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A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly
(ELSEVIER IRELAND LTD, 2008)
Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, ...
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
(Sociedade Brasileira de Genética, 2010-01-01)
The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. ...
Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism
(Polish Acad Sciences, Inst Plant GeneticsPoznanPolónia, 2010)
Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
(OXFORD UNIV PRESSOXFORD, 2012)
Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, ...
DNA demethylation agent 5azadC downregulates HPV16 E6 expression in cervical cancer cell lines independently of TBX2 expression
HPV16 is the most carcinogenic human papillomavirus and causes >50% of cervical cancers, the majority of anal cancers and 30% of oropharyngeal squamous cell carcinomas. HPV carcinogenesis relies on the continuous expression ...
TBX21-1993T/C (rs4794067) polymorphism is associated with increased risk of chronic periodontitis and increased T-bet expression in periodontal lesions, but does not significantly impact the IFN-g transcriptional level or the pattern of periodontophatic bacterial infection
(Taylor & Francis, 2015)
Th1-polarized host response, mediated by IFN-gamma, has been associated with increased severity of periodontal disease as well as control of periodontal infection. The functional polymorphism TBX21-1993T/C (rs4794067) ...
Expresión génica de TBX21, GATA3, RORC y AHR en artritis psoriásica: asociación con citocinas relacionadas a los perfiles Th1, Th2, Th17 y Th22
(Biblioteca Digital wdg.biblioUniversidad de Guadalajara, 2019-04-02)
Introducción: la artritis psoriásica (AP) es una enfermedad autoinmune, clínicamente heterogénea que se caracteriza por manifestaciones epidérmicas hiperproliferativas con descamación, asociadas con artritis periférica, ...
Single-cell expression profiling reveals a dynamic state of cardiac precursor cells in the early mouse embryo
(Public Library Science, 2015)
In the early vertebrate embryo, cardiac progenitor/precursor cells (CPs) give rise to cardiac structures. Better understanding their biological character is critical to understand the heart development and to apply CPs for ...
TBX21-1993T/C polymorphism association with Th1 and Th17 response at periapex and with periapical lesions development risk
(John Wiley and Sons Inc., 2019)
©2018 Society for Leukocyte BiologyTBX21-1993T/C (rs4794067) polymorphism increases the transcriptional activity of the Tbx21, essential for interferon gamma (IFNg) transcription, but its functional impact on development ...