Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant by Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama

“…Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. …”
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Human Endogenous Retroviruses and Their Putative Role in Pathogenesis of Alzheimer’s Disease, Inflammation, and Senescence by Patrycja Kozubek, Julia Kuźniar, Magdalena Czaja, Hanna Sitka, Urszula Kochman, Jerzy Leszek

“…The human endogenous retroviruses (HERVs) are ancient exogenous retroviruses that were embedded in the germline over 30 million years ago and underwent an endogenization process. …”
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Label-Free Surface-Enhanced Raman Scattering for Genomic DNA Cytosine Methylation Reading by Kazi Morshed Alom, Anastasiia Tukova, Nana Lyu, Alison Rodger, Yuling Wang

“…The method was applied to determine the hypermethylated levels of the germline of colorectal cancer cell lines SW48 and SW480. …”
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A synchronous occurrence of breast cancer and pleural mesothelioma: a case report by Zaheer Ahmad, Hashir Jehanzeb, Saad Noor Hussain, M. Umar, Humna Saleem

“…While breast cancer can be linked with other primary malignancies through germline mutations, the synchronous occurrence of breast cancer with pleural mesothelioma is extremely rare. …”
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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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Enhancing precision in cancer treatment: the role of gene therapy and immune modulation in oncology by Emile Youssef, Brandon Fletcher, Dannelle Palmer

“…However, ethical considerations surrounding CRISPR-based gene editing—such as off-target effects, germline editing, and ensuring equitable access—remain at the forefront, requiring ongoing ethical oversight. …”
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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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RNA polymerase II-mediated rDNA transcription mediates rDNA copy number expansion in Drosophila. by George J Watase, Yukiko M Yamashita

“…Akin to telomere maintenance, rDNA maintenance is particularly important in cell types that proliferate for an extended time period, most notably in the germline that passes the genome through generations. …”
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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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