Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Conclusions In this study of patients with clinically diagnosed SMA, 2 cases with genetic SMN types were identified that would not have been identified through current genetic testing, which examines SMN1 deletions only. …”
Get full text

Genome-wide association study of the antibody response to <i>Corynebacterium pseudotuberculosis</i> in sheep by J. Kyselová, L. Tichý, J. Marková, A. Gurgul, Z. Sztankóová, K. Vališ, S. Šlosárková, K. Kavanová, M. Beinhauerová, T. Szmatola, T. Szmatola

“…This research provides insights into the genetic basis of the antibody response to <i>C. pseudotuberculosis</i>, identifying suggestive associations and underlying biological mechanisms that could guide future breeding and genetic strategies for improving resistance to CLA in sheep.…”
Get full text

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

“…Materials and methods The family underwent a clinical assessment of intellectual development, which included precise clinical exome sequencing to identify causative genetic variants. The potential deleterious effects and pathogenicity of the variant were predicted using bioinformatics tools such as Mutation Taster, PROVEAN, and SIFT. …”
Get full text

UV-induced reorganization of 3D genome mediates DNA damage response by Veysel Oğulcan Kaya, Ogün Adebali

Get full text

Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy by Fattaneh Khajehoseini, Zahra Noormohammadi, Poopak Eftekhari-Yazdi, Hamid Gourabi, Reza Pazhoomand, Shirzad Hosseinishenatal, Masood Bazrgar

Get full text

Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging by Erkan Cagliyan, Samican Ozmen, Sureyya Saridas Demir, Ceren Aydin, Egehan Bilen, Handan Guleryuz, Elif Yasar, Derya Ercal, Elcin Bora, Tufan Cankaya

“…This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. …”
Get full text

Preliminary exploration of mRNA, lncRNA, and miRNA expressions in the bovine jejunum unveils novel aspects of Mycobacterium avium subspecies paratuberculosis infections by Yahui Gao, Jie Cao, Bo Han, Dongxiao Sun

“…This study provided a valuable resource for understanding the molecular basis of JD, potentially contributing to the genetic improvement of JD resistance in dairy cattle.…”
Get full text

CircRNAs as Possible Potential Biomarkers for Breast Cancer Prognosis and Chemotherapy Response: A Comprehensive Study by Saba Mirzaei, Mahdieh Salimi, Hossein Mozdarani

Get full text

Central precocious puberty associated with duplicated pituitary: a case report and literature review by Kun Yang, Yanmei Sang, Yanmei Sang, Li Dai, Weizhong Wang

Get full text

Chrysene alters the expression pattern of HSP70 genes in mandarin fish by Yufei Liu, Tiantian Chen, Jinliang Zhao, Xiaowu Chen

Get full text

Immune monitoring of trabectedin therapy in refractory soft tissue sarcoma patients - the IMMUNYON study by Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Paulo Rodrigues-Santos, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Jani Sofia Almeida, Luana Madalena Sousa, Luana Madalena Sousa, Luana Madalena Sousa, Patrícia Couceiro, Patrícia Couceiro, Patrícia Couceiro, Patrícia Couceiro, António Martinho, Joana Rodrigues, Ruben Fonseca, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Manuel Santos-Rosa, Paulo Freitas-Tavares, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova, José Manuel Casanova

Get full text

Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

“…Case presentation We present the case of a woman with breast cancer and subsequent osteosarcoma, both treated with surgery and chemotherapy. Constitutional genetic germline testing identified a pathogenic TP53 variant in line with the clinical features of Li-Fraumeni syndrome. …”
Get full text

Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

“…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
Get full text

Triplet Pregnancy with Partial Hydatidiform Mole Coexisting with Two Fetuses after Ovulation Induction and Intrauterine Insemination by Mehmet Serdar Kütük, Mehmet Dolanbay, Hilal Akalın, Mahmut Tuncay Özgün, Turhan Öktem, Munis Dündar, Ercan Aygen

“…After the abortion, the pathologic evaluation suggested partial mole, and genetic evaluation confirmed the diagnosis. The postpartum course complicated with persistent trophoblastic disease that well responded to four course of methotrexate therapy. …”
Get full text

Proteogenomic annotation of T6SS components identified in Bacteroides fragilis secretome by Natalya B. Zakharzhevskaya, Olga Yu Shagaleeva, Daria A. Kashatnikova, Daria A. Kashatnikova, Anton O. Goncharov, Anton O. Goncharov, Daria V. Evsyutina, Dmitry A. Kardonsky, Elizaveta A. Vorobeva, Artemiy S. Silantiev, Viktoria D. Kazakova, Irina V. Kolesnikova, Ivan O. Butenko, Anna A. Vanyushkina, Svetlana V. Smirnova, Andrei V. Chaplin, Andrei V. Chaplin, Boris A. Efimov, Boris A. Efimov

Get full text

Distinct plasmablast developmental intermediates produce graded expression of IgM secretory transcripts by Evelyn P. Sievert, Marissa C. Franke, Kayla B. Thomas, Yoseop Yoon, Yongsheng Shi, Roger Sciammas

Get full text

Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study by Kelly E. Ormond, Caroline Stanclift, Chloe M. Reuter, Jennefer N. Carter, Kathleen E. Murphy, Malene E. Lindholm, Matthew T. Wheeler

Get full text

Bergapten alleviates senescence of chondrocytes in osteoarthritis by YE Yuanlan, LIU Kaiwen, PAN Yiming

Get full text

Nourishing change in Houston, Texas: exploring grocery shopping behaviours and fruit and vegetable consumption among low-income families in the Brighter Bites program by Victoria Kwentua, Allison Marshall, Ru-Jye Chuang, Jessica Chen, Christine Markham, Mallika Mathur, Mike Pomeroy, Megan Hall, Shreela Sharma

Get full text