HLX1 gene variants influence the development of childhood asthma.

Background: Major transcription factors controlling T(H)1 and T(H)2 development, such as T-box transcription factor and GATA3, might be centrally involved in asthma and atopic diseases. Only recently, the homeobox transcription factor H.20-like homeobox 1 (HLX1), interacting closely with T-box transcription factor, has been identified as an important regulator of T(H)1 differentiation and suppressor of T(H)2 commitment.

High frequency of TGF-beta-receptor-II mutations in microdissected tissue samples from laryngeal squamous cell carcinomas.

In this study we analyze 105 paraformaldehyde-fixed and paraffin-embedded tumor samples from 12 patients with invasive squamous cell carcinoma of the larynx for the presence of gene mutations of the complete TGF-beta-receptor-II (TBR-II) gene. This study was conducted on tissue samples following separation of tumor cell groups from adjacent stroma cell compartments by laser microdissection, resulting in pure tumor cell complexes of approximately 50 to 500 cells. We detected 35 different mutations in 5 of the 12 patients analyzed but none in numerous samples of the normal peritumoral stroma or in normal epithelium.

Molecular analysis of TGF-(beta)s and their receptors in human keratinocyte cell lines of different biological behaviour.

We investigated three clonally related human keratinocyte cell lines of different biological behaviour, HaCaT (non-tumorigenic), A5 (benign, tumorigenic) and II-4RT (malignant, tumorigenic), with regard to the expression of TGF-beta-isoforms -1, -2 and -3 and that of the TGF-beta-cell-receptors TBR-I, -II and -III. In addition, we amplified and sequenced the genome of TBR-II which is known to be a target for mutations in several types of malignant tumors including squamous cell carcinomas. In all three cell lines, TGF-beta1 and -beta3 were present only in very low amounts.