Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W
Khandelwal, Kriti D
Dreesen, Karoline
Ludwig, Kerstin U
Sullivan, Robert
van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
van de Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, Anna
Devriendt, Koenraad
Roeleveldt, Nel
Jhangiani, Shalini N
Vissers, Lisenka E L M
Lupski, James R
de Ligt, Joep
Von den Hoff, Johannes W
Pfundt, Rolph
Brunner, Han G
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
van Bokhoven, Hans
Dixon, Michael J
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine

March 2016

We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C.W.
Khandelwal, K.
Dreesen, K.
Ludwig, K.U.
Sullivan, R.
Rooij, I.A.L.M. van
Thonissen, M.
Swinnen, S.
Phan, M.
Conte, F.
Ishorst, N.
Gilissen, C.F.
Roa Fuentes, L.A.
Vorst, J.M. van de
Henkes, A.
Steehouwer, M.
Beusekom, E. van
Bloemen, M.
Vankeirsbilck, B.
Berge, S.J.
Hens, G.
Schoenaers, J.
Poorten, V. Van der
Roosenboom, J.
Verdonck, A.
Devriendt, K.
Roeleveld, N.
Jhangiani, S.N.
Vissers, L.E.L.M.
Lupski, J.R.
Ligt, J. de
Hoff, J.W. Von den
Pfundt, R.P.
Brunner, H.G.
Zhou, H.
Dixon, J.
Mangold, E.
Bokhoven, H. van
Dixon, M.J.
Kleefstra, T.
Hoischen, A.
Carels, C.E.L.

January 2016

PURPOSE: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W.
Khandelwal, Kriti D.
Dreesen, Karoline
Ludwig, Kerstin U.
Sullivan, Robert
Van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
Van De Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
Van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, An
Devriendt, Koen
Roeleveldt, Nel
Jhangiani, Shalini N.
Vissers, Lisenka E L M
Lupski, James R.
De Ligt, Joep
Von Den Hoff, Johannes W.
Pfundt, Rolph
Brunner, Han G.
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
Van Bokhoven, Hans
Dixon, Michael J.
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine E L

November 2016

Purpose:We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting ...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W.
Khandelwal, Kriti D.
Dreesen, Karoline
Ludwig, Kerstin U.
Sullivan, Robert
Van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
Van De Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
Van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, An
Devriendt, Koen
Roeleveldt, Nel
Jhangiani, Shalini N.
Vissers, Lisenka E L M
Lupski, James R.
De Ligt, Joep
Von Den Hoff, Johannes W.
Pfundt, Rolph
Brunner, Han G.
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
Van Bokhoven, Hans
Dixon, Michael J.
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine E L

November 2016

Purpose:We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting ...

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

Kuan-Yu Chu
Yin-Lin Wang
Yu-Ren Chou
Jung-Tsu Chen
Yi-Ping Wang
James P. Simmer
Jan C.-C. Hu
Shih-Kai Wang

November 2021

Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of t...

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis

Yan-xia Huang
Chun-yan Gao
Chun-yan Zheng
Xu Chen
You-sheng Yan
Yong-qing Sun
Xing-yue Dong
Kai Yang
Dong-liang Zhang

July 2021

BackgroundThe low-density lipoprotein receptor-related protein 6 (LRP6) gene is a recently defined g...

A novel LRP6 variant in a Japanese family with oligodontia

Hiroki Goto
Masashi Kimura
Junichiro Machida
Akiko Ota
Mitsuko Nakashima
Naomi Tsuchida
Junya Adachi
Yoshihiko Aoki
Tadashi Tatematsu
Katsu Takahashi
Masatoshi Sana
Atsuo Nakayama
Shintaro Suzuki
Toru Nagao
Naomichi Matsumoto
Yoshihito Tokita

July 2021

Abstract Congenital tooth agenesis is a common anomaly in human development. We performed exome sequ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P.G.
Créton, Marijn A.
Spanevello, Francesca
Fennis, Willem M.M.
Cune, Marco S.
Savelberg, Sanne M.C.
Nijman, Isaäc J.
Maurice, Madelon M.
van den Boogaard, Marie-José H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Below, J. E.
Baugh, E. H.
Kayserili, H.
Doddapaneni, H.
Hu, J.
Muzny, D. M.
Boerwinkle, E.
Gibbs, R. A.
Lupski, J. R.
Letra, A.
Uyguner, Z. O.
Dinckan, N.
Erdem, A. P.
Du, R.
Petty, L. E.
Coban-Akdemir, Z.
Jhangiani, S. N.
Paine, I.

