Abnormal function of /p.R957P mutant in congenital cataract.

Aim: To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.

Methods: A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited. Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.

A recognition survey of granular corneal dystrophy type 2 genetic detection in China.

Aim: To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2 (GCD) by a questionnaire conducted among citizens in five cities in China.

Methods: The data were collected by questionnaire, and analyzed by Chi-square test and one-tailed test in IBM SPSS statistics.

Results: Based on the survey data on the awareness of GCD genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China, the vast majority (84.

A recurrent G367R mutation in associated with juvenile open angle glaucoma in a large Chinese family.

Aim: To identify the mutations of , , and in a large Chinese family affected by juvenile open angle glaucoma (JOAG).

Methods: Of 114 members of one family were recruited in this study. Blood samples from twelve members of this pedigree were collected for further research.

Overexpression of AQP5 Was Detected in Axillary Sweat Glands of Primary Focal Hyperhidrosis Patients.

Background: The expression of aquaporin 5 (AQP5) in human axillary sweat glands has never been studied so far.

Objective: To detect the expression of AQP5 in axillary sweat glands of patients with primary focal hyperhidrosis (PFH) relative to control subjects.

Methods: The morphological characteristics and the number of sweat coils in axillary sweat glands were compared between two groups by using transmission electron microscopy.

Efficient removal of uranium from aqueous solution by zero-valent iron nanoparticle and its graphene composite.

Zero-valent iron nanoparticle (ZVI-np) and its graphene composites were prepared and applied in the removal of uranium under anoxic conditions. It was found that solutions containing 24 ppm U(VI) could be completely cleaned up by ZVI-nps, regardless of the presence of NaHCO3, humic acid, mimic groundwater constituents or the change of solution pH from 5 to 9, manifesting the promising potential of this reactive material in permeable reactive barrier (PRB) to remediate uranium-contaminated groundwater. In the measurement of maximum sorption capacity, removal efficiency of uranium kept at 100% until C0(U) = 643 ppm, and the saturation sorption of 8173 mg U/g ZVI-nps was achieved at C0(U) = 714 ppm.

Formation of N-heterocyclic diphosphine ligands from Ag(I)-assisted condensation reactions between bdppeda and formaldehyde and their binuclear silver(I) complexes.

The reaction of [Ag(MeCN)(4)]ClO(4) with N,N,N',N'-tetra(diphenylphosphanylmethyl)ethylenediamine (dppeda) in CH(2)Cl(2)/MeOH afforded an unexpected cationic binuclear complex [Ag(2)(L(1))(2)(η,η-μ-ClO(4))(2)](ClO(4))(2) (L(1) = N,N'-bis(diphenylphosphanylmethyl)-3H-4,5-dihydroimidazole-1-ium) (1). Compound 1 was also prepared in high yield from reactions of [Ag(MeCN)(4)]ClO(4) with N,N'-bis(diphenylphosphanylmethyl)ethylenediamine (bdppeda) in the presence of formaldehyde (HCHO) or formic acid (HCOOH). Analogous reactions of AgCl with bdppeda and HCHO resulted in the formation a neutral binuclear complex [Ag(2)(L(2))(2)(μ-Cl)(2)] (L(2) = N,N-bis(diphenylphosphanylmethyl)-tetrahydroimidazole) (2).

A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.

Congenital cataract is one of the leading causes of human blindness. In this study, we identified a novel, heterozygous c.385G View Article and Find Full Text PDF

[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].

To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c.

[Expression of recombinant human BMP-6 in Escherichia coli and its purification and bioassay in vitro].

To purify the recombinant human BMP-6 protein and to establish its in vitro bioassay method. The cDNA encoding the mature peptide of hBMP-6 protein was amplified by reverse transcription-polymerase chain reaction (RT-PCR), using human placental mRNA as template, and subcloned into the high-expression vector pET-15b under the control of T7 lac promoter. The resulting construct, pET-BMP6, was then transformed into an Escherichia coli strain BL21 (DE3) for the production of recombinant hBMP-6 protein (rhBMP-6).

[Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood].

Objective: Rapid Genetic Screening of Leber's hereditary optic neuropathy (LHON) with mtDNA G11778A mutation by allele-specific polymerase chain reaction (AS-PCR) with whole blood.

Methods: Whole blood with anticoagulant was used as a template of AS-PCR for the analysis of LHON with mtDNA G11778A point mutation. The amplified DNA fragment was directly observed by electrophoretogram with ethidium bromide stained.