XIAOXIA WANG^1,#, ZHONGYUAN YAO^1,2,#, DI LIU¹, CHUNHONG YU^3,*, HUI LI^1,3,*

BIOCELL, Vol.46, No.8, pp. 1803-1806, 2022, DOI:10.32604/biocell.2022.019731 - 22 April 2022

Abstract Each stage of embryonic development, including normal gamete maturation, fertilization, zygotic genome activation, and cleavage, is crucial for human reproduction. Early embryo arrest is a common phenomenon. It is estimated that about 40%–70% of human embryos are arrested at early developmental stages. However, the exact mechanism remains largely uncertain. Embryos can be investigated in vitro by way of the development of in vitro fertilization/intracytoplasmic sperm injection. In addition to iatrogenic factors related to abnormal oocyte/embryo development, multiple gene mutations have been found to be involved in such phenotypes. Based on the knowledge of known etiological factors, several More >

Muyu Qi^1,#, Xiaoping Lan^2,#, Jia Li¹, Junwen Ge¹, Li Shen^1,*, Rufang Zhang^1,*

Congenital Heart Disease, Vol.16, No.5, pp. 487-498, 2021, DOI:10.32604/CHD.2021.015887 - 03 June 2021

Abstract Objective: Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery. Therefore, defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling, future prenatal diagnosis, and therapeutic approaches for pulmonary atresia. Methods: Blood samples were collected from six PA family members, and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. Gene detection was performed using a second-generation sequencing gene panel. Results: Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected… More >

Hyeong Won Yu¹, Muhammad Afzal², Maqbool Hussain², Hyungju Kwon³, Young Joo Park⁴, June Young Choi^1,*, Kyu Eun Lee⁵

CMC-Computers, Materials & Continua, Vol.67, No.1, pp. 1241-1251, 2021, DOI:10.32604/cmc.2021.014910 - 12 January 2021

Abstract Advances in technology are enabling gene mutations in papillary thyroid carcinoma (PTC) to be analyzed and clinical outcomes, such as recurrence, to be predicted. To date, the most common genetic mutation in PTC is in BRAF kinase (BRAF). However, whether mutations in other genes coincide with those in BRAF remains to be clarified. The aim of this study was to find mutations in other genes that co-exist with mutated BRAF, and to analyze their frequency and clinical relevance in PTC. Clinical and genetic data were collected from 213 PTC patients with a total of 36,572… More >

Ya-Sian Chang^*†‡§, Chieh-Min Chang^†‡, Chien-Yu Lin^¶#, Dy-San Chao^†, Hsi-Yuan Huang^†, Jan-Gowth Chang^{*†‡**††}

Oncology Research, Vol.28, No.2, pp. 107-116, 2020, DOI:10.3727/096504019X15698362825407

Abstract The genomic landscape of breast cancer (BC) is complex. The purpose of this study was to decipher the mutational profiles of Taiwanese patients with BC using next-generation sequencing. We performed whole-exome sequencing on DNA from 24 tumor tissue specimens from BC patients. Sanger sequencing was used to validate the identified variants. Sanger sequencing was also performed on paired adjacent nontumor tissues. After genotype calling and algorithmic annotations, we identified 49 deleterious variants in canonical cancer-related genes in our BC cohort. The most frequently mutated genes were PIK3CA (16.67%), FKBP9 (12.5%), TP53 (12.5%), ATM (8.33%), CHEK2 (8.33%), FOXO3 (8.33%), NTRK1… More >