46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.…”
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Case Report: A case of Tatton-Brown–Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene by Zhong-jiao Xu, Ru-ming Shen, Wu-ming Hu, Lin-chun Lv, Zhen-hua Shi, Li Lin

“…High-throughput sequencing revealed a specific mutation in the DNMT3A gene (NM_175629.2:c.2408 + 1G > A) associated with Tatton-Brown–Rahman syndrome. …”
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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation by Nivedita U. Jerath

“…Valosin containing protein (VCP) mutations have been reported to present with a high degree of variability and can be present in patients even if they may have an initial normal work up. …”
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Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling [version 2; peer review: 2 approved, 1 approved with reservations] by K. Anton Feenstra, Akiko Higuchi, Kei Yura, Sanne Abeln, Halima Mouhib

“…In comparison, predictions from SIFT and PolyPhen only provided an impression of the impact upon mutation in the highly conserved RXGRR motifs, but yielded no clear differentiation between pathogenic and non-pathogenic mutations.  …”
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Appearance of L90I and N205S Mutations in Effector Domain of NS1 Gene of pdm (09) H1N1 Virus from India during 2009–2013 by Sachin Kumar, Shashi Khare, Bano Saidullah, Inderjeet Gandhoke, Hanu Ram, Supriya Singh, L. S. Chauhan, Arvind Rai

“…The sequencing of NS gene was undertaken in order to determine the changes/mutations taking place in the NS gene of A H1N1 pdm (09) since its emergence in 2009. …”
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The economy of digital contact in the conditions of geomarkets transformation by T. M. Rogulenko, R. S. Blizkiy, Z. Gong

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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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Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples by Nicola Cosgrove, Orla M. Fitzpatrick, Orla M. Fitzpatrick, Liam Grogan, Liam Grogan, Bryan T. Hennessy, Bryan T. Hennessy, Simon J. Furney, Sinead Toomey

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Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature by Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai

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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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An overview of hereditary spherocytosis and the curative effects of splenectomy by Kyril Turpaev, Elizaveta Bovt, Elizaveta Bovt, Soslan Shakhidzhanov, Soslan Shakhidzhanov, Elena Sinauridze, Elena Sinauridze, Nataliya Smetanina, Larisa Koleva, Larisa Koleva, Nikita Kushnir, Nikita Kushnir, Anna Suvorova, Fazoil Ataullakhanov, Fazoil Ataullakhanov, Fazoil Ataullakhanov

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Clinicopathological and molecular analyses of uterine carcinosarcomas using next-generation sequencing: A single-center experience by Ezgi Genç Erdoğan, Tülin D. Yalta, Nuray Can, Necdet Süt, Ebru Taştekin, Ufuk Usta, Fulya Öz Puyan, Fatma E. Usturalı Keskin, Busem B. Kurt

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Clinical and molecular characterisation of children with monogenic obesity: a case series by Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand, Sayan Banerjee, Inusha Panigrahi, Devi Dayal

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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications by Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan G. Preston, Sharelle Joseland, Bernard J. Pope, Ana B.D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung K. Win, John L. Hopper, Mark A. Jenkins, Giovana T. Torrezan, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, Peter Georgeson

Subjects: “…Mutational signature…”
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Afatinib and Necitumumab in EGFR-Mutant NSCLC with Acquired Resistance to Tyrosine Kinase Inhibitors by Nathaniel J. Myall, MD, Jennifer G. Whisenant, PhD, Joel W. Neal, MD, PhD, Wade T. Iams, MD, Karen L. Reckamp, MD, Sally York, MD, PhD, Lynne D. Berry, PhD, Yu Shyr, PhD, Leora Horn, MD, Heather A. Wakelee, MD, Sukhmani K. Padda, MD

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Développement d’un tourisme domestique en montagne à proximité des grandes villes du Népal : versant sud de l’Annapurna et Helambu by Pierre Dérioz, Pranil Upadhayaya, Philippe Bachimon, Maud Loireau

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Integration of bulk and single-cell RNA-seq reveals prognostic gene signatures in patients with bladder cancer treated with immune checkpoint inhibitors by Mina Cho, Hyun Chang, Ju Han Kim

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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

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Viral hepatitis B epidemiology in Sakha republic (Yakutia) by S. I. Semenov, R. G. Savvin, S. G. Nikitina, S. S. Maksimova, V. G. Krivoshapkin, S. S. Sleptsova

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A rare case of vision loss caused by leptomeningeal metastasis of lung adenocarcinoma: a case report and literature review by Zhihua Li, Jian Chu, Wennan Shen, Junnan Chen, Yuemei Dong, Manze Zhang, Nan Zhao, Wei Zhao, Haoran Zha, Ning Wang, Yalin Han, Zhaoxia Li

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