Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

“…Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B. …”
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The fate of recessive deleterious or overdominant mutations near mating-type loci under partial selfing by Tezenas, Emilie, Giraud, Tatiana, Véber, Amandine, Billiard, Sylvain

“…In particular, under what conditions deleterious mutations are likely to be maintained for long enough near mating-compatibility genes remains to be evaluated, especially under selfing, which generally increases the purging rate of deleterious mutations. …”
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A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy by Dong J, Liu M, Chen Q, Zha L

“…In addition, this mutation was predicted to damage protein function. …”
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Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease by Ya-Chao He, Pei Huang, Qiong-Qiong Li, Qian Sun, Dun-Hui Li, Tian Wang, Jun-Yi Shen, Juan-Juan Du, Shi-Shuang Cui, Chao Gao, Rao Fu, Sheng-Di Chen

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PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome by Archana Behera, Mukesh Kumar Dharmalingam Jothinathan

“…The genetic analyses revealed that PTCH1 mutations were the most prevalent in both KOTs varieties, while Smoothened (SMO) mutations were rare, indicating that they play a negligible role. …”
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Early diagnosis and rapid detection of TP53 mutation by REAL-TIME PCR in oral cancer by Smitha Nair, Kamala Kannan, Pitchiah Sivaperumal

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Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome by Fuminori Tanabe, Hirotake Kasai, Michiko Morimoto, Shigeharu Oh, Hidetoshi Takada, Toshiro Hara, Masahiko Ito

“…We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. …”
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KRAS and BRAF Mutation Detection: Is Immunohistochemistry a Possible Alternative to Molecular Biology in Colorectal Cancer? by Nicolas Piton, Francesco Borrini, Antonio Bolognese, Aude Lamy, Jean-Christophe Sabourin

“…Although molecular biology remains the reference method for detecting KRAS mutation, immunohistochemistry could be an attractive method for detecting BRAF V600E mutation in colorectal cancer.…”
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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

“…Whole exome sequence analysis was performed and novel mutations were detected in both the SPG11 and the APOB genes. …”
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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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Investigation of the Frequency and Characteristic Features of De Novo Mutations in Clinical Exome Sequence Trio Samples by Ebru Marzioğlu-özdemir, Tülin Çora, Ozkan Bagci, Batuhan Şanlıtürk, Ali Torabi, Nadir Koçak

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D-loop mutations in mitochondrial DNA are a risk factor for chemotherapy resistance in esophageal cancer by Takashi Harino, Koji Tanaka, Daisuke Motooka, Yasunori Masuike, Tsuyoshi Takahashi, Kotaro Yamashita, Takuro Saito, Kazuyoshi Yamamoto, Tomoki Makino, Yukinori Kurokawa, Kiyokazu Nakajima, Hidetoshi Eguchi, Yuichiro Doki

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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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Netflix et les mutations des pratiques de visionnage : entre rupture et continuité by Catherine Dessinges, Lucien Perticoz

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