Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome by Chandrika Jayakanthi Subasinghe, Noel Somasundaram, Pathmanathan Sivatharshya, Lalana Devi Ranasinghe, Márta Korbonits

“…Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in MEN1 gene, characterized by tumours in endocrine and nonendocrine organs. …”
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Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma in the Same Patient as a Collision Tumour by Oguz Dikbas, Aslihan Alpaslan Duman, Gulname Findik Guvendi

“…This is a collision tumour since lesions with features of MTC and PTC were detected in two different locations and separated by normal thyroid tissue. Germline point mutation of the RET gene had a potential role in the development of both MTC and PTC. …”
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B-CD8+ T Cell Interactions in the Anti-Idiotypic Response against a Self-Antibody by Darel Martínez, Amaury Pupo, Lianet Cabrera, Judith Raymond, Nichol E. Holodick, Ana María Hernández

“…P3 is a murine, germline, IgM mAb that recognizes N-glycolylated gangliosides and other self-antigens. …”
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Vaccines for cancer interception in familial adenomatous polyposis by David E. Johnson, Mary L. Disis

“…Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder caused by germline mutations in the adenomatous polyposis coli (APC) gene. …”
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DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology by Consolato M. Sergi, Fabrizio Minervini

“…In fact, genetic mutations (somatic and germline) have been detected in <i>DICER1</i> and are genetically associated with at least two clinical syndromes: DICER1 syndrome and GLOW syndrome. …”
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Transcriptome analysis of testis in response to silencing of Piwi2 sheds light on spermatogenesis in the mud crab Scylla paramamosain by Tao Wang, Li Lu, Fang Liu, An Liu, Haihui Ye

“…Piwi proteins act in interaction with piRNAs to influence germline development in a variety of organisms. Nevertheless, to date, there is limited studies have been documented regarding the function of Piwis in crustaceans. …”
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The Nod2 Agonist Muramyl Dipeptide Cooperates with the TLR4 Agonist Lipopolysaccharide to Enhance IgG2b Production in Mouse B Cells by Sang-Hoon Lee, Jong-Hwan Park, Seok-Rae Park

“…Moreover, MDP enhanced LPS-induced IgG2b production, germline γ2b transcript (GLTγ2b) expression, and surface IgG2b expression. …”
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Characteristic craniofacial defects associated with a novel USP9X truncation mutation by Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

“…Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. …”
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Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation by Olga Astapova, Anindita Biswas, Alessandra DiMauro, Jacob Moalem, Stephen R. Hammes

“…Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL gene, is characterized by metachronously occurring tumors including pheochromocytoma, renal cell carcinoma (RCC), and hemangioblastoma. …”
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TopoQual polishes circular consensus sequencing data and accurately predicts quality scores by Minindu Weerakoon, Sangjin Lee, Emily Mitchell, Haynes Heaton

“…Currently, the accuracy and quality value estimation provided by HiFi technology are more than sufficient for applications such as genome assembly and germline variant calling. However, there are limitations in the accuracy of the estimated quality scores when it comes to somatic variant calling on single reads. …”
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Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study by Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa

“…We performed sequencing and copy number assays in a clinical laboratory and analyzed the clinical data of 44 patients with suspected NF1. Germline pathogenic variants were detected in 36 patients (81.8%), and 20.7% of the variants were novel. …”
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Search for clinical, genetic, morphological and immunohistochemical predictors of parathyroid cancer recurrence by Ekaterina I. Kim, Anna K. Eremkina, Alina R. Elfimova, Natalia G. Mokrysheva

“…We did not reveal any associations between disease recurrence and sex, age, volume of surgical treatment, germline mutation in the CDC73, parafibromin expression and Ki-67 in tumor tissue. …”
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Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate by Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue Li

“…Results The TSC1-TSC2 complex plays a crucial role in various stem cells, such as neural, germline, nephron progenitor, intestinal, hematopoietic, and mesenchymal stem/stromal cells, primarily through the mTOR signaling pathway. …”
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Expression Profiling of Proliferation and Apoptotic Markers along the Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis Patients by Jayson Wang, Nabil El-Masry, Ian Talbot, Ian Tomlinson, Malcolm R. Alison, Mona El-Bahrawy

“…Familial adenomatous polyposis (FAP) patients have a germline mutation in the adenomatous polyposis coli (APC) gene. …”
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Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation by Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo

“…Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. …”
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Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study by Giulia Magnani, Daniela Furlan, Nora Sahnane, Luca Reggiani Bonetti, Federica Domati, Monica Pedroni

“…Thirty-three patients ≤40 years with diagnosis of colorectal cancer and 41 patients with disease at >60 years of age were investigated for MSI, Mismatch Repair proteins expression, KRAS and BRAF mutations, hypermethylation, and LINE-1 hypomethylation. Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. …”
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Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome by Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz

“…Among the 69 MGPT-negative patients, the lack of somatic MLH1 promoter methylation in a patient with a distinguished MLH1 allelic imbalance selected this sample for WGS. This returned a germline deep intronic MLH1 variant, with further functional studies confirming its’ pathogenicity. …”
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Lack of GAGA protein in Trl mutants causes massive cell death in Drosophila spermatogenesis and oogenesis by N. V. Dorogova, A. E. Zubkova, E. V. Fedorova, E. U. Bolobolova, E. M. Baricheva

“…One of the significant disorders was associated with massive degradation and loss of cells in the germline. In this work, we carried out a more detailed cytological study to determine what type of germ cell death is characteristic of Trl mutants, and whether there are disturbances or changes in this process compared to the norm. …”
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Analysis of somatic piRNAs in the malaria mosquito Anopheles coluzzii reveals atypical classes of genic small RNAs by Sergei Funikov, Alexander Rezvykh, Natalia Akulenko, Jiangtao Liang, Igor V. Sharakhov, Alla Kalmykova

“…Piwi-interacting small RNAs (piRNA) play a key role in controlling the activity of transposable elements (TEs) in the animal germline. In diverse arthropod species, including the pathogen vectors mosquitoes, the piRNA pathway is also active in nongonadal somatic tissues, where its targets and functions are less clear. …”
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Structurally convergent antibodies derived from different vaccine strategies target the influenza virus HA anchor epitope with a subset of VH3 and VK3 genes by Ting-Hui Lin, Chang-Chun David Lee, Monica L. Fernández-Quintero, James A. Ferguson, Julianna Han, Xueyong Zhu, Wenli Yu, Jenna J. Guthmiller, Florian Krammer, Patrick C. Wilson, Andrew B. Ward, Ian A. Wilson

“…Despite some diversity in their VH and VK genes, the antibodies interact with the HA through germline-encoded residues in HCDR2 and LCDR3. Somatic mutations on HCDR3 also contribute hydrophobic interactions with the conserved HA epitope. …”
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