The Neuropathology of Autism by Gene J. Blatt

“…Autism is a behaviorally defined neurodevelopmental disorder that affects over 1% of new births in the United States and about 2% of boys. …”
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Current and Novel Therapies for Cluster Headache: A Narrative Review by Bruna de Freitas Dias, Christopher L. Robinson, Maria Dolores Villar-Martinez, Sait Ashina, Peter J. Goadsby

“…Abstract Cluster headache (CH) is an excruciating and debilitating primary headache disorder. The prevalence is up to 1.3%, and the typical onset is around age 30. …”
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Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. Despite the enzyme’s biological significance, the molecular architecture of the FAM111A serine protease domain (SPD) is unknown. …”
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Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report by Golnaz Lotfian, MD, Amirmasoud Negarestani, MD, Sarah Gondek, BS, Aleksandr Raskind, DO, William Chen, MD, Emad Allam, MD

“…Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. …”
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Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate by Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue Li

“…Abstract Background Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. …”
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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report by Noura Abdul Rahman, Fatima Breim, Joud Zakour, Zainab Srouji, Silva Ishkhanian

“…Conclusion Gorlin syndrome is a rare genetic disorder characterized by various clinical manifestations, with basal cell carcinomas being a prominent feature. …”
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Pediatric Sickle Cell Disease in Sudan: Complications and Management by Meysaa Talha, Bashier Osman, Safa Abdalla, Hind Mirghani, Iman Abdoon

“…Sickle cell disease (SCD) is a life-threatening genetic disorder due to the formation of sickle hemoglobin molecule (HbS) that polymerizes in hypoxic conditions leading to SCD-related complications. …”
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Possible Implication of Local Immune Response in Darier's Disease: An Immunohistochemical Characterization of Lesional Inflammatory Infiltrate by Clelia Miracco, Francesco Pietronudo, Vasileios Mourmouras, Michele Pellegrino, Monica Onorati, Maria Grazia Mastrogiulio, Luca Cantarini, Pietro Luzi

“…Cell-mediated immunity is considered to be normal in Darier's Disease (DD), an inherited skin disorder complicated by skin infections. To date, there are no investigations on the local inflammatory infiltrate in DD skin lesions. …”
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Huntington’s disease modeling on HEK293 cell line by D. V. Sharipova, T. B. Malankhanova, A. A. Malakhova

“…Huntington’s disease is a hereditary neurodegenerative disorder caused by CAG trinucleotide repeat expansion in the first exon of HTT gene. …”
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Dipeptidyl-Peptidase 4 Inhibitor Sitagliptin Ameliorates Hepatic Insulin Resistance by Modulating Inflammation and Autophagy in ob/ob Mice by Wenbin Zheng, Jing Zhou, Shasha Song, Wen Kong, Wenfang Xia, Lulu Chen, Tianshu Zeng

“…In the current study, ob/ob mice, a mouse model of genetic obesity and diabetes, were administered via gavage with sitagliptin 50 mg/kg daily for 4 weeks. …”
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Preclinical Cognitive Markers of Alzheimer Disease and Early Diagnosis Using Virtual Reality and Artificial Intelligence: Literature Review by María de la Paz Scribano Parada, Fátima González Palau, Sonia Valladares Rodríguez, Mariano Rincon, Maria José Rico Barroeta, Marta García Rodriguez, Yolanda Bueno Aguado, Ana Herrero Blanco, Estela Díaz-López, Margarita Bachiller Mayoral, Raquel Losada Durán

“…MethodsUsing PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, we searched Scopus, PubMed, and Google Scholar for studies on neuropsychiatric disorders utilizing conversational data. …”
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Probiotics in the Complex Treatment of Various Diseases of the Gastrointestinal Tract by K. V. Ivashkin, M. S. Reshetova, O. Yu. Zolnikova, V. R. Korneev, E. N. Shirokova

“…To present up-to-date information on the role of microbiota and its disorders in the development of various diseases of the gastrointestinal tract (GIT), including functional diseases, as well as to consider current methods of correction and maintenance of normal microbiota.General findings. …”
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TSC complex decrease the expression of mTOR by regulated miR-199b-3p by Na Zhao, Qiuhong Xiong, Ping Li, Guangxin Chen, Han Xiao, Changxin Wu

“…Abstract The TSC complex formed by TSC1 and TSC2 is the most important upstream negative regulator of mTORC1. Genetic variations in either TSC1 or TSC2 cause tuberous sclerosis complex (TSC) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. …”
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Case Series of Brittle Cornea Syndrome by Taher Eleiwa, Mariam Raheem, Nimesh A. Patel, Audina M. Berrocal, Alana Grajewski, Mohamed Abou Shousha

“…Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. …”
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Therapeutic role of isoflavones from traditional medicine in the management of polycystic ovary syndrome by Ashwini Armarkar, Prafulla Sabale, Satyendra Prasad, Vidya Sabale, Lata Potey, Dipti Masram

“…Introduction: Polycystic ovary syndrome (PCOS) is a significant public health problem and one of the most common gynaecological and endocrine disorder.This condition affects an estimated 8–13 % of women of reproductive age worldwide. …”
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Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling by Yong-Eun Kim, Minseong Kim, Sunwhi Kim, Raham Lee, Yusuke Ujihara, Esther Magdalena Marquez-Wilkins, Yong-Hui Jiang, Esther Yang, Hyun Kim, Changhoon Lee, Changwon Park, Il Hwan Kim

“…Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disability condition arising from a combination of genetic and environmental factors. …”
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Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames by Lei Chen, Xia Gao, Xiangshen Liu, Ye Zhu, Dong Wang

“…Mutations in PKD1 coding sequence and abnormal PKD1 expression levels contribute to the development of autosomal-dominant polycystic kidney disease, the most common genetic disorder. Regulation of PKD1 expression by factors located in the promoter and 3´ UTR have been extensively studied. …”
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DNA Methylation Profiles of Blood Cells Are Distinct between Early-Onset Obese and Control Individuals by Je-Keun Rhee, Jin-Hee Lee, Hae Kyung Yang, Tae-Min Kim, Kun-Ho Yoon

“…Obesity is a highly prevalent, chronic disorder that has been increasing in incidence in young patients. …”
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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

“…Results We present six vignettes of undiagnosed patients experiencing seizures as part of their recessive genetic condition. For each patient, we analyze a gene of interest: MPO, P2RX7, SQSTM1, COL27A1, PIGQ, or CACNA2D2, and find relevant symptoms associated with UKB participants. …”
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Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation by E. Martínez, R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, J. J. Tellería

“…Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. …”
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