Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature by Francesca Torresan, Maurizio Iacobone

“…HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 (CDC73) gene that encodes the parafibromin, a 531-amino acid protein with antiproliferative activity. …”
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Multi-modal comparison of molecular programs driving nurse cell death and clearance in Drosophila melanogaster oogenesis. by Shruthi Bandyadka, Diane P V Lebo, Albert A Mondragon, Sandy B Serizier, Julian Kwan, Jeanne S Peterson, Alexandra Y Chasse, Victoria K Jenkins, Anoush Calikyan, Anthony J Ortega, Joshua D Campbell, Andrew Emili, Kimberly McCall

“…In preparation for oviposition, the germline-derived nurse cells bequeath to the developing oocyte all their cytoplasmic contents and undergo programmed cell death. …”
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Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing by Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu

“…Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. …”
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Spatial Transcriptome and Single Nucleus Transcriptome Sequencing Reveals Tetrahydroxy Stilbene Glucoside Promotes Ovarian Organoids Development Through the Vegfa‐Ephb2 Pair by Chunlan Mu, Xiaoyong Li, Jiamei Yang, Geng G. Tian, Hepeng Bai, Wenhui Lin, Linhui Wang, Ji Wu

“…Here, plant‐derived compounds are screened for in vitro activity upon ovarian organoids derived from feeder‐free female germline stem cells. Tetrahydroxy stilbene glucoside (TSG) is found to promote the development of ovarian organoids. …”
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Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice. by Yuting Sun, Tingyu Zhou, Silin Ye, Effie Yin Tung Lau, Yao Zeng, Jessie Qiaoyi Liang

“…Apcmin/+ mice, which harbour a germline Apc mutation (g.2549T>A) associated with multiple intestinal neoplasms, are extensively employed in colorectal cancer research. …”
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Frequency and Significance of Abnormal Pancreatic Imaging in Patients with BRCA1 and BRCA2 Genetic Mutations by Elie Chahla, Antonio Cheesman, Suzanne M. Mahon, Robert W. Garrett, Ben P. Bradenham, Theresa L. Schwartz, Louay Omran, Jason R. Taylor, Samer Alkaade

“…Although the majority of cases are believed to occur sporadically, about 10% show familial clustering and studies have identified an increased frequency of BRCA germline mutations. The role of screening for pancreatic adenocarcinoma in these populations is unclear. …”
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

“…Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. …”
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Cell Therapy for Chemically Induced Ovarian Failure in Mice by Paula Terraciano, Tuane Garcez, Laura Ayres, Isabel Durli, Melchiani Baggio, Cristiana Palma Kuhl, Claudia Laurino, Eduardo Passos, Ana Helena Paz, Elizabeth Cirne-Lima

“…For cell tracking, adipose derived stem cell GFP+ (ADSC), female germline stem cell GFP+/MVH+ (FGSC), or ovary cell suspension GFP+ mice were transplanted into cisplatin-treated wild-type recipients. …”
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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

“…Moreover, mutations in epigenes have been implicated as causal in germline pediatric disorders and as driver mutations in cancer. …”
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Radiation-induced impacts on mitochondrial DNA and the transgenerational genomic instability by Ryosuke Seino, Haruka Kubo, Kai Nishikubo, Hisanori Fukunaga

“…Background: Mitochondrial genomes are dynamically evolving and are shaped by somatic mutation and selection throughout the female germline. In this study, we investigated the radiation-induced impacts on mitochondrial DNA in vitro and in vivo, as well as the transgenerational inheritance. …”
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<i>Weizmannia coagulans</i> BC99 Attenuates Oxidative Stress Induced by Acute Alcoholic Liver Injury via Nrf2/SKN-1 Pathway and Liver Metabolism Regulation by Ying Wu, Cheng Li, Yinyin Gao, Jie Zhang, Yao Dong, Lina Zhao, Yuwan Li, Shaobin Gu

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Pheochromocytoma in Congenital Cyanotic Heart Disease by Carmen Aresta, Gianfranco Butera, Antonietta Tufano, Giorgia Grassi, Livio Luzi, Stefano Benedini

“…The patient underwent left open adrenalectomy after preconditioning with α- and β-blockers and histopathological examination confirmed the diagnosis of pheochromocytoma (Ki-67<5%). Screening for germline mutations did not show any genes mutation (investigated mutations: RET, TMEM127, MAX, SDHD, SDHC, SDHB, SDHAF2, SDHA, and VHL). …”
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Regulation of NK cell development, maturation, and antitumor responses by the nuclear receptor NR2F6 by Johannes Woelk, Florian Hornsteiner, Stephanie Aschauer-Wallner, Patrizia Stoitzner, Gottfried Baier, Natascha Hermann-Kleiter

