A Family with a High Incidence of Migraine and Vestibular Migraine and a Case of Menière’s Disease by Marco Familiari, Omar Gatti, Iacopo Cangiano, Roberto Teggi

“…The relationship between VM and MD is still under debate; anyway, it can be speculated that commonly shared genetic mutations could play a role as predisposing factors in both disorders. …”
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…There can be multiple affected family members if it is inherited, though many autosomal dominant ID cases would be due to de novo mutations are very less likely to recur in families. …”
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China’s policies: post-COVID-19 challenges for the older population by Xuezhi Wei, Guoqing Han, Quansheng Wang

“…However, given the ongoing prevalence of coronavirus, emerging mutations, and the liberalization of restrictions, there are increased risks of vulnerable people contracting new variants. …”
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Maxillofacial Changes in Melnick-Needles Syndrome by Leilane Larissa Albuquerque do Nascimento, Monica da Consolação Canuto Salgueiro, Mariana Quintela, Victor Perez Teixeira, Ana Carolina Costa Mota, Camila Haddad Leal de Godoy, Sandra Kalil Bussadori

“…Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. …”
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RING finger protein 5 is a key anti-FMDV host factor through inhibition of virion assembly. by Wei Zhang, Weiwei Li, Yang Yang, Weijun Cao, Wenhua Shao, Mengyao Huang, Jiali Wang, Zhitong Chen, Jiantao Cai, Hongyi Liu, Xiaoyi Zhao, Xingyan Dong, Tingting Zhou, Hong Tian, Zixiang Zhu, Fan Yang, Haixue Zheng

“…Here, we find that the E3 ligase RNF5 interacts with VP1 and targets it for degradation through ubiquitination at the lys200 of VP1, ultimately inhibiting virus replication. Mutations at this lysine site have been found to increase the replication of FMDV in mice. …”
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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature by Siobhan S. Pattwell, Eric Q. Konnick, Yajuan J. Liu, Rebecca A. Yoda, Laligam N. Sekhar, Patrick J. Cimino

“…In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms.…”
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Engineering of SauriCas9 with enhanced specificity by Xiaoqi Zhang, Chen Tao, Miaomiao Li, Sufang Zhang, Puping Liang, Yan Huang, Huihui Liu, Yongming Wang

“…We addressed this by introducing mutations to eliminate polar contacts between Cas9 and the target DNA, resulting in the SauriCas9-R253A variant with enhanced specificity. …”
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De Jaufre Rudel à la littérature en langue d’oïl : échos du topos de l’amor de lonh et poétique de la mémoire affective by Luminiţa Diaconu

“…In our opinion, this is an authentic mise en abyme in the Roman de Guillaume de Dole, considering the multiple reflections of Rudel’s verses, essentially linked to imperative of remembrance, and to narrative framework, even if the insertion of Occitan coblas is accompanied, moreover, by a questioning about literary canons and, finally, by notable mutations in this schema of imaginary.…”
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Fatal Hepatic Decompensation in a Patient with Hepatitis B Cirrhosis Following Famciclovir Withdrawal by Robert P Myers, Rabindra Chaudhary, Kevin Fonseca, Samuel S Lee

“…The authors describe a 41-year-old man with compensated HBV cirrhosis who developed fatal hepatic decompensation due to a rebound in viral replication within six weeks of discontinuing famciclovir therapy. Although several mutations in the HBV DNA polymerase gene have been documented, none has been associated with famciclovir resistance or adverse clinical outcomes. …”
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Atopic dermatitis - the review by Joanna Wrona, Aleksandra Kaźmierczyk, Jędrzej Kęsik, Daria Madycka, Kacper Michta, Małgorzata Słaboń, Aleksandra Wójcik, Karol Stępniak, Wiktor Telega, Kinga Wnuczek

“…The pathophysiology involves key elements such as loss-of-function mutations in the filaggrin (FLG) gene, overproduction of cytokines like IL-4 and IL-13, and skin colonization by Staphylococcus aureus. …”
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A stumbling block in pancreatic cancer treatment: drug resistance signaling networks by Jinming Liu, Biao Zhang, Bingqian Huang, Kexin Zhang, Fujia Guo, Zhizhou Wang, Dong Shang, Dong Shang

“…The primary node molecules in the cell signaling network in cancer tissues are maladjusted and mutated in comparison to normal tissues, which promotes the occurrence and progression of cancer. …”
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A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“… Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. …”
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Application of antisense oligonucleotide drugs in amyotrophic lateral sclerosis and Huntington’s disease by Kaili Ou, Qingqing Jia, Dandan Li, Shihua Li, Xiao-Jiang Li, Peng Yin

“…Abstract Amyotrophic lateral sclerosis (ALS) and Huntington’s disease (HD) are diverse in clinical presentation and are caused by complex and multiple factors, including genetic mutations and environmental factors. Numerous therapeutic approaches have been developed based on the genetic causes and potential mechanisms of ALS and HD. …”
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Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association? by Evangelos P. Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nikos Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, Anastasios Macheras

“…In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-old woman with FA tetraplegia, who was admitted in our department with intestinal obstruction due to a huge uterine tumor, is described. …”
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Peroxisome Proliferator-Activated Receptor Gamma and Regulations by the Ubiquitin-Proteasome System in Pancreatic Cancer by Athina Stravodimou, Gianluigi Mazzoccoli, Ioannis A. Voutsadakis

“…Several molecular abnormalities often present in pancreatic cancer have been defined and include mutations in K-ras, p53, p16, and DPC4 genes. Nuclear receptor Peroxisome Proliferator-Activated Receptor gamma (PPARγ) has a role in many carcinomas and has been found to be overexpressed in pancreatic cancer. …”
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A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“… Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. …”
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Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System by ZHOU Yu, SONG Hongmei

“…Inborn errors of immunity (IEI) are immune system disorders caused by genetic mutations, often presenting with varying degrees of infection, immune dysregulation, lymphoproliferation, and tumor susceptibility. …”
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Spinal Cord Pathology in Alpha-Synuclein Transgenic Mice by Sonja Mendritzki, Saskia Schmidt, Teresa Sczepan, Xin-Ran Zhu, Daniel Segelcke, Hermann Lübbert

“…In previous studies with transgenic C57BL/6 mice overexpressing α-synuclein carrying the mutations A53T and A30P found in Parkinson's disease or with a parkin-null background, we reported severe mitochondrial impairments in neurons and to a larger extent in glial cells of the mesencephalon. …”
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Antibiotic-associated diarrhea: state-of-the-art by D. V. Piliev, S. I. Achkasov, T. K. Korneva, O. I. Sushkov

“…This etiological agent in modern world has got significant association with hospitals and assisted-care facilities, therefore it can spread in out-patient conditions as well at the present time. Mutations resulting in antibiotic resistance, increasing toxin production or promoting sporulation, considerably increase virulence and prevalence of these opportunistic microorganisms.Conclusion. …”
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Protocol for live imaging of axonal transport in iPSC-derived iNeurons by Dan Dou, Erika L.F. Holzbaur, C. Alexander Boecker

“…Our protocol is optimized for the widely available catalog of KOLF2.1J iPSCs with mutations relevant to neurodegenerative diseases but is also applicable to other iPSC lines.For complete details on the use and execution of this protocol, please refer to Dou et al.1,2 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.…”
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