Heterozygous mutation in BRCA2 induces accelerated age-dependent decline in sperm quality with male subfertility in rats by Yashiro Motooka, Hideaki Tanaka, Yuki Maeda, Misako Katabuchi, Tomoji Mashimo, Shinya Toyokuni

“…Exon 11 constitutes a region where pathogenic variants (PVs) accumulate, and mutations in this region are known to contribute to carcinogenesis. …”
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Estimation of TP53 mutations for endometrial cancer based on diffusion-weighted imaging deep learning and radiomics features by Lei Shen, Bo Dai, Shewei Dou, Fengshan Yan, Tianyun Yang, Yaping Wu

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A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome by Karen Wong, Yousef Barbin, Subrata Chakrabarti, Paul Adams

“…The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA known as the iron-responsive element (IRE). …”
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Migration and mutation (MeTa) hybrid trained ANN for dynamic spectrum access in wireless body area network by Geoffrey Eappen, Shankar T, Rajesh A

“…This limitation serves as the motivation for proposing the migrated and mutation (MeTa) hybrid optimization algorithm, which trains artificial neural networks (ANN) for efficient spectrum sensing. …”
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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing by Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

“…In addition, in populations with strong founder mutations, a limited test using Sanger sequencing and MLPA will be a cost-effective alternative. …”
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Late Emergence of an Imatinib-Resistant ABL1 Kinase Domain Mutation in a Patient with Chronic Myeloid Leukemia by Mireille Crampe, Claire Andrews, Anne Fortune, Stephen E. Langabeer

“…The introduction of the tyrosine kinase inhibitor (TKI) imatinib has revolutionised the outlook of chronic myeloid leukemia (CML); however, a significant proportion of patients develop resistance through several mechanisms, of which acquisition of ABL1 kinase domain mutations is prevalent. In chronic-phase patients, these mutations become evident early in the disease course. …”
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Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature by Qurratulain Rizvi, Uzma Zaidi, Saba Shahid, Shariq Ahmed, Tahir Shamsi

“…Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. …”
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Allografting for Bosutinib, Imatinib, Nilotinib, Dasatinib, and Interferon Resistant Chronic Myeloid Leukemia without ABL Kinase Mutation by B. Uz, O. Bektas, E. Eliacik, H. Goker, Y. Erbilgin, M. Sayitoglu, N. Sayinalp, S. Aksu, Y. Buyukasik, O. Ozcebe, I. C. Haznedaroglu

“…The striking point of this case story is that no Abl kinase domain mutation against TKIs has been detected during this very complicated disease course of CML. …”
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Occult Hepatitis B Infection among Hemodialysis Patients in Tabriz, Northwest of Iran: Prevalence and Mutations within the S Region by Narges Eslami, Vahdat Poortahmasebi, Javid Sadeghi, Reza Ghotaslou, Bahram Niknafs, Hossein Bannazadeh Baghi, Mahin Ahangar Oskouee

“…Following the phylogenetic analysis, the samples with OBI roughly belonged to genotype D, subtype ayw2 and only two had mutations within the S ’gene’s major hydrophilic region (MHR), including T123I, C124F, and P127T. …”
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Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation by Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

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Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60 by Lisa Rizzetto, Elena Zanni, Daniela Uccelletti, Ileana Ferrero, Paola Goffrini

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The Frequency of Epidermal Growth Factor Receptor Mutation of Nonsmall Cell Lung Cancer according to the Underlying Pulmonary Diseases by Kazuhiro Usui, Tomonori Ushijima, Yoshiaki Tanaka, Chiharu Tanai, Hiromichi Noda, Norifumi Abe, Hajime Horiuchi, Teruo Ishihara

“…The selection of chemotherapy based on the EGFR mutation status is recommended, however, the frequency of EGFR mutation in patients with ILD and the efficacy and safety of EGFR-TKI in patients with ILD and EGFR mutation are unknown. …”
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The diagnostic accuracy of circulating free DNA for the detection of KRAS mutation status in colorectal cancer: A meta‐analysis by Wenli Xie, Li Xie, Xianrang Song

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Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

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Durable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report by Meghan M Lynch, Pedro Hermida-Viveiros, Sean Stencel, Hannah Knott, Rusul Al-Maryati, Farres Obeidin, Borislav A Alexiev, Susan Abbinanti, Senthil Damodaran, Mark Agulnik, Seth M Pollack

“…This case highlights the potential of targeted therapies such as copanlisib for treating METAM, providing a promising therapeutic option for patients with PIK3CA mutations.…”
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A mutation in LXRα uncovers a role for cholesterol sensing in limiting metabolic dysfunction-associated steatohepatitis by Alexis T. Clark, Lillian Russo-Savage, Luke A. Ashton, Niki Haghshenas, Nicolas A. Amselle, Ira G. Schulman

“…We have generated mice with a mutation in LXRα that reduces activity in response to endogenous cholesterol derived LXR ligands while still allowing transcriptional activation by synthetic agonists. …”
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Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report by Oliver Stelzig, Beatrix Mühlegger, Anna Zschocke, Ursula Kiechl-Kohlendorfer, Elke Griesmaier

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A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report by Yezi Huang, Lixia Zhou, Yuan Song, Wanting Zou, Aiping Tang, Si Tao, Duozhuang Tang

“…This report highlights a cTTP caused by a compound heterozygous ADAMTS13 mutation, although its pathogenesis requires further investigation. …”
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A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa by Pragya Shrestha, Geetika Sabharwal, Gisoo Ghaffari

“…We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.…”
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Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

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