Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S
Carbone A
Ritelli M
Fusco C
Giambra V
Nardella G
Notarangelo A
Panelli P
Mazzoccoli G
Zoppi N
Grammatico P
Wade EM
Colombi M
Castori M
Micale L.

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

Morlino, Silvia
Carbone, Annalucia
Ritelli, Marco
Fusco, Carmela
Giambra, Vincenzo
Nardella, Grazia
Notarangelo, Angelantonio
Panelli, Patrizio
Mazzoccoli, Gianluigi
Zoppi, Nicoletta
Grammatico, Paola
Wade, Emma M
Colombi, Marina
Castori, Marco
Micale, Lucia

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Thienpont, Bernard
Zhang, Litu
Postma, Alex V
Breckpot, Jeroen
Tranchevent, Leon-Charles
Van Loo, Peter
Mollgard, Kjedl
Tommerup, Niels
Bache, Iben
Tumer, Zeynep
van Engelen, Klaartje
Menten, Björn
Mortier, Geert
Waggoner, Darrel
Gewillig, Marc
Moreau, Yves
Devriendt, Koen
Larsen, Lars Allan

January 2010

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequ...

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Micale, Lucia
Morlino, Silvia
Carbone, Annalucia
Carissimo, Annamaria
et al
Giunta, Cecilia
Rohrbach, Marianne

February 2022

PURPOSE: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Micale L.
Morlino S.
Carbone A.
Carissimo A.
Nardella G.
Fusco C.
Palumbo O.
Schirizzi A.
Russo F.
Mazzoccoli G.
Breckpot J.
De Luca C.
Ferraris A.
Giunta C.
Grammatico P.
Haanpaa M. K.
Mancano G.
Forzano G.
Cacchiarelli D.
Van Esch H.
Callewaert B.
Rohrbach M.
Castori M.

January 2022

Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...

Expanding the phenotype of TAB2 variants and literature review

Woods, E.
Marson, I.
Coci, E.
Spiller, M.
Kumar, A.
Brady, A.
Homfray, T.
Fisher, R.
Turnpenny, P.
Rankin, J.
Kanani, F.
Platzer, K.
Ververi, A.
Emmanouilidou, E.
Bourboun, N.
Giannakoulas, G.
Balasubramanian, M.

November 2022

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existi...

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Engwerda, Aafke
Leenders, Erika K. S. M.
Frentz, Barbara
Terhal, Paulien A.
Lohner, Katharina
de Vries, Bert B. A.
Dijkhuizen, Trijnie
Vos, Yvonne J.
Rinne, Tuula
van den Berg, Maarten P.
Roofthooft, Marc T. R.
Deelen, Patrick
Van Ravenswaaij-Arts, Conny M. A.
Kerstjens-Frederikse, Wilhelmina S.

November 2021

Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associa...

Expanding the phenotype of TAB2 variants and literature review.

Woods, E
Marson, I
Coci, E
Spiller, M
Kumar, A
Brady, A
Homfray, T
Fisher, R
Turnpenny, P
Rankin, J
Kanani, F
Platzer, K
Ververi, A
Emmanouilidou, E
Bourboun, N
Giannakoulas, G
Balasubramanian, M

October 2022

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existi...

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Ritelli, Marco Giuseppe
Morlino, Silvia
Giacopuzzi, Edoardo
Bernardini, Laura
Torres, Barbara
Santoro, Graziano
Ravasio, Viola
Chiarelli, Nicola
D'Angelantonio, Daniela
Novelli, Antonio
Grammatico, Paola
Colombi, Marina
Castori, Marco

January 2018

Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenita...

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

Caulfield, Thomas R.
Richter Jr., John E.
Brown, Emily E.
Mohammad, Ahmed N.
Judge, Daniel P.
Atwal, Paldeep S.

July 2018

Background: Haploinsufficiency of TAB 2 is known to cause congenital heart defects and cardiomyopa...

