Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xeno... by Sonali P. Barwe, Anilkumar Gopalakrisnapillai, Nitin Mahajan, Todd E. Druley, E. Anders Kolb, Erin L. Crowgey

“…The presence of gene fusions representing the major driver mutations at similar allelic frequencies in PDX samples compared to primary samples and over multiple passages confirms the utility of PDX models for preclinical drug testing. …”
Get full text

Impact of trace metal supplementation on anaerobic biological methanation under hydrogen and carbon dioxide starvation by G. Ghiotto, N. De Bernardini, E. Orellana, G. Fiorito, L. Cenci, P. G. Kougias, S. Campanaro, L. Treu

“…Conversely, bacteria were plastic and prone to genetic fluctuations, accumulating mutations on genes encoding for ABC-transporters and C-metabolism enzymes. …”
Get full text

A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

“…Further molecular tests including AZF microdeletion assay were done, and the results, which showed no mutations in the analyzed genes, were provided by the referring doctor. …”
Get full text

Alteration of Sarcoplasmic Reticulum Ca2+ Release in Skeletal Muscle from Calpain 3-Deficient Mice by Govindan Dayanithi, Isabelle Richard, Cédric Viero, Elsa Mazuc, Sylvie Mallie, Jean Valmier, Nathalie Bourg, Muriel Herasse, Isabelle Marty, Gérard Lefranc, Paul Mangeat, Stephen Baghdiguian

“…Mutations of Ca2+-activated proteases (calpains) cause muscular dystrophies. …”
Get full text

Enzymatic Activity Analysis and Catalytic Essential Residues Identification of Brucella abortus Malate Dehydrogenase by Xiangan Han, Yongliang Tong, Mingxing Tian, Yuxi Zhang, Xiaoqing Sun, Shaohui Wang, Xusheng Qiu, Chan Ding, Shengqing Yu

“…In addition, six amino acids in the MDH were mutated to investigate their roles in the enzymatic activity. …”
Get full text

Exploring the association between air pollution and the incidence of liver cancers by Xin Wu, Xin Zhang, Xiaopeng Yu, Hongyuan Liang, Shaoshan Tang, Yao Wang

“…Mechanistically, air pollutants may cause liver damage by inducing oxidative stress, inflammation, and genetic mutations, contributing to cancer development. Epidemiological evidence from cohort and geographic studies highlights a positive correlation between long-term exposure to air pollutants and elevated incidence and mortality of liver cancer. …”
Get full text

Avant-propos by Valérie AUDA-ANDRÉ

“…Ce panorama sera l’occasion d’une réflexion théorique sur les différentes stratégies d’adaptation du modèle démocratique aux mutations sociales, économiques et culturelles qui ont modifié en profondeur l’identité du peuple britannique, l’être collectif qui se réalise dans des institutions et une pratique démocratiques.…”
Get full text

Research on Temporal and Spatial Changes of Extreme Climate in Guangdong Province from 1961 to 2016 by HUANG Weijie, ZHANG Dawei, ZHANG Xin, LI Qingfeng, LI Wangming, WANG Yadi

“…Extreme climate has the most serious and destructive impact on natural ecosystems,socio-economic development,human health and biodiversity.This paper examines the spatial and temporal variability of climate extremes in Guangdong Province during the period 1961—2016.The results show that most of the extreme precipitation indicators remain consistent in the time series,but the maximum 5 day precipitation amount (R_X5day) and the consecutive wet days (CWD) series mutate.Except for the diurnal temperature range(DTR),most of the extreme temperature indicators have abrupt changes in the time series.Except for CWD,all extreme precipitation indexes basically showed an insignificant upward trend;all extreme temperature indexes basically showed an upward trend in varying degrees,but DTR and growing season length (GSL) showed no significant downward trend.The main period of extreme precipitation index is in the range of 2.03~4.00 a;while the main period of extreme temperature index is in the range of 2.00~3.50 a.There are differences in the spatial distribution of extreme precipitation indicators and extreme temperature indicators,and each one has its own characteristics.…”
Get full text

Exploring the Safety and Effects of COVID-19 Vaccination in Patients with Autoimmune Disease by Kirttna Solai Vairavan, Loh Teng-Hern Tan, Jodi Woan Fei Law, Priyia Pusparajah, Vengadesh Letchumanan

“…Vaccines are our most effective line of defense against the rapidly spreading and mutating virion. Still, there is significant vaccine hesitancy among those with autoimmune conditions who fear the vaccine may cause them more harm than good. …”
Get full text

Primary Roles of Branched Chain Amino Acids (BCAAs) and Their Metabolism in Physiology and Metabolic Disorders by Tomoki Bo, Junichi Fujii

