Immunopeptidomics for autoimmunity: unlocking the chamber of immune secrets by Sanya Arshad, Benjamin Cameron, Alok V. Joglekar

“…Abstract T cells mediate pathogenesis of several autoimmune disorders by recognizing self-epitopes presented on Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen (HLA) complex. …”
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Targeting natural antioxidant polyphenols to protect neuroinflammation and neurodegenerative diseases: a comprehensive review by Maroua Jalouli, Md Ataur Rahman, Partha Biswas, Hasanur Rahman, Abdel Halim Harrath, In-Seon Lee, In-Seon Lee, Sojin Kang, Jinwon Choi, Moon Nyeo Park, Bonglee Kim, Bonglee Kim

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Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

“…Furthermore, it emphasizes the indispensable role of an interdisciplinary molecular tumor board, enhancing the awareness of molecular profiling and targeted therapies in patients with rare cancer susceptibility disorders.…”
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CRISPR/Cas9-editing of PRNP in Alpine goats by Aurélie Allais-Bonnet, Christophe Richard, Marjolaine André, Valérie Gelin, Marie-Christine Deloche, Aurore Lamadon, Gwendoline Morin, Béatrice Mandon-Pépin, Eugénie Canon, Dominique Thépot, Johann Laubier, Katayoun Moazami-Goudarzi, Ludivine Laffont, Olivier Dubois, Thierry Fassier, Patrice Congar, Olivier Lasserre, Tiphaine Aguirre-Lavin, Jean-Luc Vilotte, Eric Pailhoux

“…Abstract Misfolding of the cellular PrP (PrPc) protein causes prion disease, leading to neurodegenerative disorders in numerous mammalian species, including goats. …”
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GSK-3β at the Intersection of Neuronal Plasticity and Neurodegeneration by Tomasz Jaworski, Ewa Banach-Kasper, Katarzyna Gralec

“…Furthermore, mouse models with defective GSK-3β activity display distinct structural and behavioral abnormalities, which model some aspects of different neurological and neuropsychiatric disorders. Equalizing GSK-3β activity in these mouse models by genetic or pharmacological interventions is able to rescue some of these abnormalities. …”
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Comprehensive analysis of the 5-HTTLPR allelic polymorphism effect on behavioral and neurophysiological indicators of executive control in people from different ethnic groups in Si... by A. N. Savostyanov, D. V. Bazovkina, S. A. Lashin, S. S. Tamozhnikov, A. E. Saprygin, T. N. Astakhova, U. N. Kavai-ool, N. V. Borisova, A. G. Karpova

“…The allelic polymorphism of the serotonin transporter’s gene 5-HTTLPR is considered as one of the factors determining an individual genetic predisposition to the development of a wide range of affective disorders, including depression. …”
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Review of celiac disease in the pediatric population by Aleksandra Strawińska, Maria Wydro, Magdalena Grotowska, Martyna Łukasiewicz

“…Celiac disease (CD) is a chronic autoimmune disease triggered by the ingestion of gluten in genetically predisposed individuals, primarily those with HLA-DQ2 and HLA-DQ8 haplotypes. …”
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Immunopathogenesis of inflammatory bowel diseases by Ye. A. Konovich, I. L. Khalif, M. V. Shapina

“…To present analysis of data on immunopathogenesis of inflammatory bowel diseases.Key points. At genetically sensitive animals inflammatory bowel diseases (IBD) develop at various effects on innate and adaptive systems of immune defense (knock-out and transgenic mice), causing changes of expression of significant immunologic factors with distortion of pro- and anti-inflammatory cells and molecules ratio at their contact to microbiota structures. …”
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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene by Katarzyna Ignasiak-Budzyńska, Mikołaj Danko, Janusz Książyk

“…Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. …”
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Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect by Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska

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GABAergic Neuron Specification in the Spinal Cord, the Cerebellum, and the Cochlear Nucleus by Kei Hori, Mikio Hoshino

“…The elaborate balance of the activities of the two types is very important to elicit higher brain function, because its imbalance may cause neurological disorders, such as epilepsy and hyperalgesia. In the central nervous system, inhibitory neurons are mainly represented by GABAergic ones with some exceptions such as glycinergic. …”
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A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome by QingHua Liu, Ganhua Zeng, Yu Xiong, Chenyang Xu

“…Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders characterized by significant clinical and genetic variability, affecting multiple systems in the body. …”
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A Pediatric Case of Cowden Syndrome with Graves’ Disease by Cláudia Patraquim, Vera Fernandes, Sofia Martins, Ana Antunes, Olinda Marques, José Luís Carvalho, Jorge Correia-Pinto, Carla Meireles, Ana Margarida Ferreira

“…Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. …”
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

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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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The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses by Sabrina Congedi, Chiara Di Pede, Maurizio Scarpa, Angelica Rampazzo, Franca Benini

“…Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). …”
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Structural Correlates of Neurological Signs in Huntington’s Disease: A Quantitative Approach by E. A. Loh, J. K. A. Roberts, E. Mohr

“…Huntington's disease (HD) is a genetically transmitted disorder associated with atrophy of the basal ganglia. …”
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Critical evaluation of pathogenic factors of primary biliary cirrhosis by A. F. Sheptulina, M. V. Mayevskaya, V. T. Ivashkin

“…Etiological factors increasing risk of PBC development include genetic factors, immunologic disorders, and environmental features. …”
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Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence? by Arjun Sekar

“… Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. …”
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GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation by Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan

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