Role of chimeric transcript formation in the pathogenesis of birth defects

2020 ◽  
Author(s):  
Mamiko Yamada ◽  
Hisato Suzuki ◽  
Akiko Watanabe ◽  
Tomoko Uehara ◽  
Toshiki Takenouchi ◽  
...  
Keyword(s):  
Birth Defects ◽  
Chimeric Transcript

Role of Copy Number Variants in Structural Birth Defects: TABLE 1

PEDIATRICS ◽  
2012 ◽  
Vol 129 (4) ◽  
pp. 755-763 ◽  
Author(s):  
Abigail E. Southard ◽  
Lisa J. Edelmann ◽  
Bruce D. Gelb
Keyword(s):  
Birth Defects ◽  
Copy Number ◽  
Copy Number Variants

scholarly journals Demographic Characteristics of Mothers Who Delivered Children with Birth Defetcs

2018 ◽  
pp. 222-227
Author(s):  
Yudianto B Saroyo ◽  
Christian Wijaya ◽  
Putri M T Marsubin
Keyword(s):  
Retrospective Study ◽  
Birth Weight ◽  
Antenatal Care ◽  
Birth Defects ◽  
Medical Records ◽  
Birth Defect ◽  
Demographic Characteristics ◽  
Comorbid Disease ◽  
Increased Risk

Abstract Objective: to determine the characteristics and background of mothers who delivered neonates with birth defects. Methods: A retrospective study was used by evaluating the medical records of patients with birth defects in Dr. Cipto Mangunkusumo Hospital during the period between September 2014 and June 2016. Results: A total of 67 (1.85%) out of 3,619 infants who were born in Dr. Cipto Mangunkusumo Hospital during the period between September 2014 and June 2016 had birth defects. Forty-seven (70.1%) mothers of the subjects irregularly attend antenatal care. The most frequent maternal comorbid disease in this study was asthma, which was found in 4 (5.97%) mothers of the subjects. 48 (58.7%) subjects had birth weight under 2500 g. Conclusion: In this retrospective study, the main highlight is that 70.1% of the mothers who delivered neonates with birth defects did not attend antenatal care regularly. 58.7% of the neonates with birth defects had low birth weight. This study could be used as base for further research investigating about the role of antenatal care in early detection and/or the planning of delivery for babies with birth defects. Trends in babies with birth defects suggested that fetuses diagnosed with IUGR/SGA should be given special attention, as they were at increased risk for birth defects. Keywords: birth defect, maternal description   Abstrak Tujuan: untuk mengetahui deskripsi/ciri-ciri  dan latar belakang ibu yang melahirkan janin dengan kelainan bawaan. Metode: Studi retrospektif digunakan dengan menggunakan data sekunder rekam medis pasien dengan kelainan bawaan di Rumah Sakit Umum Pusat Nasional Dr. Cipto Mangunkusumo pada periode September 2014-Juni 2016. Hasil: Sejumlah 67 (1.85%) dari 3,619 neonatus didapatkan dengan kelainan bawaan di RSUPN Cipto Mangunkusumo pada periode September 2014-Juni 2016 . Sejumlah 47 (70.1%) ibu dari subjek tidak teratur dalam melakukan kunjungan antenatal care. Penyakit komorbid ibu yang paling banyak ditemukan dalam studi ini adalah asma, yang ditemukan dalam 4 (5.97%) subjek. 48 (58.7%) subyek memiliki berat lahir di bawah 2500 g. Kesimpulan: Pada studi retrospektif ini didapatkan 70.1% ibu yang melahirkan bayi dengan kelainan bawaan tidak melakukan kunjungan antenatal care. Didapatkan bahwa 58,7% bayi yang lahir dengan kelainan bawaan memiliki berat badan lahir rendah (BBLR). Studi ini dapat dijadikan sebagai landasan dilakukannya studi yang lebih besar untuk mengevaluasi peran antenatal care terhadap deteksi dini dan/atau perencanaan persalinan bayi dengan kelainan bawaan. Tren pada bayi dengan kelainan bawaan menunjukkan bahwa janin yang pada antenatal care didapatkan IUGR/SGA patut diperhatikan lebih untuk kecurigaan kemungkinan adanya kelainan bawaan. Kata kunci:   deskripsi ibu,   kelainan bawaan,

