The t(4;14) translocation occurs frequently in multiple myeloma (MM) and results in the simultaneous dysregulated expression of 2 potential oncogenes, FGFR3 (fibroblast growth factor receptor 3) from der(14) and multiple myeloma SET domain protein/Wolf-Hirschhorn syndrome candidate gene 1 from der(4). It is now shown that myeloma cells carrying a t(4;14) translocation express a functional FGFR3...

Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia. In mouse models of achondroplasia, recent studies have implicated the ERK MAPK pathway, a pathway activated by FGFR3, in creating reduced bone growth. Our recent studies have indicated that increased Fgfr3 and ERK MAPK signaling in chondrocytes also causes premature synchondr...

Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively. Currently, there are few effective treatments for ACH. For the neonatal lethality of TD patients, no practical effective therapies are available. We here showed that systemi...

We report the first detection of the 6.2μm and 7.7μm infrared ‘PAH’ emission features in the spectrum of a high redshift QSO, from the Spitzer-IRS spectrum of the Cloverleaf lensed QSO (H1413+117, z∼2.56). The ratio of PAH features and rest frame far-infrared emission is the same as in lower luminosity star forming ultraluminous infrared galaxies and in local PG QSOs, supporting Max-Planck-Inst...

Autism spectrum disorder (ASD) is characterized by atypical brain network organization, but findings have been inconsistent. While methodological and maturational factors have been considered, the network specificity of connectivity abnormalities remains incompletely understood. We investigated intrinsic functional connectivity (iFC) for four "core" functional networks-default-mode (DMN), salie...

Non-invasive prenatal diagnosis (NIPD) holds great promise to increase the options for women seeking prenatal testing, as it combines the benefits of earlier sampling in pregnancy with absence of procedure-related risk to the fetus. But all new procedures have costs and, in an article published in Prenatal Diagnosis last year, Verhoef et al. undertook a health economic evaluation of NIPD in the...