Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blo...

TRPS1, the gene mutated in human "Tricho-Rhino-Phalangeal syndrome," encodes a multi zinc-finger nuclear regulator of chondrocyte proliferation and differentiation. Here, we have identified a new function of Trps1 in controlling mitotic progression in chondrocytes. Loss of Trps1 in mice leads to an increased proportion of cells arrested in mitosis and, subsequently, to chromosome segregation de...

TRPS1 is a GATA-type transcription factor that is closely related to human tricho-rhino-phalangeal syndrome (TRPS) types I and III, variants of an autosomal dominant skeletal disorder. During embryonic development, Trps1 represses Sox9 expression and regulates Wnt signaling pathways that determine the number of hair follicles and their normal morphogenesis. In the growth plate, Trps1 regulates ...

Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (...

Diazotrophic inputs by Trichodesmium have been shown to support production in tropical and subtropical marine environments, but the importance of Trichodesmium in the Gulf of Mexico has not been widely investigated. Here, we use stable carbon (δ13C) and nitrogen (δ15N) isotopes to determine whether diazotrophy impacts the isotope baselines of pelagic food webs in the northern Gulf of Mexico. Ph...

A 58-year-old man presented with retrosternal pain 30 months after a surgical operation for reflux esophagitis in relation to Barrett’s esophagus. Gastroscopy revealed an ulcer of the inferior part of the esophagus, which on biopsy proved to be an adenocarcinoma. Additional surgery was performed through the abdomen and through the thorax via the sixth intercostal space. Resection of the lower p...