Felicitas Oberndorfer

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

The selective pattern of muscle involvement is a key feature of muscular dystrophies. Dysferlinopathy is a good model for studying this process since it shows variable muscle involvement that can be highly selective even in individual patients. The transcriptomes of proximal and distal muscles from wildtype C57BL/10 and dysferlin deficient C57BL/10.SJL-Dysf mice at a prepathological stage were assessed using the Affymetrix oligonucleotide-microarray system. We detected significant variation in gene expression between proximal and distal muscle in wildtype mice. Dysferlin defiency, even in the absence of pathological changes, altered this proximal distal difference but with little specific overlap with previous microarray analyses of dysferlinopathy. In conclusion, proximal and distal muscle groups show distinct patterns of gene expression and respond differently to dysferlin deficiency. This has implications for the selection of muscles for future microarray analyses, and also offers new routes for investigating the selectivity of muscle involvement in muscular dystrophies.

Mutation in the Scyl1 gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration

Here, we show that the murine neurodegenerative disease mdf (autosomal recessive mouse mutant ‘muscle deficient’) is caused by a loss‐of‐function mutation in Scyl1, disrupting the expression of N‐terminal kinase‐like protein, an evolutionarily conserved putative component of the nucleocytoplasmic transport machinery. Scyl1 is prominently expressed in neurons, and enriched at central nervous system synapses and neuromuscular junctions. We show that the pathology of mdf comprises cerebellar atrophy, Purkinje cell loss and optic nerve atrophy, and therefore defines a new animal model for neurodegenerative diseases with cerebellar involvement in humans.

Expression of hypoxia‐associated proteins in sporadic medullary thyroid cancer is associated with desmoplastic stroma reaction and lymph node metastasis and may indicate somatic mutations in the VHL gene

Medullary thyroid carcinomas (MTCs) are mostly aggressive but slowly growing malignant tumours that metastasize early to loco‐regional lymph nodes. Desmoplastic stroma reaction is a strong risk factor associated with lymph node metastases. We evaluated immunohistochemically the expression of two hypoxia‐associated proteins, carbonic anhydrase IX (CAIX) and hypoxia‐induced factor 1α (HIF1α), and ki‐67, intercellular matrix adhesion molecule E‐cadherin and the stroma remodelling marker tenascin C in a series of 100 sporadic MTCs and corresponding lymph node metastases, if present. Moderate to strong expression of CAIX was seen in 53 cases, and of HIF1α in 51 cases, showing a strong correlation (p < 0.001; Spearmans coefficient of correlation, 0.59). Expression correlated with the degree of desmoplasia (

1324PTUMOR-INFILTRATING LYMPHOCYTES (TILS) AND PD-L1 EXPRESSION IN NON- SMALL CELL LUNG CANCER BRAIN METASTASES (BM) AND MATCHED PRIMARY TUMORS (PT)

p_{\rm{CAIX}} = 0.001

Significance of p16 expression in head and neck cancer patients treated with radiotherapy and cetuximab

and

Does weight force application to the lower torso have an influence on inferior vena cava and cardiovascular parameters

p_{{\rm{HIF1}}\alpha} = 0.001

Impact of Sonic Hedgehog Pathway Expression on Outcome in HPV Negative Head and Neck Carcinoma Patients after Surgery and Adjuvant Radiotherapy.

), with tenascin C expression (

Rhinovirus induces an anabolic reprogramming in host cell metabolism essential for viral replication

p_{\rm{CAIX}} = 0.001

Intrathoracic solitary fibrous tumor – an international multicenter study on clinical outcome and novel circulating biomarkers

,

A Case of Pancoast Tumor with Unusual Presentation

p_{{\rm{HIF1}}\alpha} = 0.038