Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

Chen, Chih‐Ping; Chang, Shinn‐Jen; Lin, Chen‐Ju; Chern, Schu‐Rern; Wu, Peih-Shan; Chen, Shin-Wen; Lai, Shih-Ting; Chuang, Tzu-Yun; Chen, Wenlin; Yang, Chien-Wen; Wang, Wayseen

doi:10.1016/j.tjog.2018.08.023

Cited by 20 publications

(21 citation statements)

References 15 publications

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“…Moreover, based on frontier molecular orbital theory, LUMO value of the solute or solvent in the electrolyte also closely correlates with the SEI composition. The F functional group in the fluorinated solvents triggers strong electron‐withdrawing effect toward Li metal anode and lower LUMO energy level in jointly ensuring the preferential reaction between fluorinated solvent and Li metal anode to form LiF‐rich SEI passivation surface [71–73], which is beneficial to improve the performance and prolong the cycling‐life of the LMBs.…”

Section: Resultsmentioning

confidence: 99%

Accurate redox potentials for solvents in Li‐metal batteries and assessment of density functionals

Zhang

Yang

Zhao³

et al. 2022

Int J of Quantum Chemistry

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The practical applications of Li metal batteries (LMBs) have been limited by the anodic instability which causes fatal problems including low Coulombic efficiency and short cycling lifespan. One way of addressing this issue is to develop new solvents with suitable redox potentials for electrolytes of LMBs. By using the recently developed Wuhan–Minnesota‐scaling method, the work has developed the Redox20 benchmark database consisting of the Ox10 subset of 10 oxidation potentials and the Red10 subset of 10 reduction potentials for four conventional and six fluorinated solvents in LMBs. The performances of 35 DFT methods have been assessed against Redox20. Based on the assessments, M05‐2X, M08‐HX, M08‐SO, M06‐2X, and revM06 functionals are the most accurate for the predictions of oxidation potentials, and the N12, M06‐HF, M08‐HX, HSE06, and PW6B95‐D3 functionals are best performers for calculating reduction potentials. M08‐HX gives the lowest average mean unsigned error, and it is recommended for the calculation of redox potentials. M08‐HX has been employed to calculate the redox potentials and highest occupied molecular orbital/lowest unoccupied molecular orbital structures of 48 solvents for LMBs, which is beneficial to the selection of optimal LMBs electrolyte solvents.

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Section: Resultsmentioning

confidence: 99%

Accurate redox potentials for solvents in Li‐metal batteries and assessment of density functionals

Zhang

Yang

Zhao³

et al. 2022

Int J of Quantum Chemistry

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“…Because Igf2 expression varied substantially among Δ3.8 /+ and Δ3.8/hIC1 hearts (Figure 5D), we hypothesize that the varying penetrance of septal defects in these hearts reflects the range of H19/Igf2 levels. The only upregulated gene in Δ3.8/hIC1 endothelial cells compared to wild-type was Cadherin 18 (Cdh18) (Figure 6E), which was also upregulated in Δ3.8 /+ samples compared to wild-type (Supplemental Figure 8C) and clinically reported to be mutated in CHDs including VSD (Chen et al, 2018; Soemedi et al, 2012). Although we and others showed that restoring Igf2 successfully rescues the growth restriction in SRS-like mouse models (Han, Szabó, & Mann, 2010; Liao et al, 2021), septal defects caused by H19 and Igf2 dysregulation are reported for the first time in this study.…”

Section: Discussionmentioning

confidence: 98%

DysregulatedH19/Igf2expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models

Chang

Fulmer

Hur

et al. 2022

Preprint

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Dysregulation of the imprinted H19/IGF2 locus can lead to Silver-Russell Syndrome (SRS) in humans. However, the mechanism of how abnormal H19/IGF2 expression contributes to various SRS phenotypes remains unclear, largely due to incomplete understanding of the developmental functions of these two genes. We previously generated a mouse model with humanized H19/IGF2 ICR (hIC1) on the paternal allele that exhibited H19/Igf2 dysregulation together with SRS-like growth restriction and perinatal lethality. Here we dissect the role of H19 and Igf2 in cardiac and placental development utilizing multiple mouse models with varying levels of H19 and Igf2. We report severe cardiac defects such as ventricular septal defects (VSDs) and thinned myocardium, placental anomalies including thrombosis and vascular malformations, together with growth restriction in mouse embryos that correlated with the extent of H19/Igf2 dysregulation. Transcriptomic analysis using cardiac endothelial cells of these mouse models shows that H19/Igf2 dysregulation disrupts pathways related to extracellular matrix (ECM) and proliferation of endothelial cells. Our work links the heart and placenta through regulation by H19 and Igf2, demonstrating that accurate dosage of both H19 and Igf2 is critical for normal embryonic development, especially related to the cardiac-placental axis.

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“…To our best knowledge, few studies have been conducted to reveal the absolute genotype–phenotype relationship of these two genes. Some studies reported the association between CDH18 gene and congenital heart diseases [ 37 ], diabetes mellitus [ 38 ], and glioma [ 39 ]. Moreover, in randomized phase II clinical trial, Jiang et al [ 40 ] reported that TEKT4 germline variations in breast cancer were associated with paclitaxel resistance and increased vinorelbine sensitivity.…”

Section: Discussionmentioning

confidence: 99%

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

Chen¹,

Jiang

Chen

et al. 2022

J Transl Med

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Background Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort. Methods In this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports. Results In total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P = 0.0130). Conclusions Simultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes.

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Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

Cited by 20 publications

References 15 publications

Accurate redox potentials for solvents in Li‐metal batteries and assessment of density functionals

Accurate redox potentials for solvents in Li‐metal batteries and assessment of density functionals

DysregulatedH19/Igf2expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

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