Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

AJ Coffey, RA Brooksbank, O Brandau, T Oohashi… - Nature …, 1998 - nature.com
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme
sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by …

Tenomodulin is necessary for tenocyte proliferation and tendon maturation

…, EB Hunziker, R Fässler, O Brandau - Molecular and cellular …, 2005 - Taylor & Francis
Tenomodulin (Tnmd) is a member of a new family of type II transmembrane glycoproteins. It
is predominantly expressed in tendons, ligaments, and eyes, whereas the only other family …

[HTML][HTML] Clinical exome sequencing: results from 2819 samples reflecting 1000 families

…, JM Garcia-Aznar, M Werber, O Brandau… - European Journal of …, 2017 - nature.com
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz… - Nature …, 2000 - nature.com
… A following stretch of 63 amino acids contains 3 predicted N- and 6 predicted O-… Pusch,
Christina Zeitz and Oliver Brandau: These authors contributed equally to this … Oliver Brandau

ESAM supports neutrophil extravasation, activation of Rho, and VEGF-induced vascular permeability

…, S Volkery, H Li, I Nasdala, O Brandau… - The Journal of …, 2006 - rupress.org
Endothelial cell–selective adhesion molecule (ESAM) is specifically expressed at
endothelial tight junctions and on platelets. To test whether ESAM is involved in leukocyte …

A new gene involved in X-linked mental retardation identified by analysis of an X; 2 balanced translocation

…, V Portes, A Cardona, S Frints, A Meindl, O Brandau… - Nature …, 2000 - nature.com
X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely
to be highly heterogeneous 1, 2, 3. They can be categorized into syndromic (MRXS) and …

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

…, S Hennig, A Böddrich, B Lorenz, O Brandau… - Genome …, 1997 - genome.cshlp.org
X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary
rickets. Recently we have cloned thePEX gene and shown it to be mutated and deleted in …

[HTML][HTML] X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

I Bader, O Brandau, H Achatz… - … & visual science, 2003 - iovs.arvojournals.org
purpose. A comprehensive screening was conducted for RP2 and retinitis pigmentosa GTPase
regulator (RPGR) gene mutations including RPGR exon ORF15 in 58 index patients. The …

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

E Holinski-Feder, M Weiss, O Brandau, KB Jedele… - …, 1998 - publications.aap.org
Objectives. To determine the utility of single-stranded conformation polymorphism (SSCP)
analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we investigated 56 …

A novel gene, tendin, is strongly expressed in tendons and ligaments and shows high homology with chondromodulin‐I

O Brandau, A Meindl, R Fässler… - … dynamics: an official …, 2001 - Wiley Online Library
Abstract Chondromodulin‐I (CHM1) was identified recently as an angiogenesis inhibitor in
cartilage. It is highly expressed in the avascular zones of cartilage but is absent in the late …