Article
Developmental Biology
Sanjana Srinivasan, Xinjian He, Sarah Mirza, Jesse Mager
Summary: Exosome Complex Components 1 and 2 (EXOSC1 and 2) are essential proteins in the RNA Exosome complex that play important roles in early mammalian development. Their absence results in developmental delay and morphological abnormalities in embryos.
GENE EXPRESSION PATTERNS
(2024)
Article
Genetics & Heredity
Tamara Petronic, Maria Alfilali, Adna Asic
Summary: The CCR5A32 allele plays a significant role in HIV resistance but is essentially absent in other populations. The origins and formation of this allele are disputed and are associated with historical events such as Viking raids, smallpox infection, the Black Death, and hemorrhagic fevers.
Article
Genetics & Heredity
Chao Zuo, Yi Liu, Xiang Li, Yu Wang, Ziqiang Wang, Yongchao Qiao
Summary: This study investigated the effects of CYP11B2 gene polymorphisms on ACTH and Ang II in Chinese patients with T2DM and T2MH. The results showed that CYP11B2 gene polymorphism was not associated with susceptibility to hypertension in Chinese T2DM patients, but its association with ACTH and Ang II levels may be a risk factor for susceptibility to hypertension in this population.
Article
Biochemistry & Molecular Biology
Lele Wu, Wen Sun, Jiale Zhou, Yaolin Li, Jun Li, Zongcheng Song, Changbin Song, Shihong Xu, Xinlu Yue, Xian Li
Summary: The study finds that red light induces dichromatic skin pigmentation in turbot juveniles, with some individuals displaying black coloration and others displaying lighter skin. The upregulated gene expressions related to melanin synthesis and the involvement of the nervous system in spectral environment-driven color regulation are both crucial factors.
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY D-GENOMICS & PROTEOMICS
(2024)
Article
Genetics & Heredity
Dhananjay Gire, Shrirang Inamdar, Jhankar Acharya, Sharwari Sadawarte, Abhijeet Kulkarni, Saroj Ghaskadbi
Summary: This study used RNA sequencing data to analyze differential gene expression during adipogenesis. The results showed that lipid metabolism and oxidation-reduction reactions play important roles in the process. Gene set enrichment analysis revealed that upregulated genes were related to PPAR signaling, adipogenesis, adipocytokine signaling, and fatty acid metabolism, while downregulated genes were associated with myogenesis, calcium signaling, ERBB signaling, and TGFI3 signaling pathways, which are considered anti-adipogenic. The analysis of two important transcription factors, PPAR gamma and CEBP alpha, showed changes in their interactions throughout adipogenesis.
Article
Genetics & Heredity
Ana Chiesa, Norma Specola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel R. F. Vilela, Debora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernan Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandao Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz
Summary: This study investigated adherence to Phenylketonuria (PKU) management practices among patients in Argentina, Brazil, and Mexico. The results showed that there is room for improvement in terms of adherence, especially among adults and older children. Efforts must be made to educate patients and healthcare professionals about the importance of treatment adherence, and public policies should be implemented to improve access to pharmacological and dietary treatment.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Genetics & Heredity
Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Summary: The FLNC gene encodes the Filamin-C (FLNC) protein, which plays important roles in structural and signaling functions in the myocyte. Pathogenic variations in FLNC have been associated with various forms of autosomal dominant cardiomyopathy. Recent reports have identified rare recessive FLNC mutations in individuals with either cardiomyopathy or myopathy. This suggests that the phenotypic expression of FLNC variants is highly heterogeneous and can be inherited in either dominant or recessive forms.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Biochemistry & Molecular Biology
Diana Medina-Felix, Francisco Vargas-Albores, Estefania Garibay-Valdez, Luis Rafael Martinez-Cordova, Marcel Martinez-Porchas
Summary: In this research, the effects of Nocardia infection on fish gastrointestinal microbiota were analyzed. It was found that the infection led to decreased survival rate, severe damage to the stomach microbiota, and a significant increase in Proteobacteria. A negative correlation network between Proteobacteria and other important phyla was observed. Therefore, Nocardia sp. is an emerging pathogen capable of inducing dysbiosis and causing significant mortalities.
