1.
Expression of Epithelial-Mesenchymal Transition Regulating Transcription Factors in Head and Neck Squamous Cell Carcinomas.
Göppel, J, Möckelmann, N, Münscher, A, Sauter, G, Schumacher, U
Anticancer research. 2017;(10):5435-5440
Abstract
BACKGROUND/AIM: The transcription factors Twist, Snail, Slug, ZEB1 and ZEB2 regulate epithelial-mesenchymal transition (EMT) and their expression has been associated with a poor prognosis in several cancer entities. The aim of this analysis was to investigate in parallel the expression of all of these transcription factors in head and neck squamous cell carcinomas (HNSCCs) in order to gain insight into their possible co-expression. MATERIALS AND METHODS Tumor tissue samples were immunohistochemically stained using antibodies against these transcription factors. The staining intensity and cellular distribution of the immunoreactivity was recorded. RESULTS In general, transcription factor immunoreactivity was noted in the nucleus of both cancer and stromal cells. The highest immunoreactivity was observed for Twist. Snail, Slug, ZEB1 and ZEB2 showed a much lesser immunoreactivity in cancer cells and they were expressed independently from each other. CONCLUSION Twist is the major transcription factor active in HNSCC; the other transcription factors of EMT seem to be of less importance in this tumor entity.
2.
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
Zhang, Q, Mo, ZH, Dong, CS, Yang, F, Xie, YH, Jin, P
Journal of endocrinological investigation. 2016;(6):679-85
Abstract
INTRODUCTION Osteopoikilosis is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis. METHODS We investigated LEMD3 gene in a three-generation family from China, with six patients affected with osteopoikilosis. Peripheral blood samples were collected from family members and 100 healthy controls. All exons of the LEMD3 gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. RESULTS A novel heterozygous c.2612_2613insA (p.Y871X) mutation in exon 13 of LEMD3 was identified, which resulted in a frame shift predicted to generate a premature stop codon at amino acid position 871. The mutation co-segregates with the osteopoikilosis phenotype and was not found in 100 ethnically matched controls. CONCLUSION We identified a new mutation in LEMD3 gene, accounting for the familial case of osteopoikilosis. In addition we also review the clinical manifestation, diagnosis and treatment of osteopoikilosis.
3.
Hydrophobins: multipurpose proteins.
Wösten, HA
Annual review of microbiology. 2001;:625-46
Abstract
Class I and class II hydrophobins are small secreted fungal proteins that play a role in a broad range of processes in the growth and development of filamentous fungi. For instance, they are involved in the formation of aerial structures and in the attachment of hyphae to hydrophobic surfaces. The mechanisms by which hydrophobins fulfill these functions are based on their property to self-assemble at hydrophilic-hydrophobic interfaces into a 10 nm-thin highly amphipathic film. Complementation studies have shown that class I hydrophobins belong to a closely related group of morphogenetic proteins, but that they have evolved to function at specific interfaces. Recent evidence indicates that hydrophobins do not only function by self-assembly. Monomeric hydrophobin has been implicated in cell-wall assembly, but the underlying mechanism is not yet clear. In addition, hydrophobin monomers could act as toxins and elicitors.