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Endocrinology & Metabolism
Kazuhisa Akiba, Yukihiro Hasegawa, Yuko Katoh-Fukui, Miho Terao, Shuji Takada, Tomonobu Hasegawa, Maki Fukami, Satoshi Narumi
Summary: This study demonstrates that the c.143-83A>G variant leads to splicing disruption, resulting in morphological and functional abnormalities in the pituitary gland. The findings provide valuable insights into the role of POU1F1/Pou1f1 transcripts in pituitary development.
Article
Multidisciplinary Sciences
Kenichiro Sadamitsu, Leona Shigemitsu, Marina Suzuki, Daishi Ito, Makoto Kashima, Hiromi Hirata
Summary: The study cloned the genes of zebrafish GABA(A) receptor subunits, investigated their expression patterns and electrophysiological properties, revealing that the functional characteristics of zebrafish GABA(A) receptors are conserved among vertebrates.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Yuan Zhao, Huiwu Geng, Gang Liu, Qiang Ji, Xiaomin Cheng, Xinying Li, Wei Liu, Rick F. Thorne, Renquan Zhang, Xiaoying Liu
Summary: This study identified USP39 as upregulated in human esophageal squamous cell carcinoma (ESCC) and significantly associated with clinicopathological characteristics. Upregulation of USP39 in ESCC promoted cancer cell growth and regulated the mTOR pathway.
FRONTIERS IN ONCOLOGY
(2021)
Article
Health Care Sciences & Services
Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C-C Hu, Jung-Wook Kim
Summary: This study identified three novel mutations associated with hereditary dentin defects and expanded the mutational spectrum of the DSPP gene. The study also found that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of dentin defects, advancing our understanding of the molecular pathogenesis of this condition.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Oncology
Xinyue Zhao, Keqiang Liu, Wenshuai Xu, Meng Xiao, Qianli Zhang, Jiaxing Song, Keqi Chen, Yaping Liu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Summary: Cystic fibrosis (CF) is a rare autosomal recessive disease caused by mutations in the CFTR gene. A Chinese patient with CF was found to carry a newly identified pathogenic mutation c.1210-3C > G, which affects CFTR gene splicing and produces nearly no normal transcript in vitro when combined with a T5 sequence. Additionally, the patient also carries a p.Gly970Asp mutation, confirming its high frequency in Chinese CF patients.
FRONTIERS OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Stella Amanda, Tze King Tan, Jolynn Zu Lin Ong, Madelaine Skolastika Theardy, Regina Wan Ju Wong, Xiao Zi Huang, Muhammad Zulfaqar Ali, Yan Li, Zhiyuan Gong, Hiroshi Inagaki, Ee Yong Foo, Brendan Pang, Soo Yong Tan, Shinsuke Iida, Takaomi Sanda
Summary: This study demonstrates the oncogenicity of IRF4 in zebrafish models and its potential effects on T-cell development and clonal evolution. The majority of IRF4-driven tumors are composed of double-negative T cells and show sensitivity to a BRD inhibitor.
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Cheng Zhao, Sijin Wang, Yuxi Liu, Peng Chu, Bing Han, Xianhui Ning, Tao Wang, Shaowu Yin
Summary: This study investigates the ovarian response to cold stress in zebrafish by exposing female zebrafish to different low temperatures. The results suggest that the MAPK and Calcium signaling pathways play a crucial role in the adaptation of zebrafish ovaries to cold stress. Cold stress dysregulates the immune system and activates ovarian autophagy. Furthermore, a significant increase in genes related to reproductive functions was observed under cold stress at 10 degrees C compared to the control.
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY D-GENOMICS & PROTEOMICS
(2023)
Article
Cell Biology
Mauricio Gomes Pio, Maricel F. Molina, Sofia Siffo, Ana Chiesa, Carina M. Rivolta, Hector M. Targovnik
Summary: Mutations in TG gene can cause thyroid dysfunction and affect the health of newborns. A rare genetic mutation causing congenital hypothyroidism was identified in the study, contributing to a better understanding of the disease.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Liubov O. Skorodumova, Ksenia A. Davydenko, Alexandra Y. Filatova, Mikhail Yu Skoblov, Nikolay A. Kulemin, Maryam B. Khadzhieva, Elena S. Zakharova, Veronika D. Gordeeva, Nataliya S. Smetanina, Irina Fedyushkina, Lyudmila A. Anastasevich, Sergey S. Larin
Summary: Diamond-Blackfan anemia (DBA) is a hereditary bone marrow failure syndrome associated with pathogenic variants in ribosomal protein genes, GATA1, TSR2, and EPO. This study investigated a variant in the 5'-untranslated region (UTR) of RPS7 gene, which may be a likely pathogenic factor in DBA.