Literature DB >> 31164435

T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease.

Arnaud Maurac1, Émilie Lardenois2, Mélanie Eyries3, Maria Rosa Ghigna4, Isabelle Petit5, David Montani6, Anne Guillaumot1, Brice Caput7, François Chabot1,8, Ari Chaouat9,8.   

Abstract

Entities:  

Year:  2019        PMID： 31164435     DOI： 10.1183/13993003.00388-2019

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  5 in total

1.  Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

Authors:  Esra Yıldız Bölükbaşı; Justyna A Karolak; Przemyslaw Szafranski; Tomasz Gambin; Omer Murik; David A Zeevi; Gheona Altarescu; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2022-01-25       Impact factor: 2.802

2.  Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

Authors:  Ignacio Hernandez-Gonzalez; Jair Tenorio; Julian Palomino-Doza; Amaya Martinez Meñaca; Rafael Morales Ruiz; Mauro Lago-Docampo; María Valverde Gomez; Javier Gomez Roman; Ana Belén Enguita Valls; Carmen Perez-Olivares; Diana Valverde; Joan Gil Carbonell; Elvira Garrido-Lestache Rodríguez-Monte; Maria Jesus Del Cerro; Pablo Lapunzina; Pilar Escribano-Subias
Journal:  PLoS One       Date:  2020-04-29       Impact factor: 3.240

3.  HIMA2: high-dimensional mediation analysis and its application in epigenome-wide DNA methylation data.

Authors:  Chamila Perera; Haixiang Zhang; Yinan Zheng; Lifang Hou; Annie Qu; Cheng Zheng; Ke Xie; Lei Liu
Journal:  BMC Bioinformatics       Date:  2022-07-25       Impact factor: 3.307

4.  A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Authors:  Justyna A Karolak; Tomasz Gambin; Engela M Honey; Tomas Slavik; Edwina Popek; Paweł Stankiewicz
Journal:  BMC Med Genomics       Date:  2020-03-06       Impact factor: 3.063

Review 5.  TBX4 variants and pulmonary diseases: getting out of the 'Box'.

Authors:  Meindina G Haarman; Wilhelmina S Kerstjens-Frederikse; Rolf M F Berger
Journal:  Curr Opin Pulm Med       Date:  2020-05       Impact factor: 2.868
  5 in total

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