Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature by B. Wormald, S. Elorbany, H. Hanson, J. W. Williams, S. Heenan, D. P. J. Barton

“…Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. …”
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Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort by Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno

“…Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. …”
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A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects by Kuan-Ru Chen, Han-Yu Wang, Han-Yu Wang, Yung-Che Kuo, Yu-Chih Lo, Pao-Lin Kuo, Pao-Lin Kuo, Pao-Lin Kuo

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Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas by E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva

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The evolutionarily diverged single-stranded DNA-binding proteins SSB1/SSB2 differentially affect the replication, recombination and mutation of organellar genomes in Arabidopsis thaliana by Weidong Zhu, Jie Qian, Yingke Hou, Luke R. Tembrock, Liyun Nie, Yi-Feng Hsu, Yong Xiang, Yi Zou, Zhiqiang Wu

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Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! by К.Y. Pashenko, Т.V. Frolova, Y.V. Кarpushenko, G.R. Muratov, О.М. Savvo, Т.О. Khalturina, О.М. Ashcheulov

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Modelul şi oglinda. E. Lovinescu „par lui même” by Antonio Patraș

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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

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Simulated annealing on uncorrelated energy landscapes by Ben Goertzel, Malwane Ananda

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Ganciclovir Resistance-Linked Mutations in the HCMV <i>UL97</i> Gene: Sanger Sequencing Analysis in Samples from Transplant Recipients at a Tertiary Hospital in Southern Brazil by Anna Caroline Avila da Rocha, Grazielle Motta Rodrigues, Alessandra Helena da Silva Hellwig, Dariane Castro Pereira, Fabiana Caroline Zempulski Volpato, Afonso Luís Barth, Fernanda de-Paris

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Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

Subjects: “…ABCA12 mutation…”
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SOCS2 inhibits the tumorigenesis of GISTs and increases the sensitivity of GISTs to imatinib by suppression of KIT activation by Liangying Zhang, Kun Xiao, Shaoting Zhang, Sien Zhao, Zimei Liu, Ming Wang, Kaiyue Qin, Yuanyuan Yu, Shujing Li, Lijun Ma, Jianmin Sun

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Comparison of the Genetic Alterations between Primary Colorectal Cancers and Their Corresponding Patient-Derived Xenograft Tissues by Sang Mi Yu, Seung-Hyun Jung, Yeun-Jun Chung

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Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation by A. L. M. J. van der Knijff-van Dortmont, M. Dirckx, J. J. Duvekot, J. W. Roos-Hesselink, A. Gonzalez Candel, C. D. van der Marel, G. P. Scoones, V. F. R. Adriaens, I. J. J. Dons-Sinke

“…SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. …”
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The Investigation of HBV Pre-S/S Gene Mutations in Occult HBV Infected Blood Donors with anti-HBs Positive by Yan Guo, Yu Lan, Yuanyuan Jing, Bin Cai, Hanshi Gong, Yixin Zhang, Yong Duan

“…These results suggested that the mutations might occur randomly and were not selected by antibody pressure.…”
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Multiomics approach identifies dysregulated lipidomic and proteomic networks in Parkinson’s disease patients mutated in TMEM175 by Federica Carrillo, Marco Ghirimoldi, Giorgio Fortunato, Nicole Piera Palomba, Laura Ianiro, Veronica De Giorgis, Shahzaib Khoso, Tiziana Giloni, Sara Pietracupa, Nicola Modugno, Elettra Barberis, Marcello Manfredi, Teresa Esposito

“…Altogether, these data provide novel insights into the molecular and metabolic alterations underlying TMEM175 mutations and may be relevant for PD prediction, diagnosis and treatment.…”
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Changement climatique et atrophie des masses glaciaires : quelles mutations pour les paysages islandais ? by Marie Chenet, Erwan Roussel

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A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy by Abdelbaset Mohamed Elasbali, Farah Anjum, Osama A. AlKhamees, Waleed Abu Al-Soud, Mohd Adnan, Anas Shamsi, Md. Imtaiyaz Hassan

Subjects: “…deleterious mutations…”
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HELLP Syndrome and Cerebral Venous Sinus Thrombosis Associated with Factor V Leiden Mutation during Pregnancy by Zeynep Ozcan Dag, Yuksel Işik, Yavuz Simsek, Ozlem Banu Tulmac, Demet Demiray

“…Factor 5 leiden (FVL) is a procoagulant mutation associated primarily with venous thrombosis and pregnancy complications. …”
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Mutation Analysis of Synthetic DNA Barcodes in a Fission Yeast Gene Deletion Library by Sanger Sequencing by Minho Lee, Shin-Jung Choi, Sangjo Han, Miyoung Nam, Dongsup Kim, Dong-Uk Kim, Kwang-Lae Hoe

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