Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only...

Based on the framework of the directional distance function, we conduct a systematic analysis on the measurement of super-efficiency in order to achieve two main objectives. Our primary purpose is developing two generalized directional measures of super-efficiency that completely resolve the crucial infeasibility issue, commonly arisen in the traditional super-efficiency measures. The secondary...

the dogleg severity is one of the most important parameters in directional drilling. improvement of these indicators actually means choosing the best conditions for the directional drilling in order to reach the target point. selection of high levels of the dogleg severity actually means minimizing well trajectory, but on the other hand, increases fatigue in drill string, increases torque and d...

Goltz syndrome / Focal Dermal Hypoplasia (FDH) is a rare syndrome resulting from developmental defects in tissues with mesodermal origin such as eye, skin, mouth, muscoloskeletal, and central nervous system. We report a 13-year-old girl with FDH who had several features of skin, eye, and mouth involvement. She also had revurrent otitis media, which has not been reported so far.

Citation: Castro-Muñiz A, Hoshikawa Y, Komiyama H, Nakayama W, Itoh T and Kyotani T (2016) Improving the Direct Electron Transfer in Monolithic Bioelectrodes Prepared by Immobilization of FDH Enzyme on Carbon-Coated Anodic Aluminum Oxide Films. Front. Mater. 3:7. doi: 10.3389/fmats.2016.00007 improving the Direct electron Transfer in Monolithic Bioelectrodes Prepared by immobilization of FDh en...

A glutathione (GSH)-dependent pathway is used for formaldehyde metabolism by a wide variety of prokaryotes and eukaryotes. In this pathway, S-hydroxymethylglutathione, produced by the reaction of formaldehyde with the thiolate moiety of glutathione, is the substrate for a GSH-dependent formaldehyde dehydrogenase (GSH-FDH). While expression of GSH-FDH often increases in the presence of metabolic...

Identifying microbes responsible for particular environmental functions is challenging, given that most environments contain an uncultivated microbial diversity. Here we combined approaches to identify bacteria expressing genes relevant to catabolite flow and to locate these genes within their environment, in this case the gut of a "lower," wood-feeding termite. First, environmental transcripto...

Although the plant epidermis serves primarily a protective role, during plant development some epidermal cells specialize, becoming competent to interact not only with pollen but also with other epidermal cells. In the former case, these interactions mediate recognition, germination, and pollen growth responses and, in the latter case, result in interorgan fusions which, most commonly, alter fl...