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY D-GENOMICS & PROTEOMICS
(2024)
Article
Genetics & Heredity
Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo
Summary: Supplementation with cholic acid in SLOS patients can increase plasma cholesterol levels and improve symptoms of cholesterol deficiency.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Genetics & Heredity
Manuel Puehringer, Astrid Eisenkoelbl, Gudrun Groeppel
Summary: Polyglucosan body myopathy-1 is a rare glycogen storage disease that causes muscle weakness and cardiomyopathy. The clinical presentation may be influenced by genetic mutations, but no clear genotype/phenotype correlation has been established. We report a 7-year-old patient who experienced recurrent vomiting and respiratory infections in her first year, and was subsequently diagnosed with achalasia. Whole exome sequencing revealed a previously described mutation found in other patients with this disease.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Genetics & Heredity
Tomoyo Itonaga, Miwako Maeda, Hiroshi Koga, Yuki Hasegawa, Kenji Ihara
Summary: 3-Methylglutaconic aciduria type 1 (MGCA1) can be detected through newborn screening and patients may be asymptomatic or exhibit speech delay. Further research is needed to evaluate the efficacy of specific treatments for this condition.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Genetics & Heredity
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
Summary: With the rapid advancement of medical technologies, the number of treatable neurometabolic diseases is increasing. This study reports two Chinese brothers with bi-allelic pathogenic variants in the CYP2U1 gene who were treated with folinic acid supplement for over a decade and remained stable under therapy.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2024)
Article
Genetics & Heredity
Amir Askarinejad, Shiva Esmaeili, Mohamad Dalili, Alireza Biglari, Erfan Kohansal, Majid Maleki, Samira Kalayinia
Summary: This study presents a novel CASQ2 variant that causes CPVT2 and provides a comprehensive review on this topic. The findings suggest that CASQ2 variants play an important role in the pathogenesis of CPVT2 and may be associated with neurological symptoms in patients. Further studies are needed to explore the specific role of this gene in CPVT evaluation, diagnosis, and gene therapy.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Wenyi Liu, Yinru Liu, Fengyuan Wei, Jing Chen, Lifeng Zhou, Hongshi Yu, Jiaojiao Zhang, Jiafu Hu
Summary: This study demonstrated the regulatory function of the ntr-1 gene in mating behavior and theoretically revealed the molecular basis of interspecific asymmetric mating.
Article
Genetics & Heredity
Qingqing Wang, Huaifeng Liu, Zhiheng Wang, Yuxin Chen, Shujing Zhou, Xinyi Hu, Yangfei Xu, Xinxin Zhang, Yuanyuan Wang, Yu Gao, Shujing Li
Summary: This study found that the abnormal expression of Per3 gene is associated with astroblastoma, a type of brain tumor. Interference of Per3 inhibits cell proliferation, migration, and invasion, while promoting apoptosis in astroblastoma cells. Overexpression of Per3 has the opposite effects. These findings suggest that Per3 may serve as a promising therapeutic target for the treatment of astroblastoma.
Article
Genetics & Heredity
Xiaoqing Wu, Baojia Huang, Xiaorui Xie, Meiying Cai, Yuqin Chen, Bin Liang, Qingmei Shen, Danhua Guo, Na Lin, Linjuan Su, Liangpu Xu
Summary: This study aimed to evaluate chromosomal abnormalities in twin pregnancies using karyotyping and SNP array analysis. The results showed that aneuploidies were the primary abnormalities in twin pregnancies, with higher detection rates in DCDA pregnancies. Ultrasound abnormalities and advanced maternal age were common indications, while cardiac defects and increased nuchal translucency were common anomalies.
Article
Genetics & Heredity
Bin Yang, Ya-Wen Wang, Kai Zhang
Summary: This review systematically summarizes the potential molecular mechanism of circRNA-protein interaction in breast cancer, including direct and indirect interactions. It also discusses the potential application of this interaction in breast cancer treatment.
