These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

407 related articles for article (PubMed ID: 28057264)

  • 1. TBX5: A Key Regulator of Heart Development.
    Steimle JD; Moskowitz IP
    Curr Top Dev Biol; 2017; 122():195-221. PubMed ID: 28057264
    [TBL] [Abstract][Full Text] [Related]  

  • 2. KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
    Darwich R; Li W; Yamak A; Komati H; Andelfinger G; Sun K; Nemer M
    Hum Mol Genet; 2017 Mar; 26(5):942-954. PubMed ID: 28164238
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
    Jhang WK; Lee BH; Kim GH; Lee JO; Yoo HW
    Cardiol Young; 2015 Aug; 25(6):1093-8. PubMed ID: 25216260
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.
    Kimura M; Kikuchi A; Ichinoi N; Kure S
    Pediatr Cardiol; 2015 Jan; 36(1):244-7. PubMed ID: 25274398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.
    Smemo S; Campos LC; Moskowitz IP; Krieger JE; Pereira AC; Nobrega MA
    Hum Mol Genet; 2012 Jul; 21(14):3255-63. PubMed ID: 22543974
    [TBL] [Abstract][Full Text] [Related]  

  • 6. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
    Patel C; Silcock L; McMullan D; Brueton L; Cox H
    Eur J Hum Genet; 2012 Aug; 20(8):863-9. PubMed ID: 22333898
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
    Patterson J; Coats C; McGowan R
    Am J Med Genet A; 2020 Jul; 182(7):1725-1734. PubMed ID: 32449309
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
    van Ouwerkerk AF; Bosada FM; van Duijvenboden K; Houweling AC; Scholman KT; Wakker V; Allaart CP; Uhm JS; Mathijssen IB; Baartscheer T; Postma AV; Barnett P; Verkerk AO; Boukens BJ; Christoffels VM
    Circulation; 2022 Feb; 145(8):606-619. PubMed ID: 35113653
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
    Varela D; Varela T; Conceição N; Ferreira Â; Marques N; Silva AP; Azevedo P; Pereira S; Camacho A; de Jesus I; Cancela ML
    Mol Genet Genomics; 2021 Jul; 296(4):809-821. PubMed ID: 33866394
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.
    Cenni C; Andres S; Hempel M; Strom TM; Thomas E; Davies A; Timoney N; Frigiola A; Logan M; Holder-Espinasse M
    Eur J Med Genet; 2021 Jul; 64(7):104213. PubMed ID: 33930582
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
    Baban A; Pitto L; Pulignani S; Cresci M; Mariani L; Gambacciani C; Digilio MC; Pongiglione G; Albanese S
    Am J Med Genet A; 2014 Jun; 164A(6):1419-24. PubMed ID: 24664498
    [TBL] [Abstract][Full Text] [Related]  

  • 12. TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
    Guo DF; Li RG; Yuan F; Shi HY; Hou XM; Qu XK; Xu YJ; Zhang M; Liu X; Jiang JQ; Yang YQ; Qiu XB
    Mol Med Rep; 2016 May; 13(5):4349-56. PubMed ID: 27035640
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
    Al-Qattan MM; Abou Al-Shaar H
    Saudi Med J; 2015 Aug; 36(8):980-2. PubMed ID: 26219450
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
    Al-Qattan MM; Abou Al-Shaar H
    Gene; 2015 Apr; 560(2):129-36. PubMed ID: 25680289
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.
    Chiavacci E; D'Aurizio R; Guzzolino E; Russo F; Baumgart M; Groth M; Mariani L; D'Onofrio M; Arisi I; Pellegrini M; Cellerino A; Cremisi F; Pitto L
    Sci Rep; 2015 Dec; 5():18240. PubMed ID: 26657204
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.
    Møller Nielsen AK; Dehn AM; Hjortdal V; Larsen LA
    Eur J Med Genet; 2024 Apr; 68():104920. PubMed ID: 38336121
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tbx5 inhibits hedgehog signaling in determination of digit identity.
    Xu H; Xiang M; Qin Y; Cheng H; Chen D; Fu Q; Zhang KK; Xie L
    Hum Mol Genet; 2020 Jun; 29(9):1405-1416. PubMed ID: 31373354
    [TBL] [Abstract][Full Text] [Related]  

  • 18. T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.
    De Bono C; Thellier C; Bertrand N; Sturny R; Jullian E; Cortes C; Stefanovic S; Zaffran S; Théveniau-Ruissy M; Kelly RG
    Hum Mol Genet; 2018 Nov; 27(21):3747-3760. PubMed ID: 30016433
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.
    Miyao N; Hirono K; Hata Y; Yoshimura N; Ichida F
    Pediatr Int; 2019 Jun; 61(6):607-609. PubMed ID: 31215120
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
    Yamak A; Georges RO; Sheikh-Hassani M; Morin M; Komati H; Nemer M
    J Biol Chem; 2015 Mar; 290(11):6844-56. PubMed ID: 25623069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.