Maternal Thyroid Function, Use of Antithyroid Drugs in Early Pregnancy, and Birth Defects

2019 ◽  
Vol 104 (12) ◽  
pp. 6040-6048 ◽  
Author(s):  
Stine Linding Andersen ◽  
Louise Knøsgaard ◽  
Jørn Olsen ◽  
Peter Vestergaard ◽  
Stig Andersen
Keyword(s):  
Thyroid Function ◽  
Birth Defects ◽  
Early Pregnancy ◽  
Antithyroid Drug ◽  
Maternal Blood ◽  
Antithyroid Drugs ◽  
Birth Cohorts ◽  
Increased Risk ◽  
Maternal Thyroid

Abstract Context Antithyroid drug (ATD) therapy in early pregnancy is associated with birth defects, but more data are needed to substantiate the risk associated with different types of ATD. Furthermore, the role of abnormal maternal thyroid function per se remains unclarified. Objective To evaluate the risk of birth defects associated with the use of ATD in an extended nationwide cohort and the role of abnormal maternal thyroid function in birth cohorts including stored maternal blood samples from early pregnancy. Participants Danish pregnant women and their live-born children, including 1,243,353 children from a Nationwide Register-Based Cohort (NRBC), 1997 to 2016; 8830 children from the Danish National Birth Cohort (DNBC), 1997 to 2003; and 14,483 children from the North Denmark Region Pregnancy Cohort (NDRPC), 2011 to 2015. Main Outcome Measures Birth defects diagnosed before 2 years of age. Results In the NRBC, altogether 2718 (0.2%) children had been exposed to ATD in early pregnancy. The overall frequency of birth defects was 6.7% (95% CI, 6.7% to 6.8%) in nonexposed children and higher after exposure to methimazole/carbimazole (9.6%; 95% CI, 8.2% to 11.2%) and propylthiouracil (8.3%; 95% CI, 6.7% to 10.3%). On the other hand, the frequency of maternal thyroid dysfunction in early pregnancy was similar in the random cohort and in cases of birth defect in the DNBC (12.4 vs 12.6%, P = 0.8) and the NDRPC (15.1 vs 15.4%, P = 0.8). Conclusions Results corroborate an increased risk of birth defects associated with the use of ATD in early pregnancy and suggest that abnormal maternal thyroid function is not a major risk factor for birth defects.

Role of Copy Number Variants in Structural Birth Defects

2012 ◽  
Vol 67 (8) ◽  
pp. 472-473
Author(s):  
Abigail E. Southard ◽  
Lisa J. Edelmann ◽  
Bruce D. Gelb
Keyword(s):  
Birth Defects ◽  
Copy Number ◽  
Copy Number Variants

scholarly journals Interfering Expression of Chimeric Transcript SEPT7P2-PSPH Promotes Cell Proliferation in Patients with Nasopharyngeal Carcinoma

2019 ◽  
Vol 2019 ◽  
pp. 1-10 ◽  
Author(s):  
Jing Wang ◽  
Guo-Feng Xie ◽  
Yuan He ◽  
Ling Deng ◽  
Ya-Kang Long ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Nasopharyngeal Carcinoma ◽  
Cell Lines ◽  
Southern China ◽  
Chromosomal Translocation ◽  
Distinct Type ◽  
Chimeric Transcript ◽  
Trans Splicing

