43 research outputs found
Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
Hypodontia, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency. Heterozygous female carriers tend to have mild to moderate XLHED phenotype, even though 30% of them present no obvious symptom.A large Chinese XLHED family was reported and the entire coding region and exon-intron boundaries of EDA gene were sequenced. To elucidate the mechanism for carriers' tempered phenotype, we analyzed the methylation level on four sites of the promoter of EDA by the pyrosequencing system.A known frameshift mutation (c.573-574 insT) was found in this pedigree. Combined with the pedigrees we reported before, 120 samples comprised of 23 carrier females from 11 families and 97 healthy females were analyzed for the methylation state of EDA promoter. Within 95% confidence interval (CI), 18 (78.26%) carriers were hypermethylated at these 4 sites.Chinese XLHED carriers often have a hypermethylated EDA promoter
Correction: Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers.
[This corrects the article DOI: 10.1371/journal.pone.0062203.]
Peripheral, but not central, GLP-1 receptor signaling is required for improvement in glucose tolerance after Roux-en-Y gastric bypass in mice
Pedigree and tooth development features of the Chinese family.
<p>(A) Males are indicated by squares, females by circles. Affected individuals are indicated by filled symbols and unaffected individuals by white symbols. Circle containing a dot refers to carrier. An arrow indicates the proband. (B) The panoramic radiographs of the proband confirmed there was no tooth germ in the alveolar bone (red circle) which was the severest symptom of tooth dysplasia. (C) The panoramic radiographs of a healthy control with normal tooth development.</p
Relationship between methylated state and phenotype of XLHED carriers.
<p>Hypermethylated carriers are inclined to have more conical shaped tooth and nail dysplasia than hypomethylated group.</p
Identification of the causative mutation in <i>EDA</i> gene.
<p>Arrows indicate the mutation site. The affected male patient and his mother harbored a frameshift mutation c.573–574insT.</p
<i>EDA</i> promoter’s methylation analysis of 23 carriers.
<p>(A) Pyrosequencing graphs of 2 samples, a hypermethylation carrier and a hypomethylation carrier. Peak heights are proportional to the number of identical residues incorporated. Percentage in pictures means allele frequency of each site. (B) The 95% CI for the 4 sites. The figures which refer to methyl-cytosine percent at that site are calculated as described in the text. (C) The methylation state of each carriers in the 4 sites. Red, white and blue refer to hypermethylation, normal and hypomethylation respectively.</p
Cationic Gemini Surfactants with a Bipyridyl Spacer as Corrosion Inhibitors for Carbon Steel
In this work, cationic Gemini surfactants
with different alkyl
chain lengths (n = 8, 10, and 12) and a bipyridyl
spacer were synthesized and tested as corrosion inhibitors for carbon
steel in 1 M HCl solution. The corrosion inhibition efficiency was
determined by weight loss measurement, potentiodynamic polarization,
and electrochemical impedance spectroscopy. Results showed that such
three inhibitors could effectively inhibit the corrosion of carbon
steel in 1 M HCl solution, especially at their low concentrations,
while the carbon chain length of Geminis used played a negligible
role in the inhibition efficiency. Scanning electron microscopy/energy
dispersive X-ray analysis observations demonstrated the formation
of a protective inhibitor layer on the carbon steel surface. Additionally,
the adsorption of the inhibitor molecules on the carbon steel surface
was found to obey the Langmuir isotherm
Clinical phenotypes of family members in the Chinese pedigree.
<p>A: affected; C: carrier; F: female; M: male; NM: no missing; +: positive; number of ‘+’ symbols reflects the degree of these clinical features; -: negative; 13: Right maxillary canine; 23: Left maxillary canine.</p