Targeting unique ligand binding domain structural features downregulates DKK1 in Y537S ESR1 mutant breast cancer cells by K. S. Young, G. R. Hancock, E. C. Fink, A. Zigrossi, B. Flowers, D. A. Cooper, V. T. Nguyen, M. C. Martinez, K. S. Mon, M. Bosland, D. R. Zak, A. P. Runde, M. N. Sharifi, I. Kastrati, D. D. L. Minh, S. Kregel, Sean W. Fanning

“…Abstract Resistance to endocrine therapies remains a major clinical hurdle in breast cancer. Mutations to estrogen receptor alpha (ERα) arise after continued therapeutic pressure. …”
Get full text

Substantia nigra alterations in mice modeling Parkinson’s disease by I. N. Rozhkova, S. V. Okotrub, E. Yu. Brusentsev, T. A. Rakhmanova, D. A. Lebedeva, V. S. Kozeneva, N. A. Shavshaeva, N. V. Khotskin, S. Ya. Amstislavsky

“…Wild-type mice of the same sex and age, siblings of the B6.Cg-Tg mice from the same litters, lacking the SNCA gene with the A53T mutation, but expressing murine alpha-synuclein, were used as controls (referred to as the wild type further in the text). …”
Get full text

Association between ABCB4 variants and intrahepatic cholestasis of pregnancy by Dekun Zhang, Yuhong Li, Shufeng He, Jing Shu, Tiechen Li, Qing Sun

“…Polymerase chain reaction (PCR) was used to amplify those exons. PolyPhen2, Mutation Taster, Provean, SIFT and Mutpred2 were used to predict protein structure, and Pymol software was used to predict the impact of missense variant c.1954 A > G(p.Arg652Gly) on proteins. …”
Get full text

Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism by Xurong Mai, Mitsuhiro Kometani, Toshiaki Kato, Ko Aiga, Shigehiro Karashima, Daisuke Aono, Seigo Konishi, Koshiro Nishimoto, Kazuyoshi Hosomichi, Atsushi Watanabe, Yuko Noda, Yoshiyu Takeda, Takashi Yoneda

“…This study aimed to investigate the clinical characteristics and associated genetic mutations in patients with pheochromocytoma and primary aldosteronism. …”
Get full text

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

“…Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.…”
Get full text

Radiation-Induced Sarcoma following Prolonged Coronary Stent Placement by Eric J. Vick, Christopher T. Clark, James M. Lewis

“…As with all procedures which utilize radiation, there is an inherent risk of genetic mutation and the possible development of malignancy. …”
Get full text

Personalized Genetic Testing and Norovirus Susceptibility by Natalie Prystajecky, Fiona SL Brinkman, Brian Auk, Judith L Isaac-Renton, Patrick Tang

“…Various genetic traits can be determined including resistance to norovirus through a nonsense mutation (G428A) in the FUT2 gene. Although this trait is believed to confer resistance to the most dominant norovirus genotype (GII.4), the spectrum of resistance to other norovirus strains is unknown. …”
Get full text

MDM4 Isoform Expression in Melanoma Supports an Oncogenic Role for MDM4-A by Abdullah Alatawi, SoonJye Kho, Michael P. Markey

“…In melanoma, however, the p53 gene is intact in a reported 94% of human cases. Rather than direct mutation, p53 is held inactive through interaction with inhibitory proteins. …”
Get full text

Les monstres d’Aubrey Beardsley et le « grotesque darwinien » by Catherine Delyfer

“…The elusiveness and hybridity of fin-de-siècle identity are also captured in the various symbols late-Victorian artists created in order to represent themselves or their art : James Whistler’s signature butterfly, Odilon Redon’s foetuses and Aubrey Beardsley’s embryos are a few of the famous motifs which foreground the mutation and transformation processes which fascinated the imagination of Aesthetic and Decadent artists. …”
Get full text

Nonlinear Forecasting Model regarding Evolutional Risk of the PPP Project by Wu Gao

“…Nonlinear regression method was used in this research to study the risk mutation of public-private partnership (PPP) projects without any significant events. …”
Get full text

La primauté du modèle de l’homme grec dans les manuels d’histoire du premier franquisme by Bertrand Noblet

“…In particular it poses the question: to what extent the change of regime may have influenced a mutation in masculine values. However, an analysis of the school history books of the period shows that if these heroes showed more martial values after 1939, the image of the ideal man hardly changed: it remained the Greek ideal, more particularly the Athenian citizen. …”
Get full text

Green Logistics Location-Routing Optimization Solution Based on Improved GA A1gorithm considering Low-Carbon and Environmental Protection by Anqing Zhu, Youyun Wen

“…Then, the adaptive operator and cataclysm operator are introduced to improve the GA algorithm, which can adjust crossover and mutation probability according to the needs, reducing the influence of parameters and running time. …”
Get full text

Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice by Eric Tibesar, Christine Karwowski, Paula Hertel, Ann Scheimann, Wikrom Karnsakul

“…Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. …”
Get full text

The Development of Primary Effusion Lymphoma-Like Lymphoma in a Patient with Preexisting Essential Thrombocythemia by Yoshiki Uemura, Marina Komoto, Mitsuo Okada

“…A 71-year-old Japanese male was diagnosed with essential thrombocythemia (ET) with the JAK2 V617F mutation variation, in April 2011. He was mainly treated with hydroxyurea following which the number of platelets was maintained within the normal limit. …”
Get full text

Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria by R. Magesh, C. George Priya Doss

“…In this analysis, we used the existing computational methods to explore the mutation-structure-function relationship in HGD gene causing alkaptonuria.…”
Get full text

Sickle Cell Anemia, the First Molecular Disease: Overview of Molecular Etiology, Pathophysiology, and Therapeutic Approaches by Martin H. Steinberg

“…The root cause of sickle cell disease is a single β-globin gene mutation coding for the sickle β-hemoglobin chain. …”
Get full text

Early-Onset Alzheimer’s Disease Masquerading as Catatonia by Aljoharah Alakkas, Aaron Meyer, Eric Debbold, Raisa Yagudayeva, Jonathan Bui

“…After failure to respond to standard medical treatment, she received an extensive workup, which ultimately revealed a PSEN1 mutation consistent with early-onset Alzheimer’s disease. …”
Get full text

Optimization of Zoom Lens with Discrete State of Liquid Lens Elements by Using Genetic Algorithm by Cheng-Mu Tsai

“…As a result, the zoom lens with constant space can be realized by running the selection, crossover, and mutation operation in the GA optimization.…”
Get full text

Text Knowledge Acquisition Method of Collaborative Product Design Based on Genetic Algorithm by Chongyuan Li, Mengmeng Yang

“…The fitness function of clustering is constructed by the DB index evaluation method; the selection, crossover, and mutation operators in the genetic algorithm are determined; and the objective function of collaborative product design text knowledge clustering is constructed. …”
Get full text