Methylenetetrahydrofolate Reductase Enzyme Mutations and Relationship of Homocysteine Vitamin B12 and Folate Blood Levels by Tuba Günebak Şahin, Berkan Sayal, Erdal Coşgun, Tanju Besler, Sinan Beksaç

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Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species by Shatadru Ghosh Roy, Jindřich Brejcha, Petr Maršík, Anna Bakhrat, Moty Abdu, Roberto Arbore, Pedro Miguel Araújo, Sandra Afonso, Miguel Carneiro, Iris Grossman-Haham, Uri Abdu

“…Here, we identified seven previously unreported variants in PKS associated with defective psittacofulvin production in four diverse species, including three nonsense mutations. Intriguingly, three of the remaining nonsynonymous substitutions reside within the ketoacyl synthase (KS) domain, whereas one at MAT domain. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
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sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway by Yatao Bao, Meng Lian, Yong Chen, Xiaotian Gu, Kunyu Cao, Xiaoping Du, Jiyu Ju

“…The results showed that sNASP gene mutations can promote the response of the TLR4–TAK1 signaling pathway but have no significant effect on the TLR4–TBK1 signaling pathway. sNASP mutations enhanced TLR4-mediated nuclear factor-κ-gene binding and mitogen-activated protein kinase activation and IL-6, tumor necrosis factor secretion in murine peritoneal macrophages. …”
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Survival outcome prediction of esophageal squamous cell carcinoma patients based on radiomics and mutation signature by Ting Yan, Zhenpeng Yan, Guohui Chen, Songrui Xu, Chenxuan Wu, Qichao Zhou, Guolan Wang, Ying Li, Mengjiu Jia, Xiaofei Zhuang, Jie Yang, Lili Liu, Lu Wang, Qinglu Wu, Bin Wang, Tianyi Yan

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Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation by Stephen E. Langabeer, Lisa Lee Tokar, Laura Kearney, Cathal O’Brien, Kowshika Thavarajah, Aisling Barrett, John McManus, Hilary O’Leary

“…Acquired, activating mutations of MPL W515 are recognised driver mutations of the myeloproliferative neoplasms (MPN), namely, essential thrombocythemia and primary myelofibrosis. …”
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A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X by Michael A. Flores, Marta Garcia-Forn, Alexa von Mueffling, Praise Ola, Yeaji Park, Andrea Boitnott, Silvia De Rubeis

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Corrigendum to “Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene” by Amna Ahmed, Badr Alsaleem

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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. …”
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Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation by Can Li, Lingdan Dong, Li Zhu, Wenbin Guan

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation by Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang, Dong-Yang Kang, Su-Yan Yang, Xin Zhang, Xue Gao, Pu Dai

“…In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. …”
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Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B by Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, John V. Conaglen

“…Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. …”
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Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in <i>C. elegans</i> by Fanni Ősz, Aamir Nazir, Krisztina Takács-Vellai, Zsolt Farkas

“…Using <i>Caenorhabditis elegans</i> as a model organism, we discuss how ETC mutations manifest as developmental abnormalities, lifespan alterations, and changes in mtROS levels. …”
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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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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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