“…Low BCAT activity in the liver reduces the metabolization of BCAAs, but the abundant presence of BCKDH promotes the metabolism of muscle-derived BCKAs, which leads to the production of glucose and ketone bodies. While mutations in the genes responsible for BCAA catabolism are involved in rare inherited disorders, an aberrant regulation of their enzymatic activities is associated with major metabolic disorders such as diabetes, cardiovascular disease, and cancer. …”
Get full text

Evolução das relações entre cidades e portos: entre lógicas homogeneizantes e dinâmicas de diferenciação by Frédéric Monié, Flavia Nico Vasconcelos

“…The current stage of globalisation presents mutations that act on the global network of long distance spatial interactions and redefine the institutional scenery, the technic-operational modalities and the spatial organisation of the world port system. …”
Get full text

CONTACT FINITE ELEMENT ANALYSIS OF JOINT BEARING LAMINATED MEMBRANE COUPLING UNDER COMPOSITE LOADING by SHENTU LiuFang, SUN ChengLong, ZHAO QingJia, ZHANG Yan

“…With laminated group which have nine layers as an example,distribution curves of equivalent stress and contact stress due to different torques,different axial displacements and different angular displacements were obtained. Study shows that Mutative angular displacement is the key effect of laminated stress among various kinds of loading,and the breaking point first occurred around the washer on the lateral diaphragms under the action of composite loading. …”
Get full text

Future Guides for Biomarkers for Autism Spectrum Disorders by Mai Mohamed Elhassan Mustafa

“…This review consolidates current knowledge on various types of ASD biomarkers, including genetic markers indicating specific gene mutations and epigenetic modifications, neurological markers identified through advanced imaging and neurophysiological techniques, metabolic disturbances captured through the analysis of specific pathways, immune markers reflecting maternal and fetal interactions, and nutritional markers highlighting dietary influences and deficiencies. …”
Get full text

Can Humanity Thrive Beyond the Galaxy? by Sayaka WAKAYAMA, Teruhiko WAKAYAMA

“…For example, when humans begin living and reproducing in space habitats or on other planets in the solar system, are there risks that future generations may suffer from adverse mutations induced by space radiation, or that embryos and fetuses will develop abnormally in gravitational environments that differ from that of Earth? …”
Get full text

Immunohistopathological Findings of Severe Cutaneous Adverse Drug Reactions by Mari Orime

“…AGEP typically shows spongiform superficial epidermal pustules accompanied with edema of the papillary dermis and abundant mixed perivascular infiltrates. Mutations in IL36RN may have a definite effect on pathological similarities between AGEP and generalized pustular psoriasis.…”
Get full text

Ipostazele imaginarului în discursul narativ al lui Mircea Eliade by Mirela Grăniceru

“…Pour cette raison, l’utopie de Mircea Eliade est naturel, le centre ne peut être trouvé, il partie de notre unité humaine, mais la conscience scission dans un rêve, rêverie, réveiller mutations responsables de l’ordre ontique.…”
Get full text

Comparison between Conventional Methods and Molecular Diagnosis for Candida albicans and Candida dubliniensis isolated from Cancer Patients Infected with Oral Candidiasis by Nada Fadhil Abbas

“…The current study also showed the diagnosis of new isolates of the two species for the first time, which can be attributed to the occurrence of genetic mutations in them. Conclusion: Both types of pathogenic yeasts that were diagnosed in the current study are the important pathological types prevalent in cancer patients, especially in oral cavity infections, and they are similar to a large extent in terms of phenotypic and diagnostic characteristics.…”
Get full text

Cellular Origins of Regenerating Nodules and Malignancy in the FAH Model of Liver Injury after Bone Marrow Cell Transplantation by Pei-Rong Wang, Yi Li

“…The FAH−/− mouse model was crossed with the ROSAnZ strain and their offspring was genotyped for FAH−/− and ROSAnZ mutations to create a new strain (Fah−/−-ROSAnZ). Using this strain as recipients, we performed bone marrow transplantation experiments. …”
Get full text

The Mammary Gland Carcinogens: The Role of Metal Compounds and Organic Solvents by Stephen Juma Mulware

“…Despite the fact that women who inherited mutations in the BRCA1 and BRCA2 genes have a high risk of developing breast cancer, studies have also shown that significant exposure to certain metal compounds and organic solvents also increases the risks of mammary gland carcinogenesis. …”
Get full text

Activation Mechanism of LRRK2 and Its Cellular Functions in Parkinson’s Disease by Katharina E. Rosenbusch, Arjan Kortholt

“…Roco proteins exhibit a complex activation mechanism involving intramolecular signaling, dimerization, and substrate/effector binding. Importantly, PD mutations in LRRK2 have been linked to a decreased GTPase and impaired kinase activity, thus providing putative therapeutic targets. …”
Get full text