Introduction. Nasopharyngeal carcinoma (NPC) is a distinct type of head and neck cancer which is mostly prevalent in southern China. The development of NPC involves accumulation of multiple genetic changes. Chromosomal translocation is always thought to be accompanied with the fusion chimeric products. To data, the role of the fusion chimeric transcript remains obscure. Materials and Methods. We performed RNA sequencing to detect the fusion genes in ten NPC tissues. Sanger sequencing and quantitative RT-PCR were used to measure the level of the fusion chimeric transcript in NPC tissues and cell lines. The functional experiments such as CCK8 assay, colony formation, and migration/invasion were conducted to analyze the role of this transcript in NPC in vitro. Results. We demonstrated that the chimeric transcript SEPT7P2-PSPH was formed by trans-splicing of adjacent genes in the absence of chromosomal rearrangement and observed in both NPC patients and cell lines in parallel. Low-expression of the SEPT7P2-PSPH chimeric transcript induced the protein expression of PSPH and promoted cell proliferation, metastasis/invasion, and transforming ability in vitro. Conclusions. Our findings indicate that the chimeric transcript SEPT7P2-PSPH is a product of trans-splicing of two adjacent genes and might be a tumor suppressor gene, potentially having the role of anticancer activity.

Role of Infectious Agents in Birth Defects

1979 ◽  
pp. 569-585 ◽  
Author(s):  
André J. Nahmias ◽  
Aarolyn M. Visintine
Keyword(s):  
Birth Defects ◽  
Infectious Agents

scholarly journals The RNA helicase DDX3 induces neural crest by promoting AKT activity

Development ◽  
2020 ◽  
pp. dev.184341
Author(s):  
Mark Perfetto ◽  
Xiaolu Xu ◽  
Congyu Lu ◽  
Yu Shi ◽  
Natasha Yousaf ◽  
...  
Keyword(s):  
Neural Crest ◽  
Birth Defects ◽  
Kinase Activity ◽  
Rna Helicase ◽  
Small Gtpase ◽  
Potential Mechanism ◽  
Downstream Signaling ◽  
Downstream Effectors ◽  
Evolutionarily Conserved

Mutations in the RNA helicase DDX3 have emerged as a frequent cause of intellectual disability in humans. Because many patients carrying DDX3 mutations have additional defects in craniofacial structures and other tissues containing neural crest (NC)-derived cells, we hypothesized that DDX3 is also important for NC development. Using Xenopus tropicalis as a model, we show that DDX3 is required for normal NC induction and craniofacial morphogenesis by regulating AKT kinase activity. Depletion of DDX3 decreases AKT activity and AKT-dependent inhibitory phosphorylation of GSK3β, leading to reduced levels of β-catenin and Snai1, two GSK3β substrates that are critical for NC induction. DDX3 function in regulating these downstream signaling events during NC induction is likely mediated by RAC1, a small GTPase whose translation depends on the RNA helicase activity of DDX3. These results suggest an evolutionarily conserved role of DDX3 in NC development by promoting AKT activity, and provide a potential mechanism for the NC-related birth defects displayed by patients harboring mutations in DDX3 and its downstream effectors in this signaling cascade.

scholarly journals Aurora B Tension Sensing Mechanisms in the Kinetochore Ensure Accurate Chromosome Segregation

2021 ◽  
Vol 22 (16) ◽  
pp. 8818
Author(s):  
Shelby L. McVey ◽  
Jenna K. Cosby ◽  
Natalie J. Nannas
Keyword(s):  
Chromosome Segregation ◽  
Birth Defects ◽  
Spindle Assembly Checkpoint ◽  
Spindle Assembly ◽  
Aurora B ◽  
Sister Chromatids ◽  
Congenital Birth Defects ◽  
Biochemical Signals ◽  
Segregation Of Chromosomes

The accurate segregation of chromosomes is essential for the survival of organisms and cells. Mistakes can lead to aneuploidy, tumorigenesis and congenital birth defects. The spindle assembly checkpoint ensures that chromosomes properly align on the spindle, with sister chromatids attached to microtubules from opposite poles. Here, we review how tension is used to identify and selectively destabilize incorrect attachments, and thus serves as a trigger of the spindle assembly checkpoint to ensure fidelity in chromosome segregation. Tension is generated on properly attached chromosomes as sister chromatids are pulled in opposing directions but resisted by centromeric cohesin. We discuss the role of the Aurora B kinase in tension-sensing and explore the current models for translating mechanical force into Aurora B-mediated biochemical signals that regulate correction of chromosome attachments to the spindle.

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