerful tool for ranking genetic variants

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Analysis of enamel development using murine model systems: approaches and limitations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

TGF-ß regulates enamel mineralization and maturation through KLK4 expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Polarity of mature human odontoblasts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Molars and incisors: show your microarray IDs.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Targeted overexpression of amelotin disrupts the microstructure of dental enamel

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Genes into geometry: imaging for mouse development in 3D.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Mouse models of tooth abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

12 July 2018

Amelogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Transforming growth factor beta1, bone connection.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Lung alveolar septation defects in Ltbp-3-null mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Making sense of latent TGFbeta activation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Bone defects in latent TGF-beta binding protein (Ltbp)-3 null mice; a role for Ltbp in TGF-beta presentation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Ultrastructural differentiation in the distal ends of ameloblasts from the presecretory zone to the early secretory zone

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Gene expression and dental enamel structure in developing mouse incisor

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Growth retardation as well as spleen and thymus involution in latent TGF-beta binding protein (Ltbp)-3 null mice.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

In situ hybridization analysis of transforming growth factor-beta 1 RNA expression during mouse tooth development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV053

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV053

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424950

Immunohistochemistry and in situ hybridization investigation of transforming growth factor-beta: during odontoblast and ameloblast differentiation

7 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25669657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV053

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25669657%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25669657%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

25669657

1 reference