Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism by Susan Lin, Aravind R Gade, Hong-Gang Wang, James E Niemeyer, Allison Galante, Isabella DiStefano, Patrick Towers, Jorge Nunez, Maiko Matsui, Theodore H Schwartz, Anjali Rajadhyaksha, Geoffrey S Pitt

“…Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological disorders characterized by recurrent seizures and exacerbated by disruptions to excitatory/inhibitory balance in the brain, are commonly caused by mutations in ion channels. Disruption of, or variants in, FGF13 were implicated as causal for a set of DEEs, but the underlying mechanisms were clouded because FGF13 is expressed in both excitatory and inhibitory neurons, FGF13 undergoes extensive alternative splicing producing multiple isoforms with distinct functions, and the overall roles of FGF13 in neurons are incompletely cataloged. …”
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Lack of HLH in FMF by Ozge Basaran, Erdal Sag, Elif Arslanoglu Aydın, Busra Aydın, Nur Kübra Tasdemir, Elif Celikel, Yagmur Bayındır, Semanur Özdel, Yelda Bilginer, Alexei A Grom, Seza Ozen

“…Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations. Despite intense inflammation in FMF, MAS is rare. …”
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Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder by Claudia Fuchs, Laura Gennaccaro, Stefania Trazzi, Stefano Bastianini, Simone Bettini, Viviana Lo Martire, Elisa Ren, Giorgio Medici, Giovanna Zoccoli, Roberto Rimondini, Elisabetta Ciani

“…CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. …”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant PKD (ADPKD). …”
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Goat Genomic Resources: The Search for Genes Associated with Its Economic Traits by A. M. A. M. Zonaed Siddiki, Gous Miah, Md. Sirazul Islam, Mahadia Kumkum, Meheadi Hasan Rumi, Abdul Baten, Mohammad Alamgir Hossain

“…Hence, recognizing candidate genes and their mutations that cause variations in gene expression and phenotype of an economic trait can help breeders look for genetic markers for specific economic traits. …”
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Intracranial germ cell tumors: advancement in genomic diagnostics and the need for novel therapeutics by Kee Kiat Yeo, Kee Kiat Yeo, Joanna Gell, Joanna Gell, Joanna Gell, Girish Dhall, Girish Dhall, Ching Lau, Ching Lau, Ching Lau

“…Various studies have shown that activating mutations in MAPK pathway are common alterations in intracranial GCTs, with KIT expression seen in most germinomas. …”
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RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia by Tim Kong, Angelo B. A. Laranjeira, Christopher T. Letson, LaYow Yu, Shuyang Lin, Jared S. Fowles, Daniel A. C. Fisher, Sherwin Ng, Wei Yang, Fan He, Minyoung Youn, Kailen Mark, Ana San Jose, Jingxian Liu, Alexander B. Kim, Maggie J. Cox, Mary C. Fulbright, Aarthi Jayanthan, Gerrit Los, Stacey L. Rentschler, Li Ding, Kathleen M. Sakamoto, Sandra E. Dunn, Grant A. Challen, Stephen T. Oh

“…Treatment with PMD-026 suppressed disease burden across seven syngeneic and patient-derived xenograft leukemia mouse models spanning the spectrum of driver and disease-modifying mutations. These findings uncover a therapeutic avenue for a conserved dependency across MPN and sAML.…”
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Glutamine missense suppressor transfer RNAs inhibit polyglutamine aggregation by Rasangi Tennakoon, Teija M.I. Bily, Farah Hasan, Sunidhi Syal, Aaron Voigt, Tugce B. Balci, Kyle S. Hoffman, Patrick O’Donoghue

“…Translation fidelity modifies protein aggregation, and several studies suggest that mutating one or two glutamine (Gln) residues in polyQ reduces aggregation. …”
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Establishment and characterization of ovarian clear cell carcinoma patient-derived xenografts by Joseph J. Caumanns, Shang Li, Gert J. Meersma, Evelien W. Duiker, Ate G. J. van der Zee, G. Bea A. Wisman, Steven de Jong

“…ARID1A, PTEN, ATM, BRCA1 and PIK3CA mutations were found in matched tumors and PDXs. ARID1A protein loss was further verified by immunohistochemical staining. …”
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Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers by R. N. Kalendar, K. S. Aizharkyn, O. N. Khapilina, A. A. Amenov, D. S. Tagimanova

