The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

“…We outline the evidence supporting the pathogenic role of SH2B3 p.E395K germline mutation, connecting the dots of association between autoimmune diseases and CMML genesis.…”
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Immune checkpoint inhibitor associated lichenoid dermatitis mimicking erythema multiforme major with a germline variant in human leukocyte antigen-B15 by Sach Thakker, BS, Alexis Antonucci, BS, Amin Benyounes, MD, Blair S. Allais, MD

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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma by Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu

“…Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. …”
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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion by Carlotta Giani, Teresa Ramone, Cristina Romei, Raffaele Ciampi, Alessia Tacito, Laura Valerio, Laura Agate, Clara Ugolini, Michele Marinò, Fulvio Basolo, Alessandro Franchi, Simona Borsari, Angela Michelucci, Cesare Selli, Gabriele Materazzi, Filomena Cetani, Rossella Elisei

“…The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. …”
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Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients by A. S. Tsukanov, N. I. Pospehova, V. P. Shubin, I. Yu. Sachkov, S. N. Zhdankina, A. A. Ponomarenko, E. G. Rybakov, S. I. Achkasov, V. N. Kashnikov, S. A. Frolov, Yu. A. Shelygin

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Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large‐scale rearrangement for the diagnosis of cancer predisposition by Sandy Chevrier, Corentin Richard, Marie Mille, Denis Bertrand, Romain Boidot

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Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersResearch in context by Pedro A.F. Galante, Gabriela D.A. Guardia, Janina Pisani, Renata L. Sandoval, Mateus C. Barros-Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo F.C. Patrão, Patricia Ashton-Prolla, Vitor Fiorin de Vasconcellos, Claire Freycon, Arnold Levine, Pierre Hainaut, Maria Isabel Achatz

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Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial by Mélanie Godiveau, Mélanie Godiveau, Mélanie Godiveau, Angeline Ginzac, Angeline Ginzac, Angeline Ginzac, Yannick Bidet, Yannick Bidet, Flora Ponelle-Chachuat, Flora Ponelle-Chachuat, Maud Privat, Maud Privat, Xavier Durando, Xavier Durando, Xavier Durando, Xavier Durando, Mathias Cavaillé, Mathias Cavaillé, Mathis Lepage, Mathis Lepage

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Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population by Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores

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PIWI proteins and piRNAs: key regulators of stem cell biology by Fernando Claro-Linares, Patricia Rojas-Ríos

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Germline Human Leukocyte Antigen Status is Associated With Immunotherapy-Induced Pneumonitis and Treatment Response in Patients With Non–Small Cell Lung Cancer With High Programmed Death-Ligand 1 Expression by Alvin H.K. Cheung, MBBS, PhD, Zeta Mui, MPhil, Walter W. Yeung, PhD, Chit Chow, PhD, Mandy F. Yu, BSc, Olivia H. Chen, MD, PhD, Kit-Yee Wong, MPhil, Fuda Xie, MPhil, Yat Ming Lau, MBBS, Alfred S-L. Cheng, PhD, Wei Kang, PhD, Ka-Fai To, MBChB, Tony S. Mok, MD, Molly S.C. Li, MBBS

“…Results: It was observed that the germline HLA-C homozygosity and HLA-DRB1∗13 expression were related to a worse progression-free survival and treatment response. …”
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Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis by Qin Ying Lim, Qin Ying Lim, Daniel Leung, Crystal K. Lam, Xingtian Yang, Kai N. Cheong, Kai N. Cheong, Andrew K. H. Yik, Jing Yang, Koon-Wing Chan, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Miyuki Tsumura, Elaine Y. L. Au, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Satoshi Okada, Yu Lung Lau, Yu Lung Lau, Yu Lung Lau

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Germline Single-Nucleotide Polymorphism <i>GFI1-36N</i> Causes Alterations in Mitochondrial Metabolism and Leads to Increased ROS-Mediated DNA Damage in a Murine Model of Human Acute Myeloid Leukemia by Jan Vorwerk, Longlong Liu, Theresa Helene Stadler, Daria Frank, Helal Mohammed Mohammed Ahmed, Pradeep Kumar Patnana, Maxim Kebenko, Eva Dazert, Bertram Opalka, Nikolas von Bubnoff, Cyrus Khandanpour

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DeepDrug as an expert guided and AI driven drug repurposing methodology for selecting the lead combination of drugs for Alzheimer’s disease by Victor O. K. Li, Yang Han, Tushar Kaistha, Qi Zhang, Jocelyn Downey, Illana Gozes, Jacqueline C. K. Lam

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Bayesian analysis of the rate of spontaneous malignant mesothelioma among BAP1 mutant mice in the absence of asbestos exposure by Dahlia M. Nielsen, Mei Hsu, Michael Zapata, Giovanni Ciavarra, Leonel van Zyl

“…Our Bayesian analyses indicate that the odds of spontaneous MM among germline BAP1 mutant mice is substantially larger than that of wildtype mice. …”
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The piRNA protein Asz1 is essential for germ cell and gonad development in zebrafish and exhibits differential necessities in distinct types of germ granules. by Adam Ahmad, Yoel Bogoch, Gal Shvaizer, Noga Guler, Karine Levy, Yaniv M Elkouby

“…However, the regulation of RNP assemblies in zebrafish germline development are still poorly understood. Asz1 is a piRNA protein in Drosophila and mice. …”
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Diversification and recurrent adaptation of the synaptonemal complex in Drosophila. by Rana Zakerzade, Ching-Ho Chang, Kamalakar Chatla, Ananya Krishnapura, Samuel P Appiah, Jacki Zhang, Robert L Unckless, Justin P Blumenstiel, Doris Bachtrog, Kevin H-C Wei

“…Surprisingly, the expression of SC genes in the germline is prone to change suggesting recurrent regulatory evolution which, in many species, resulted in high testes expression even though Drosophila males are achiasmic. …”
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A retrospective single-center pilot study of the genetic background of the transplanted kidney. by Anna Novotna, Klara Horackova, Jana Soukupova, Petra Zemankova, Petr Nehasil, Pavel Just, Ludek Voska, Petra Kleiblova, Silvie Rajnochova Bloudickova

“…<h4>Conclusion</h4>RCC of the transplanted kidney is very rare. Germline cancer-predisposition testing has identified several variants of uncertain significance, but no germline genetic predisposition to graft RCC in KTR. …”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. …”
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Insulin signaling regulates R2 retrotransposon expression to orchestrate transgenerational rDNA copy number maintenance by Jonathan O. Nelson, Alyssa Slicko, Amelie A. Raz, Yukiko M. Yamashita

“…Abstract Preserving a large number of essential yet highly unstable ribosomal DNA (rDNA) repeats is critical for the germline to perpetuate the genome through generations. …”
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