Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1).

miRNA proxy approach reveals hidden functions of glycosylation.

Glycosylation, the most abundant posttranslational modification, holds an unprecedented capacity for altering biological function. Our ability to harness glycosylation as a means to control biological systems is hampered by our inability to pinpoint the specific glycans and corresponding biosynthetic enzymes underlying a biological process. Herein we identify glycosylation enzymes acting as regulatory elements within a pathway using microRNA (miRNA) as a proxy.

Mapping posttranscriptional regulation of the human glycome uncovers microRNA defining the glycocode.

Cell surface glycans form a critical interface with the biological milieu, informing diverse processes from the inflammatory cascade to cellular migration. Assembly of discrete carbohydrate structures requires the coordinated activity of a repertoire of proteins, including glycosyltransferases and glycosidases. Little is known about the regulatory networks controlling this complex biosynthetic process.

Spiroconjugated intramolecular charge-transfer emission in non-typical spiroconjugated molecules: the effect of molecular structure upon the excited-state configuration.

A set of terfluorenes and terfluorene-like molecules with different pendant substitutions or side groups were designed and synthesized, their photophysical properties and the excited-state geometries were studied. Dual fluorescence emissions were observed in compounds with rigid pendant groups bearing electron-donating N atoms. According to our earlier studies, in this set of terfluorenes, the blue emission is from the local π-π* transition, while the long-wavelength emission is attributed to a spiroconjugation-like through-space charge-transfer process.

New intramolecular through-space charge transfer emission: tunable dual fluorescence of terfluorenes.

We have synthesized a series of new terfluorene derivatives, and investigated their novel fluorescence emission behaviors. We have demonstrated a new intramolecular through-space charge transfer emission experimentally and theoretically. This is the first report on spiroconjugation-like caused fluorescence emission, which could be tuned by the electron nature of pendent groups without changing their absorption.

Bent ladder-type hexaphenylene with carbazole core and spiro linkage as stable and efficient blue emitter.

A bent ladder-type hexaphenylene with a carbazole core and spiro-linkage is designed and synthesized by using the ortho-linked spirobifluorene. The design eliminates the possibility of forming a positional isomer. As a blue-emitter, the BLHPC shows good thermal and color stability.

Novel oligo-9,9'-spirobifluorenes through ortho-linkage as full hydrocarbon host for highly efficient phosphorescent OLEDs.

4-Bromo-9,9'-spirobifluorene is facilely synthesized, and from this precursor, two ortho-linked oligo-9,9'-spirobifluorenes, 44BSF and 24TSF, are constructed. Devices with 24TSF as the full-hydrocarbon host material and Ir(ppy)(3) or (ppq)(2)Ir(acac) as the triplet emitter show maximum external quantum efficiencies of 12.6 and 10.

[Surgical treatment of micromandibular deformity associated with obstructive sleep apnea syndrome].

Objective: To study the effects of jaw advancement in treating micromandibular deformity associated with obstructive sleep apnea syndrome (OSAS) by ramus osteotomy and genioplasty.

Methods: From April 1998 to February 2002, 12 patients with micromandibular deformity associated with OSAS (aged 14-36 years, 7 females and 5 males) were treated. Invert "L" shape ramus osteotomy and inverted replantation of posterior segment of ramus were performed to reconstruct the TMJ with the jaw advancement and genioplasty at the same time in 7 cases; mandibular angle osteotomy, bone grafts and genioplasty in 3 cases; and the jaw advancement by ramus sagittal osteotomy and genioplasty in 2 cases of the first branchial arch syndrome.