“…A high proportion of the retroelements have lost their autonomous transposition ability, either by point mutations and/or deletions, many of them seem to embody defective elements with deletions. …”
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Transcriptional Targeting of Mature Dendritic Cells with Adenoviral Vectors via a Modular Promoter System for Antigen Expression and Functional Manipulation by Ilka Knippertz, Andrea Deinzer, Jan Dörrie, Niels Schaft, Dirk M. Nettelbeck, Alexander Steinkasserer

“…We selected a 216 bp short Hsp70B′ core promoter induced by a mutated, constitutively active heat shock factor (mHSF) 1 to drive strong gene expression of therapeutic transgenes MelanA, BclxL, and IL-12p70 in HeLa cells, as well as in mature DCs (mDCs). …”
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Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients by Ahmed M. Salem, Samira Ismail, Waheba A. Zarouk, Olwya Abdul Baky, Ahmed A. Sayed, Sawsan Abd El-Hamid, Sohair Salem

“…There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. …”
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Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage by Christopher A. Chapleau, Elena Maria Boggio, Gaston Calfa, Alan K. Percy, Maurizio Giustetto, Lucas Pozzo-Miller

“…RTT, an X chromosome-linked disorder associated with mutations in MECP2, is the leading cause of intellectual disabilities in women. …”
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Enhanced Oxidative Phosphorylation Driven by TACO1 Mitochondrial Translocation Promotes Stemness and Cisplatin Resistance in Bladder Cancer by Minhua Deng, Zhaohui Zhou, Jiawei Chen, Xiangdong Li, Zefu Liu, Jingwei Ye, Wensu Wei, Ning Wang, Yulu Peng, Xin Luo, Lijuan Jiang, Fangjian Zhou, Xianchong Zheng, Zhuowei Liu

“…Intriguingly, the mitochondrial translocation of TACO1 is mediated by the heat shock protein 90 β (HSP90β), a process that requires circFOXK2 as a scaffold for the TACO1‐HSP90β interaction. The mutations at the binding sites of TACO1‐circFOXK2‐HSP90β disturb the ternary complex and inhibit cancer stemness and cisplatin resistance in BCa cells by suppressing the MTCO1/OXPHOS/mtROS axis. …”
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Differences in Transcriptional Activation by the Two Allelic (L162V Polymorphic) Variants of PPARα after Omega-3 Fatty Acids Treatment by Iwona Rudkowska, Mélanie Verreault, Olivier Barbier, Marie-Claude Vohl

“…It is hypothesized that the transcriptional activity by wild-type L162-PPARα is enhanced to a greater extent than the mutated variant (V162-PPARα) in the presence of eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA) or a mixture of EPA:DHA. …”
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Multi-functional role of apolipoprotein E in neurodegenerative diseases by Sadequl Islam, Arshad Noorani, Yang Sun, Makoto Michikawa, Kun Zou

“…The review also explores protective effects of ApoE mutations against AD and ApoE4-induced tauopathy, neurodegeneration, and neuroinflammation. …”
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Identification of fatty acid anabolism patterns to predict prognosis and immunotherapy response in gastric cancer by Weijie Sun, Yanhong Xia, Feifan Jin, Jinghao Cao, Gaoping Wu, Keyi Li, Yanhua Yu, Yunyi Wu, Gaoqi Ye, Ke Xu, Dengpan Liu, Weidong Jin

“…Further analysis showed patients grouped in the high FA-score group were characterized with greater tumor mutational burden (TMB) and higher microsatellite stability (MSI-H), which may be more aeschynomenous to immunotherapy and had a favorable prognosis. …”
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Self-assembled Human Serum Protein-based Core-shell Nanoparticles to inhibit key oncogenic signalling in Drug-Resistant Leukemia by Archana Payickattu Retnakumary, Lekshmi G Kumar, Neeraj Sidharthan, Pavithran Keechilat, Giridharan L. Malarvizhi, Prasanna L Hanumanthu, Madhavan V Thampi, Deepthy Menon, Krishnakumar Menon, Shantikumar V Nair, Manzoor Koyakutty

“…Remarkably, even patients with BCR-ABL oncogene mutations displayed over 95% cytotoxicity with the CS-NPs. …”
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Neutrophils: From Inflammatory Bowel Disease to Colitis-Associated Colorectal Cancer by Chen T, Liu J, Hang R, Chen Q, Wang D

“…These processes can induce DNA mutations, thereby facilitating the development of colon cancer. …”
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Familial Aggregation and Risk Factors for Prostate Cancer in Affected Individuals by Julio Armando Sánchez Delgado, Nailé Edita Sánchez Lara

“…Genetic studies indicate a link between certain genetic mutations, the aggressiveness of this neoplasia, the risk of developing the disease, and patient survival rates. …”
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