FV Leiden, Prothrombin II, and MTHFR C677T Mutations in Children and Young Adults with Thromboembolic Diseases by Sura O. AL-Dewachi, Wasem Alkafaf, Farah Mudhafar Fattah, Salman Haza, Muna A. Kashmoola

“…Patients’ mean age was (26.64 ± 8.68) years. Factor V Leiden mutation was the most frequent mutation (12%) followed by MTHFR (C677T) mutation 6%, and the least frequency was for prothrombin gene mutation G20210A (2%). …”
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A Rare Co-Occurrence of Triple Mutations in JAK2, CALR, and MPL in the Same Patient with Myelofibrosis by Sherine J. Thomas, D. P. Dash

“…The diagnosis and prognostication of myeloproliferative neoplasm rely on the presence of driver mutations in JAK2, calreticulin (CALR), and MPL mutations. …”
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Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer’s Disease Mutations by Alejandro Soto-Ospina, Pedronel Araque Marín, Gabriel de Jesús Bedoya, Andrés Villegas Lanau

“…For the simulation, four reported mutations are chosen, which are Met239Ile, Met239Val, Ser130Leu, and Thr122Arg, all associated with various functional responses. …”
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Azole Resistance and <i>ERG11</i> Mutation in Clinical Isolates of <i>Candida tropicalis</i> by Adriele Celine Siqueira, Gisele Aparecida Bernardi, Lavinia Nery Villa Stangler Arend, Gabrielle Tomé Cordeiro, Daiane Rosolen, Fernanda Costa Brandão Berti, Amanda Maria Martins Ferreira, Thaís Muniz Vasconcelos, Bianca Cruz Neves, Luiza Souza Rodrigues, Libera Maria Dalla-Costa

“…The minimum inhibitory concentration (MIC) values ranged from 8–>64 mg/L for fluconazole and 0.25–1 mg/L for voriconazole. All isolates had mutations in <i>ERG11</i>; Y132F and Y257N were predominant (71.4%), followed by Y132F and S154F (14.3%) and Y257H (14.3%). …”
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KEAP1 mutations as key crucial prognostic biomarkers for resistance to KRAS-G12C inhibitors by Linyan Tian, Chengming Liu, Sufei Zheng, Huiyang Shi, Fang Wei, Wenxin Jiang, Yucheng Dong, Haiyan Xu, Enzhi Yin, Nan Sun, Jie He, Yan Wang

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Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature by Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang

“…X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene. …”
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Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes by Ying Yang, Tai-Cheng Zhou, Yong-Ying Liu, Xiao Li, Wen-Xue Wang, David M. Irwin, Ya-Ping Zhang

“…One HNF4A mutation (p.T130I) and two HNF1A polymorphisms (p.I27L and p.S487N) were identified. …”
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A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory by Elin Rebecka Carlsson, Mai-Britt Toft Nielsen, Anne Mette Høgh, Rikke Veggerby Grønlund, Mogens Fenger, Louise Ambye

“…As a supplement, all CaSR-mutations found at our hospital, 2005-2018.…”
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Crossover versus Mutation: A Comparative Analysis of the Evolutionary Strategy of Genetic Algorithms Applied to Combinatorial Optimization Problems by E. Osaba, R. Carballedo, F. Diaz, E. Onieva, I. de la Iglesia, A. Perallos

“…Six of the techniques are GAs with different configurations, and the remaining three are evolutionary algorithms that focus exclusively on the mutation process. Finally, to perform a reliable comparison of these results, a statistical study of them is made, performing the normal distribution z-test.…”
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Analysis of the low density lipoprotein receptor gene (<i>LDLR</i>) mutation spectrum in Russian familial hypercholesterolemia by V. B. Vasilyev, F. M. Zakharova, T. Yu. Bogoslovskaya, M. Yu. Mandelshtam

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Multiomic quantification of the KRAS mutation dosage improves the preoperative prediction of survival and recurrence in patients with pancreatic ductal adenocarcinoma by Won-Gun Yun, Daeun Kim, Youngmin Han, Wooil Kwon, Seong-Geun Lee, Jin-Young Jang, Daechan Park

“…Abstract Most cancer mutation profiling studies are laboratory-based and lack direct clinical application. …”
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First Account of Primary Leiomyosarcoma of the Lesser Omentum since Establishment of c-Kit Mutations in Gastrointestinal Stromal Tumors by Fumito Saijo, Kaoru Sato, Tomoko Handa, Yoichi Narushima, Naoki Matsumura, Noriyuki Iwama, Fumie Nakayama, Hiromi Tokumura

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The SERPINB4 gene mutation identified in twin patients with Crohn’s disease impaires the intestinal epithelial cell functions by Xiao-Mei Ouyang, Jun-Hui Lin, Ying Lin, Xian-Ling Zhao, Ya‐Ni Huo, Lai-Ying Liang, Yong-Dong Huang, Gui-Jing Xie, Peng Mi, Zhen-Yu Ye, Bayasi Guleng

“…Whole-exome sequencing (WES) of these patients revealed a mutation in their SERPINB4 gene. Therefore, we studied a wider clinical cohort of patients with CD or ulcerous colitis (UC), healthy individuals, and those with a family history of CD for this mutation by Sanger sequencing. …”
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A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V) by I. Kammoun, C. Bouzid, H. Kandara, L. Ben Salem, Z. Turki, C. Ben Slama

“…Sequence analysis of the TRβ gene was performed and revealed a novel mutation I54V in exon 4. The same mutation was also found in the mother and two asymptomatic sisters. …”
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Tepotinib for the Treatment of Lung Adenocarcinoma Harboring MET Y1003N Point Mutation: A Case Report by Yukihiro Umeda, Satomi Kimura, Junya Kimura, Yoshiaki Imamura, Tamotsu Ishizuka

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Les mutations foncières et immobilières au pays du Mont-Blanc entre 2001 et 2008 by Isabelle André-Poyaud, Sylvie Duvillard, Antonin Lorioux

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HB H DISEASE CAUSED BY UNIPARENTAL DISOMY: FIRST REPORT OF THE αT-SAUDIΑ MUTATION IN THE CHINESE POPULATION by Ge Wang, Hongting Xie, Jun Zhang, Peng Huang, Min Liang, Dina Zhu, Qianqian Zhang, Yuqiu Zhou, Xuan Shang

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Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation by Esha Thakkar, John A. Iasiello, Sunny R. Cai, Adrienne Hutton

Subjects: “…ALG‐13 mutation…”
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A hypomorphic mutation in the mouse Csn1s1 gene generated by CRISPR/Cas9 pronuclear microinjection by A. V. Smirnov, T. A. Shnaider, A. N. Korablev, A. M. Yunusova, I. A. Serova, N. R. Battulin

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Les exercices de prospective énergétique à l’épreuve des mutations des modes de vie by Thomas Le Gallic, Edi Assoumou, Nadia Maïzi, Pierre Strosser

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