Literature DB >> 15710732

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

W Heinritz, A Moschik, A Kujat, S Spranger, H Heilbronner, S Demuth, A Bier, M Tihanyi, S Mundlos, C Gruenauer-Kloevekorn, U G Froster.   

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Year:  2005        PMID： 15710732      PMCID： PMC1768780          DOI： 10.1136/hrt.2004.036855

Source DB:  PubMed          Journal:  Heart        ISSN： 1355-6037            Impact factor:   5.994


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  5 in total

1.  The mutation spectrum in Holt-Oram syndrome.

Authors:  S J Cross; Y H Ching; Q Y Li; L Armstrong-Buisseret; S Spranger; S Lyonnet; D Bonnet; M Penttinen; P Jonveaux; B Leheup; G Mortier; C Van Ravenswaaij; C A Gardiner
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

2.  Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

Authors:  Claudia Gruenauer-Kloevekorn; Ursula G Froster
Journal:  Ann Genet       Date:  2003 Jan-Mar

3.  Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Authors:  Q Y Li; R A Newbury-Ecob; J A Terrett; D I Wilson; A R Curtis; C H Yi; T Gebuhr; P J Bullen; S C Robson; T Strachan; D Bonnet; S Lyonnet; I D Young; J A Raeburn; A J Buckler; D J Law; J D Brook
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

4.  Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

Authors:  C T Basson; D R Bachinsky; R C Lin; T Levi; J A Elkins; J Soults; D Grayzel; E Kroumpouzou; T A Traill; J Leblanc-Straceski; B Renault; R Kucherlapati; J G Seidman; C E Seidman
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

5.  Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Authors:  Anna-Marie E Brassington; Sandy S Sung; Reha M Toydemir; Trung Le; Amy D Roeder; Ann E Rutherford; Frank G Whitby; Lynn B Jorde; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2003-06-03       Impact factor: 11.025
  5 in total
  14 in total

1.  Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Authors:  Clémence Vanlerberghe; Anne-Sophie Jourdain; Jamal Ghoumid; Frédéric Frenois; Aurélie Mezel; Guy Vaksmann; Bruno Lenne; Bruno Delobel; Nicole Porchet; Valérie Cormier-Daire; Thomas Smol; Fabienne Escande; Sylvie Manouvrier-Hanu; Florence Petit
Journal:  Eur J Hum Genet       Date:  2018-12-14       Impact factor: 4.246

2.  Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Authors:  Débora Varela; Tatiana Varela; Natércia Conceição; Ângela Ferreira; Nuno Marques; Ana Paula Silva; Pedro Azevedo; Salomé Pereira; Ana Camacho; Ilídio de Jesus; M Leonor Cancela
Journal:  Mol Genet Genomics       Date:  2021-04-17       Impact factor: 3.291

3.  miR-10a and miR-10b target the 3'-untranslated region of TBX5 to repress its expression.

Authors:  Feng Wang; Xue-Yan Yang; Jian-Yuan Zhao; Li-Wei Yu; Ping Zhang; Wen-Yuan Duan; Mei Chong; Yong-Hao Gui
Journal:  Pediatr Cardiol       Date:  2014-04-09       Impact factor: 1.655

Review 4.  TBX5: A Key Regulator of Heart Development.

Authors:  J D Steimle; I P Moskowitz
Journal:  Curr Top Dev Biol       Date:  2016-09-28       Impact factor: 4.897

5.  TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.

Authors:  Ji-Fang Ma; Fan Yang; Saagar N Mahida; Ling Zhao; Xiaomin Chen; Michael L Zhang; Zhijun Sun; Yan Yao; Yi-Xin Zhang; Gu-Yan Zheng; Jie Dong; Ming-Jun Feng; Rui Zhang; Jian Sun; Shuo Li; Qun-Shan Wang; Huiqing Cao; Emelia J Benjamin; Patrick T Ellinor; Yi-Gang Li; Xiao-Li Tian
Journal:  Cardiovasc Res       Date:  2016-01-13       Impact factor: 10.787

6.  Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.

Authors:  Aditya Sen; Christian Gadomski; Jürgen Balles; Yasmin Abassi; Christian Dorner; Gert O Pflugfelder
Journal:  Mol Genet Genomics       Date:  2009-12-24       Impact factor: 3.291

7.  Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

Authors:  Marianna P R Porto; Naja Vergani; Antonio Carlos C Carvalho; Mirlene C S P Cernach; Decio Brunoni; Ana Beatriz A Perez
Journal:  Genet Mol Biol       Date:  2010-06-01       Impact factor: 1.771

8.  TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Authors:  Bilal Azab; Dunia Aburizeg; Weizhen Ji; Lauren Jeffries; Nooredeen Jamal Isbeih; Amal Saleh Al-Akily; Hashim Mohammad; Yousef Abu Osba; Mohammad A Shahin; Zain Dardas; Ma'mon M Hatmal; Iyad Al-Ammouri; Saquib Lakhani
Journal:  Mol Med Rep       Date:  2022-05-06       Impact factor: 3.423

Review 9.  Molecular genetics of congenital atrial septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Felix Berger; Cemil Ozcelik
Journal:  Clin Res Cardiol       Date:  2009-12-11       Impact factor: 5.460

10.  Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Authors:  Johann Böhm; Wolfram Heinritz; Alexander Craig; Mihailo Vujic; Britt-Marie Ekman-Joelsson; Jürgen Kohlhase; Ursula Froster
Journal:  BMC Med Genet       Date:  2008-10-01       Impact factor: 2.103
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