Comparative evaluation of antifungal susceptibility testing methods of invasive Candida species and detection of FKS genes mutations in caspofungin intermediate and resistant isolates by Dalia Saad ElFeky, Doaa Mahdy El-Wakil, Mai M. Mwafy, Mohamed M.A. Atia, Noha Mahmoud Gohar

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From Recurrent Syncope to Sudden Cardiac Death: Clinical Characteristics in a Chinese Patient Carrying a Plakophilin-2 Gene Mutation by Wenling Liu, Xiaoliang Qiu, Wen Liu, Dayi Hu, Tiangang Zhu, Chunling Wang, Dominik Beer, Li Zhang

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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

“…To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). …”
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Genetic Mutations of Tim-3 Ligand and Exhausted Tim-3+ CD8+ T Cells and Survival in Diffuse Large B Cell Lymphoma by Tingting Zhang, Tianyuan Ren, Zheng Song, Jing Zhao, Lei Jiao, Zhenzhen Zhang, Jin He, Xianming Liu, Lihua Qiu, Lanfang Li, Shiyong Zhou, Bin Meng, Qiongli Zhai, Xiubao Ren, Zhengzi Qian, Xianhuo Wang, Huilai Zhang

“…Herein, we identified three genetic mutations in galectin-9, a major ligand of Tim-3, in six patients with DLBCL (6/188, 3.2%) that were not detected in the COSMIC database. …”
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Solid Predominant Histology and High Podoplanin Expression in Cancer-Associated Fibroblast Predict Primary Resistance to Osimertinib in EGFR-Mutated Lung Adenocarcinoma by Yuji Uehara, MD, Hiroki Izumi, MD, PhD, Tetsuro Taki, MD, PhD, Tetsuya Sakai, MD, PhD, Hibiki Udagawa, MD, PhD, Eri Sugiyama, MD, PhD, Shigeki Umemura, MD, PhD, Yoshitaka Zenke, MD, PhD, Shingo Matsumoto, MD, PhD, Kiyotaka Yoh, MD, PhD, Shoko Kubota, MD, PhD, Keiju Aokage, MD, PhD, Naoya Sakamoto, MD, PhD, Shingo Sakashita, MD, PhD, Motohiro Kojima, MD, PhD, Michiko Nagamine, MD, PhD, Yukio Hosomi, MD, PhD, Masahiro Tsuboi, MD, PhD, Koichi Goto, MD, PhD, Genichiro Ishii, MD, PhD

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Asymptomatic hyperCKemia in old age as a presentation form of a mutation in the ANO5 gene, 8 years of follow-up by R. Cuenca Hernández, C. González-González, G. Liaño Esteso, A. Esquivel López

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Epigenomic exploration of disease status of EGFR‐mutated non‐small cell lung cancer using plasma cell‐free DNA hydroxymethylomes by Yong Peng, Jason Karpus, Jyoti D. Patel, Everett E. Vokes, Marina Chiara Garassino, Kirsteen Lugtu, Zhou Zhang, Wei Zhang, Mengjie Chen, Chuan He, Christine M. Bestvina

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Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia by Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen

“…Moreover, the Cx43R239Q mutation results in altered spatial expression of Cx43 protein and mild reduction of gap junction and hemichannel activity. …”
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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes by Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

“…The proband inherited the 3 mutations and exhibited palpitations and arrhythmia-mediated syncope, whereas the parents and sister, who carried one or two of the mutations, were asymptomatic. …”
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Prognostic model and immune-infiltrating cell landscape based on differentially expressed autophagy-related genes in TP53-mutated multiple myeloma by Yan-Hua Zheng, Hong-Yuan Shen, Xiang Chen, Juan Feng, Guang-Xun Gao

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Enhanced multistress tolerance of Saccharomyces cerevisiae with the sugar transporter-like protein Stl1F427L mutation in the presence of glycerol by Zixiong Liu, Lingling Shangguan, Linglong Xu, Huiyan Zhang, Wenxin Wang, Qiao Yang, Xiaoling Zhang, Lan Yao, Shihui Yang, Xiong Chen, Jun Dai

Subjects: “…sugar transporter-like protein mutation…”
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Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene by Guy Massa, Philippe Gillis, Marianne Schwartz

“…Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. …”
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Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family by Yannick Beauséjour, Fernando Alvarez, Martin Beaulieu, Marc Bilodeau

“…Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. …”
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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome by T. M. Morgan, J. M. Colazo, L. Duncan, R. Hamid, K. M. Joos

“…Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). …”
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The modulating effect of coat color mutations on the generation and neutralization of reactive oxygen species in the Аmerican mink (Neovison vison) as a model by S. N. Sergina, V. A. Ilyukha, I. V. Baishnikova, T. N. Ilyina

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Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family by Shahida Awais, Lubna Siddique, Nida Shafi, Sobia Humerah, Summyah Niazi, Wafa Omer

“…Genetic analysis revealed a missense mutation in RAG2 genes in female SCID patient.      …”
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Mutated p53 Promotes the Symmetric Self-Renewal of Cisplatin-Resistant Lung Cancer Stem-Like Cells and Inhibits the Recruitment of Macrophages by Yu Xu, Zhi Xu, Qi Li, Liang Guo, Yao Wang, Jianchun Zhou, Guansong Wang, Yuliang Liu

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Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A by Mujahed I. Mustafa, Naseem S. Murshed, Abdelrahman H. Abdelmoneim, Miyssa I. Abdelmageed, Nafisa M. Elfadol, Abdelrafie M. Makhawi

“…It is the second most frequent type of HSP which is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. SPG3A gene mutations and the phenotype-genotype correlations have not yet been recognized. …”
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Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia by Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

“…DNA extracted from fetal tissue was submitted for analysis by next generation sequencing which revealed homozygosity for the RecNcil mutation in the GBA gene. Both parents were found to be heterozygous for the variant. …”
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Gallois Florence, Une approche régulationniste des mutations de la configuration institutionnelle française des services à la personne by Florence Gallois

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