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...

A 29-year-old multipara presented at the University Hospital, Kuala Lumpur at 26 weeks gestation. She has had two normal deliveries at this hospital, a girl in 1977 and a boy in 1978. Both children are normal and healthy. In this third pregnancy uterine size was larger than dates and hydramnios was suspected. Sonography confirmed the hydramnios and showed a single foetus with hydrocephalus and ...

The sharing of C-band between microwave terrestrial and satellite communication systems invariably introduces interference from one system into the other. Such co-channel interference becomes even more important in satellite receive stations with smaller antennas and must be minimized to achieve system performance objectives. In this paper, co-channel interference due to two TD2 (FDM/FM) carrie...

The thyroglossal Duct (TD) cyst results from a failure in obliterating the embryogenic duct produced during thyroid migration. A cyst may develop from the secretory residual epithelium. Ectopic thyroid tissue neoplasias are rare, and even rarer when associated with the TD. It has been reported that over 7% of adults have some remains of the TD1 and over 62% of them may have some ectopic thyroid...

2 Anthracene and Tetracene on Au(111) 3 Justus Krüger,† Frank Eisenhut,† Thomas Lehmann,† Jose ́ M. Alonso,‡ Jörg Meyer,† Dmitry Skidin,† 4 Robin Ohmann,†,# Dmitry A. Ryndyk,† Dolores Peŕez,‡ Enrique Guitiań,‡ Diego Peña,‡ 5 Francesca Moresco,*,† and Gianaurelio Cuniberti†,§ 6 †Institute for Materials Science, Max Bergmann Center of Biomaterials, and Center for Advancing Electronics Dresden, TU ...

P latyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterised by severe platyspondyly and limb shortening. The most common form of PLSD is thanatophoric dysplasia (TD), which has been divided into two types, TD1 (MIM 187600) and TD2 (MIM 187610). Three other types of PLSD, or TD variants have been distinguished from TD, the San Diego (PLSD-SD; M...

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...