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Horn, Denise
Fernández-Núñez, Elisa
Gomez-Carmona, Ricardo
Rivera-Barahona, Ana
Nevado, Julian
Schwartzmann, Sarina
Ehmke, Nadja
Lapunzina, Pablo
Otaify, Ghada A.
Temtamy, Samia
Aglan, Mona
Boschann, Felix
Ruiz-Pérez, Victor L.

May 2021

[Purpose]: This study aimed to identify the genetic cause of a new multiple congenital anomalies syn...

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Granadillo, Jorge L.
Chung, Wendy K.
Hecht, Leah
Corsten-Janssen, Nicole
Wegner, Daniel
Bijvank, Sebastiaan W. A. Nij
Toler, Tomi L.
Pineda-Alvarez, Daniel E.
Douglas, Ganka
Murphy, Joshua J.
Shimony, Joshua
Shinawi, Marwan

December 2018

SMAD2 is a downstream effector in the TGF-beta signaling pathway, which is important for pattern for...

Haplo-insufficiency of TAB2 causes congenital heart defects in humans

Thienpont, Bernard
Zhang, L
Postma, A.V
Breckpot, Jeroen
Tranchevent, Léon-Charles
Van Loo, Peter
Mollgard, K
Tommerup, N
Bache, I
Tumer, Z
Van Engelen, K
Menten, B
Mortier, G
Waggoner, D
Gewillig, Marc
Moreau, Yves
Devriendt, Koenraad
Larsen, L.A

June 2010

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequ...

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S
Carbone A
Ritelli M
Fusco C
Giambra V
Nardella G
Notarangelo A
Panelli P
Mazzoccoli G
Zoppi N
Grammatico P
Wade EM
Colombi M
Castori M
Micale L.

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

Morlino, Silvia
Carbone, Annalucia
Ritelli, Marco
Fusco, Carmela
Giambra, Vincenzo
Nardella, Grazia
Notarangelo, Angelantonio
Panelli, Patrizio
Mazzoccoli, Gianluigi
Zoppi, Nicoletta
Grammatico, Paola
Wade, Emma M
Colombi, Marina
Castori, Marco
Micale, Lucia

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Thienpont, Bernard
Zhang, Litu
Postma, Alex V
Breckpot, Jeroen
Tranchevent, Leon-Charles
Van Loo, Peter
Mollgard, Kjedl
Tommerup, Niels
Bache, Iben
Tumer, Zeynep
van Engelen, Klaartje
Menten, Björn
Mortier, Geert
Waggoner, Darrel
Gewillig, Marc
Moreau, Yves
Devriendt, Koen
Larsen, Lars Allan

January 2010

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequ...

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Micale, Lucia
Morlino, Silvia
Carbone, Annalucia
Carissimo, Annamaria
et al
Giunta, Cecilia
Rohrbach, Marianne

February 2022

PURPOSE: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Micale L.
Morlino S.
Carbone A.
Carissimo A.
Nardella G.
Fusco C.
Palumbo O.
Schirizzi A.
Russo F.
Mazzoccoli G.
Breckpot J.
De Luca C.
Ferraris A.
Giunta C.
Grammatico P.
Haanpaa M. K.
Mancano G.
Forzano G.
Cacchiarelli D.
Van Esch H.
Callewaert B.
Rohrbach M.
Castori M.

January 2022

Purpose: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, mus...

Expanding the phenotype of TAB2 variants and literature review

Woods, E.
Marson, I.
Coci, E.
Spiller, M.
Kumar, A.
Brady, A.
Homfray, T.
Fisher, R.
Turnpenny, P.
Rankin, J.
Kanani, F.
Platzer, K.
Ververi, A.
Emmanouilidou, E.
Bourboun, N.
Giannakoulas, G.
Balasubramanian, M.

November 2022

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existi...

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Engwerda, Aafke
Leenders, Erika K. S. M.
Frentz, Barbara
Terhal, Paulien A.
Lohner, Katharina
de Vries, Bert B. A.
Dijkhuizen, Trijnie
Vos, Yvonne J.
Rinne, Tuula
van den Berg, Maarten P.
Roofthooft, Marc T. R.
Deelen, Patrick
Van Ravenswaaij-Arts, Conny M. A.
Kerstjens-Frederikse, Wilhelmina S.