January 2018

Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W
Khandelwal, Kriti D
Dreesen, Karoline
Ludwig, Kerstin U
Sullivan, Robert
van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
van de Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, Anna
Devriendt, Koenraad
Roeleveldt, Nel
Jhangiani, Shalini N
Vissers, Lisenka E L M
Lupski, James R
de Ligt, Joep
Von den Hoff, Johannes W
Pfundt, Rolph
Brunner, Han G
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
van Bokhoven, Hans
Dixon, Michael J
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine

March 2016

We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C.W.
Khandelwal, K.
Dreesen, K.
Ludwig, K.U.
Sullivan, R.
Rooij, I.A.L.M. van
Thonissen, M.
Swinnen, S.
Phan, M.
Conte, F.
Ishorst, N.
Gilissen, C.F.
Roa Fuentes, L.A.
Vorst, J.M. van de
Henkes, A.
Steehouwer, M.
Beusekom, E. van
Bloemen, M.
Vankeirsbilck, B.
Berge, S.J.
Hens, G.
Schoenaers, J.
Poorten, V. Van der
Roosenboom, J.
Verdonck, A.
Devriendt, K.
Roeleveld, N.
Jhangiani, S.N.
Vissers, L.E.L.M.
Lupski, J.R.
Ligt, J. de
Hoff, J.W. Von den
Pfundt, R.P.
Brunner, H.G.
Zhou, H.
Dixon, J.
Mangold, E.
Bokhoven, H. van
Dixon, M.J.
Kleefstra, T.
Hoischen, A.
Carels, C.E.L.

January 2016

PURPOSE: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W.
Khandelwal, Kriti D.
Dreesen, Karoline
Ludwig, Kerstin U.
Sullivan, Robert
Van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
Van De Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
Van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, An
Devriendt, Koen
Roeleveldt, Nel
Jhangiani, Shalini N.
Vissers, Lisenka E L M
Lupski, James R.
De Ligt, Joep
Von Den Hoff, Johannes W.
Pfundt, Rolph
Brunner, Han G.
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
Van Bokhoven, Hans
Dixon, Michael J.
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine E L

November 2016

Purpose:We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting ...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, Charlotte W.
Khandelwal, Kriti D.
Dreesen, Karoline
Ludwig, Kerstin U.
Sullivan, Robert
Van Rooij, Iris A L M
Thonissen, Michelle
Swinnen, Steven
Phan, Milien
Conte, Federica
Ishorst, Nina
Gilissen, Christian
Roa Fuentes, Laury
Van De Vorst, Maartje
Henkes, Arjen
Steehouwer, Marloes
Van Beusekom, Ellen
Bloemen, Marjon
Vankeirsbilck, Bruno
Bergé, Stefaan
Hens, Greet
Schoenaers, Joseph
Vander Poorten, Vincent
Roosenboom, Jasmien
Verdonck, An
Devriendt, Koen
Roeleveldt, Nel
Jhangiani, Shalini N.
Vissers, Lisenka E L M
Lupski, James R.
De Ligt, Joep
Von Den Hoff, Johannes W.
Pfundt, Rolph
Brunner, Han G.
Zhou, Huiqing
Dixon, Jill
Mangold, Elisabeth
Van Bokhoven, Hans
Dixon, Michael J.
Kleefstra, Tjitske
Hoischen, Alexander
Carels, Carine E L

November 2016

Purpose:We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting ...

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

Kuan-Yu Chu
Yin-Lin Wang
Yu-Ren Chou
Jung-Tsu Chen
Yi-Ping Wang
James P. Simmer
Jan C.-C. Hu
Shih-Kai Wang

November 2021

Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of t...

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis

Yan-xia Huang
Chun-yan Gao
Chun-yan Zheng
Xu Chen
You-sheng Yan
Yong-qing Sun
Xing-yue Dong
Kai Yang
Dong-liang Zhang

July 2021

BackgroundThe low-density lipoprotein receptor-related protein 6 (LRP6) gene is a recently defined g...

A novel LRP6 variant in a Japanese family with oligodontia

Hiroki Goto
Masashi Kimura
Junichiro Machida
Akiko Ota
Mitsuko Nakashima
Naomi Tsuchida
Junya Adachi
Yoshihiko Aoki
Tadashi Tatematsu
Katsu Takahashi
Masatoshi Sana
Atsuo Nakayama
Shintaro Suzuki
Toru Nagao
Naomichi Matsumoto
Yoshihito Tokita

July 2021

Abstract Congenital tooth agenesis is a common anomaly in human development. We performed exome sequ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P.G.
Créton, Marijn A.
Spanevello, Francesca
Fennis, Willem M.M.
Cune, Marco S.
Savelberg, Sanne M.C.
Nijman, Isaäc J.
Maurice, Madelon M.
van den Boogaard, Marie-José H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Below, J. E.
Baugh, E. H.
Kayserili, H.
Doddapaneni, H.
Hu, J.
Muzny, D. M.
Boerwinkle, E.
Gibbs, R. A.
Lupski, J. R.
Letra, A.
Uyguner, Z. O.
Dinckan, N.
Erdem, A. P.
Du, R.
Petty, L. E.
Coban-Akdemir, Z.
Jhangiani, S. N.
Paine, I.

January 2018

Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P. G.
Creton, Marijn A.
Spanevello, Francesca
Fennis, Willem M. M.
Cune, Marco S.
Savelberg, Sanne M. C.
Nijman, Isaac J.
Maurice, Madelon M.
van den Boogaard, Marie-Jose H.
van Haaften, Gijs

October 2015

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form ...

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Abstract

Extracted data

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Abstract

Extracted data

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