Shun-Ping Chang

A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy

To assess the possible correlations between the reported candidate genes (VEGFR3, FOXC2, ITGA9 and ITGB1) and the clinical response in fetuses with severe congenital chylothorax (CC) treated by prenatal OK‐432 pleurodesis.

Characteristics of strained-germanium p- and n-channel field effect transistors on a Si (111) substrate

Characteristics of strained-germanium (Ge) p- and n-channel field effect transistors directly on Si (1 1 1) substrates have been investigated. A strained-Ge layer with a thickness of ~4 nm has been grown on the relaxed Si/Si (1 1 1) substrate by ultra-high-vacuum chemical vapour deposition. To improve the oxide/strained-Ge interface, a thin Si-cap layer with a thickness of 3 nm has been grown on the strained-Ge layer. After the device process, 1 nm thickness of Si-cap layer remains on the strained-Ge layer. Thicknesses of all epitaxial layers have been measured by transmission electron microscopy. Raman spectroscopy measurement on the Si-cap/strained-Ge layer shows that the strained-Ge layer has a compressive strain of ~1.25%. A hole confinement shoulder on the capacitance–voltage curve at the accumulation region has been observed due to carrier confinement at the Si-cap/strained-Ge hetero-interface. A metal–oxide–semiconductor (MOS) structure on the strained-Ge layer shows a moderate interface trap charge density of ~2.8 × 1011 cm−2 eV−1. Strained-Ge p- and n-channel field effect transistors show low off-state leakage currents of ~3.8 × 10−13 A µm−1 and ~6.5 × 10−13 A µm−1, respectively. Drive currents of strained-Ge p- and n-channel field effect transistors are enhanced by ~100% and ~40%, respectively, as compared with bulk Si (1 1 1) transistors. Peak hole and electron mobility of strained-Ge (1 1 1) field effect transistors at the low effective field are found to be ~110% and ~30% enhancement, respectively, as compared with bulk Si (1 1 1) transistors, due to high hole and electron mobility enhancement factor as well as strain-induced lower conduction mass in the strained-Ge channel.

Strained Pt Schottky diodes on n-type Si and Ge

In summary, the reduction of the Schottky-barrier height for the n-type semiconductor under external mechanical strain is observed. This reduction is shown to originate from the reduction of conduction band edge. The boundary condition under uniaxial strain technology is stress-free along the direction perpendicular to uniaxial stress obtain the reasonable agreement between data and theoretical calculation

Abnormal hole mobility of biaxial strained Si

The strain effect on the hole mobility is investigated by bulk Si field-effect transistor, substrate-strained Si devices, and these devices under biaxial tensile mechanical strain. The hole mobility along ⟨110⟩ direction on (001) Si substrate degrades at small biaxial tensile strain (<∼0.3%) but enhances at the biaxial tensile strain larger than ∼0.3%. This abnormal behavior can be understood in terms of the effective hole conductive mass which is the population average of heavy-hole and light-hole masses. The effective mass is more heavy-hole-like at small strain, since the heavy-hole band has a larger density of state than light-hole band. As the biaxial tensile strain increases, the hole population in the light-hole band increases due to the upshift and crossover of the light-hole band above the heavy-hole band. Therefore, the effective mass with larger biaxial tensile strain decreases significantly due to the small mass of light hole. The effective hole mass, which increases at small strain, then decr...

High Ge Content of SiGe Channel pMOSFETs on Si (110) Surfaces

The characteristics of Si0.2Ge0.8 channel PFETs fabricated directly on Si (110) surfaces have been investigated. The saturation drain current and the hole mobility of a Si0.2Ge0.8 (110) PFET are enhanced by 70% and by 80% for the <110> channel, as compared with that of a bulk Si (110) PFET. For comparison with a Si (100) PFET, a SiGe <110>/(110) PFET has ~ 200% hole mobility enhancement. The performance difference of the SiGe <110>/(110) and <100>/(110) PFET is about 2.7 times when considering mobility, and these effects are explained.

Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer, independent of TP53 mutation

The objective of this study was to investigate whether somatic mutations in the mitochondrial DNA (mtDNA) D-loop region correlate with known prognostic factors, namely, age, tumor size, lymph node status, metastasis, tumor-node-metastasis stage, lymphovascular invasion, and status of the progesterone receptor, estrogen receptor, ERBB2 (alias HER2/neu), and TP53 proteins (as determined by immunohistochemistry) and to investigate their relationship, if any, to TP53 mutations in human breast cancer. Thirty breast tumors without BRCA mutation, along with adjacent nontumorous tissues, were genotyped for the mtDNA D-loop region and for the promoter as well as the coding region of the TP53 gene. Clinicopathological parameters were recorded and assessed. In all, 17 somatic mtDNA D-loop mutations were identified, in 13 of 30 tumor samples (43%); two mutations were novel: 544C>T and 16510A>C. Four TP53 mutations were found in six tumor samples (20%), and two (c.437G>A and c.706T>C) were novel. Only progesterone receptor status correlated with the number of somatic mtDNA D-loop mutations (likelihood chi-square test; P < 0.05). Somatic mutations in the mtDNA D-loop and in TP53 were independent of each other (Fishers exact test; P > 0.05). These results suggest that the number of somatic mtDNA D-loop mutations may be an indicator of poor prognosis through a mechanism independent of TP53.

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.

A Case of Restrictive Dermopathy With Complete Chorioamniotic Membrane Separation Caused by a Novel Homozygous Nonsense Mutation in the ZMPSTE24 Gene Ming Chen, Hsiang-Hsu Kuo, Yi-Chen Huang, Yu-Yuan Ke, Shun-Ping Chang, Chih-Ping Chen, Dong-Jay Lee, Meng-Luen Lee, Mei-Hui Lee, Tze-Ho Chen, Chia-Hsiang Chen, Hui-Mei Lin, Chin-San Liu, and Gwo-Chin Ma* Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan Department of Obstetrics and Gynecology, Puli Christian Hospital, Nantou, Taiwan Department of Pediatrics, Puli Christian Hospital, Nantou, Taiwan Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Neurology, Vascular Biology and Genomics Center, Changhua Christian Hospital, Changhua, Taiwan Institute of Biochemistry and Biotechnology, Chung-Shan Medical University, Taichung, Taiwan

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

OBJECTIVES To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients. MATERIALS AND METHODS Five Taiwanese families carrying AADC were enrolled. A novel technique, amplification refractory mutation system-quantitative polymerase chain reaction (ARMS-qPCR), was developed for both of PGD and PND. For PGD, blastomere biopsies of day-3 cleavage-stage embryos were subjected to ARMS-qPCR. Villi, cultured amniocytes, or both were used to confirm the PGD result; this approach could also be used as the sole method for PND after in vivo conception). RESULTS Unaffected live births were achieved in four of the five families, except one with ongoing PGD. The ARMS-qPCR correctly classified blastomeres (from day-3 cleavage-stage embryos) as affected (homozygous mutant), carrier (heterozygous for mutant and wild-type alleles), or normal (homozygous wild-type) within 1 working day. CONCLUSIONS To our knowledge, this is the first report of successful PGD of AADC. The molecular technique we devised (ARMS-qPCR) was applicable for PGD as well as PND of AADC. Furthermore, it has great potential for similar applications in other monogenic disorders.

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

A Compound Heterozygous GNPTAB Mutation Causes Mucolipidosis II With Marked Hair Color Change in a Han Chinese Baby Gwo-Chin Ma, Yu-Yuan Ke, Shun-Ping Chang, Dong-Jay Lee, and Ming Chen* Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan Institute of Biochemistry and Biotechnology, Chung Shan Medical University, Taichung, Taiwan Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan Department of Obstetrics and Gynecology, National Taiwan University, Taipei, Taiwan Department of Life Sciences, National Chung-Hsing University, Taichung, Taiwan Department of Life Sciences, Tunghai University, Taichung, Taiwan

Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.

Although co-amplification of polymorphic microsatellite markers is the current gold standard for preimplantation genetic diagnosis (PGD) of single-gene disorders (SGD), this approach can be hampered by the lack of availability of informative markers. We recently (2011) devised a novel in-house assay for PGD of aromatic L-amino acid decarboxylase deficiency, based on an amplification refractory mutation system and quantitative PCR (ARMS-qPCR). The objective of the present study was to verify ARMS-qPCR in a cohort of 20 PGD cycles with a diverse group of SGDs (15 couples at risk for 10 SGDs). Day-3 cleavage-stage embryos were subjected to biopsy and genotyping, followed by fresh embryo transfer (FET). The diagnostic rate was 82.9%; unaffected live births were achieved in 9 of 20 FET cycles (45%), with only one false negative (among 54 transferred embryos). Overall, the ARMS-qPCR had frequent allele-dropout (ADO), rendering it inappropriate as the sole diagnostic method (despite a favorable live-birth rate). Regardless, it has the potential to complement the current gold-standard methodology, especially when trophectoderm biopsy becomes a preferred option and genotyping needs to be timely enough to enable FET.