November 2021

Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associa...

Expanding the phenotype of TAB2 variants and literature review.

Woods, E
Marson, I
Coci, E
Spiller, M
Kumar, A
Brady, A
Homfray, T
Fisher, R
Turnpenny, P
Rankin, J
Kanani, F
Platzer, K
Ververi, A
Emmanouilidou, E
Bourboun, N
Giannakoulas, G
Balasubramanian, M

October 2022

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existi...

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Ritelli, Marco Giuseppe
Morlino, Silvia
Giacopuzzi, Edoardo
Bernardini, Laura
Torres, Barbara
Santoro, Graziano
Ravasio, Viola
Chiarelli, Nicola
D'Angelantonio, Daniela
Novelli, Antonio
Grammatico, Paola
Colombi, Marina
Castori, Marco

January 2018

Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenita...

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

Caulfield, Thomas R.
Richter Jr., John E.
Brown, Emily E.
Mohammad, Ahmed N.
Judge, Daniel P.
Atwal, Paldeep S.

July 2018

Background: Haploinsufficiency of TAB 2 is known to cause congenital heart defects and cardiomyopa...

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Horn, Denise
Fernández-Núñez, Elisa
Gomez-Carmona, Ricardo
Rivera-Barahona, Ana
Nevado, Julian
Schwartzmann, Sarina
Ehmke, Nadja
Lapunzina, Pablo
Otaify, Ghada A.
Temtamy, Samia
Aglan, Mona
Boschann, Felix
Ruiz-Pérez, Victor L.

May 2021

[Purpose]: This study aimed to identify the genetic cause of a new multiple congenital anomalies syn...

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Granadillo, Jorge L.
Chung, Wendy K.
Hecht, Leah
Corsten-Janssen, Nicole
Wegner, Daniel
Bijvank, Sebastiaan W. A. Nij
Toler, Tomi L.
Pineda-Alvarez, Daniel E.
Douglas, Ganka
Murphy, Joshua J.
Shimony, Joshua
Shinawi, Marwan

December 2018

SMAD2 is a downstream effector in the TGF-beta signaling pathway, which is important for pattern for...

Haplo-insufficiency of TAB2 causes congenital heart defects in humans

Thienpont, Bernard
Zhang, L
Postma, A.V
Breckpot, Jeroen
Tranchevent, Léon-Charles
Van Loo, Peter
Mollgard, K
Tommerup, N
Bache, I
Tumer, Z
Van Engelen, K
Menten, B
Mortier, G
Waggoner, D
Gewillig, Marc
Moreau, Yves
Devriendt, Koenraad
Larsen, L.A

June 2010

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequ...

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S
Carbone A
Ritelli M
Fusco C
Giambra V
Nardella G
Notarangelo A
Panelli P
Mazzoccoli G
Zoppi N
Grammatico P
Wade EM
Colombi M
Castori M
Micale L.

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

Morlino, Silvia
Carbone, Annalucia
Ritelli, Marco
Fusco, Carmela
Giambra, Vincenzo
Nardella, Grazia
Notarangelo, Angelantonio
Panelli, Patrizio
Mazzoccoli, Gianluigi
Zoppi, Nicoletta
Grammatico, Paola
Wade, Emma M
Colombi, Marina
Castori, Marco
Micale, Lucia

January 2019

Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes throug...

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Thienpont, Bernard
Zhang, Litu
Postma, Alex V
Breckpot, Jeroen
Tranchevent, Leon-Charles
Van Loo, Peter
Mollgard, Kjedl
Tommerup, Niels
Bache, Iben
Tumer, Zeynep
van Engelen, Klaartje
Menten, Björn
Mortier, Geert
Waggoner, Darrel
Gewillig, Marc
Moreau, Yves
Devriendt, Koen
Larsen, Lars Allan

January 2010

Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequ...

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Abstract

Extracted data

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Abstract

Extracted data

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