“…Despite normal NK cell development in the bone marrow, germline Nr2f6-deficient mice exhibit impaired terminal maturation of NK cells in the periphery. …”
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Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6 by Blaine A. Bates, Kylee E. Bates, Spencer A. Boris, Colin Wessman, David Stone, Justin Bryan, Mary F. Davis, Matthew H. Bailey

“…Summary: Using rare cancer predisposition alleles derived from The Cancer Genome Atlas (TCGA) and high cancer prevalence (14% of participants) in All of Us (version 6), we assessed the impact of these rare alleles on cancer occurrence in six broad groups of genetic similarity provided by All of Us: African/African American (AFR), Admixed American/Latino (AMR), East Asian (EAS), European (EUR), Middle Eastern (MID), or South Asian (SAS). We observed that germline susceptibility to cancer consistently replicates in EUR-like participants but less so in other participants. …”
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Diagnosis and treatment of thyroblastoma: a case report and review of literature by Xiting Chen, Xiting Chen, Lijuan Xiong, Lijuan Xiong, Hongling Liu, Haoqiang Wang, Donghai Cheng, Wei Wang, Wenyuan He, Bo Xie, Juan Zhou

“…Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. …”
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A case of de novo neuroendocrine prostate cancer presented with elevated level of serum CEA carrying BRCA2 mutation: case report and literature review by Weizhe Han, Nihati Rexiati, Fang Yu, Yongzhi Wang, Yueli Tian, Jianyuan Wu, Gang Wang, Tao Liu, Zhonghua Yang

“…Immunohistochemistry (IHC) staining and next generation sequencing demonstrated a strong expression of chromogranin A (CgA), synaptophysin (SYN) and CEA, and a germline mutation in BRCA2, respectively. After a prostatic massage, an increased level of CEA (137 ng/ml vs 5 ng/ml) was detected in urine. …”
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A novel strategy for the protective effect of ginsenoside Rg1 against ovarian reserve decline by the PINK1 pathway by Pengdi Yang, Meiling Fan, Ying Chen, Dan Yang, Lu Zhai, Baoyu Fu, Lili Zhang, Yanping Wang, Rui Ma, Liwei Sun

“…Protein expression levels in the PINK1/Parkin pathway were assessed, and molecular docking and PINK1 mutant analyses were conducted to identify potential targets.Results Ginsenoside Rg1 significantly mitigated ovarian reserve decline, enhancing offspring quantity and quality, increasing the levels of ecdysteroids, preventing ovarian atrophy, and elevating germline stem cell numbers in aged Drosophila. Ginsenoside Rg1 improved superoxide dismutase, catalase activity, and gene expression while reducing reactive oxygen species levels. …”
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CRISPR-Cas9 in Cardiovascular Medicine: Unlocking New Potential for Treatment by Klaudia Bonowicz, Dominika Jerka, Klaudia Piekarska, Janet Olagbaju, Laura Stapleton, Munirat Shobowale, Andrzej Bartosiński, Magdalena Łapot, Yidong Bai, Maciej Gagat

“…This article also explores the ethical and regulatory considerations surrounding gene editing technologies, emphasizing the implications of somatic versus germline modifications. Future research efforts should aim to enhance the accuracy of CRISPR-Cas9, improve delivery systems for targeted tissues, and ensure the safety and efficacy of treatments in the long term. …”
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Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer by Angelica Nogueira Rodrigues, Andreza Karine de Barros Almeida Souto, Diocésio Alves Pinto de Andrade, Larissa Müller Gomes, Sandra Satie Koide, Renata de Godoy e Silva, Bruno Batista de Souza, Juliana Doblas Massaro, Andréia Cristina de Melo, Andrea Morais Borges, Camila Giro, Carlos Augusto Vasconcelos de Andrade, Cesar Martins da Costa, Daniel Luiz Gimenes, Eduardo Caminha Bandeira de Mello, Fernanda Cesar de Oliveira, Frederico Müller de Toledo Lima, Gabriel Lima Lopes, Gustavo de Oliveira Bretas, Gustavo Guerra Jacob, Herika Lucia da Costa Silva, Juliana Ferrari Notaro, Lara Ladislau Alves, Marcos Veloso Moitinho, Mirian Cristina da Silva, Roberto Abramoff, Thais Amaral da Cunha Rauber, Rodrigo Dienstmann, Fernanda Christtanini Koyama

“…Approximately 50% of high-grade serous ovarian cancers exhibit HRD, even in the absence of germline or somatic BRCA1/2 loss-of-function mutations. …”
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