Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China by Lixin Xie, Xiaoxiang Hu, Yang Li, Weihua Zhang, Liang'an Chen

“…In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.…”
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Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene by C. Simoncini, V. Montano, G. Alì, R. Costa, G. Siciliano, M. Mancuso

“…More than 100 tRNA pathogenetic mutations are described, showing little correlation between the observed clinical phenotype and a specific mitochondrial tRNA mutation. …”
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Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? by Manal Mustafa, Nabil Moghrabi, Bassam Bin-Abbas

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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family by Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao

“…Sanger sequencing was used to confirm and screen the identified mutation in 18 members of the family. The disease-causing mutation was identified by bioinformatics analysis and confirmed by segregation analysis. …”
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A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II by Sen Chen, Yuan Jin, Le Xie, Wen Xie, Kai Xu, Yue Qiu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Wei-Jia Kong, Yu Sun

“…Among them, SOX10 mutation is responsible for approximately 15% of type II WS or 50% of type IV WS. …”
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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

“…A genetic analysis with a next generation sequencer identified a homozygous W361X mutation in the CASQ2 gene. Careful history taking disclosed that her parents had a consanguineous marriage. …”
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Pharmacokinetic Evaluation of [C]CEP-32496 in Nude Mice Bearing BRAF Mutation-Induced Melanomas by Cuiping Jiang MMSc, Lin Xie MD, PhD, Yiding Zhang BSc, Masayuki Fujinaga PhD, Wakana Mori MSc, Yusuke Kurihara PhD, Tomoteru Yamasaki PhD, Feng Wang MD, PhD, Ming-Rong Zhang MD, PhD

“…CEP-32496, also known as RXDX-105 or Agerafenib, is a new orally active inhibitor for the mutated v-raf murine sarcoma viral oncogene homolog B1 (BRAF V600E ), which has attracted considerable attention in clinical trials for the treatment of human cancers. …”
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Psychological discomfort in carriers and non-carriers of the Huntington disease mutation and its relationship with disease burden by Y. Rodríguez-Agudelo, M. Chávez-Oliveros, A. Ochoa-Morales, L. Martínez-Ruano, A. Camacho-Molina, F. Paz-Rodríguez

“…Objective: To identify psychological distress in carriers of the mutation that causes HD, without motor symptoms, utilizing the Symptom Checklist 90 (SCL-90), and to correlate with the burden and proximity of the disease. …”
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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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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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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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