Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

“…Autism spectrum disorders are a separate group of defects with a very high genetic component. …”
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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

“…Abstract Background Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC–MS/MS) analysis are viewed worldwide as the gold standard procedure for the expanded NBS programs for these disorders. …”
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Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies by Chiara Tognola, Giacomo Ruzzenenti, Alessandro Maloberti, Marisa Varrenti, Patrizio Mazzone, Cristina Giannattasio, Fabrizio Guarracini

“…Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. …”
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Watermelon Germplasm with Resistance to Whitefly-transmitted Viruses by Alex Luckew, Nebahat Sari, Swikriti Pandey, Ted McAvoy, Alvin M. Simmons, Geoffrey Meru, Cecilia McGregor

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NMR metabolic profiling of the liver following administrationof alcohol andthemushroom Ganoderma lucidum in rats by M. S. Krestina, O. B. Shevelev, I. V. Koptyug, L. A. Gerlinskaya, S. E. Peltek, A. E. Akulov

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From Serendipity to Precision: Integrating AI, Multi-Omics, and Human-Specific Models for Personalized Neuropsychiatric Care by Masaru Tanaka

“…However, relying on chance is becoming increasingly insufficient to address the rising prevalence of mental health disorders like depression and schizophrenia, which necessitate precise, innovative approaches. …”
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The molecular view of mechanical stress of brain cells, local translation, and neurodegenerative diseases by T. M. Khlebodarova

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Polymorphism of lipid exchange genes in some populations of South and East Siberia by L. E. Tabikhanova, L. P. Osipova, E. N. Voronina, A. O. Bragin, M. L. Filipenko

“…Lipid metabolism disorders underlie the pathogenesis of a number of diseases. …”
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TCF7L2 gene polymorphism in populations of f ive Siberian ethnic groups by L. E. Tabikhanova, L. P. Osipova, T. V. Churkina, E. N. Voronina, M. L. Filipenko

“…Investigation of the frequencies of functionally signif icant gene variants in the context of medical biology and gene geography is a relevant issue for studying the genetic structure of human populations. The transition from a traditional to an urbanized lifestyle leads to a higher incidence of civilizational diseases associated with metabolic disorders, including type 2 diabetes mellitus. …”
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Genome-wide association study identifies four pan-ancestry loci for suicidal ideation in the Million Veteran Program. by Allison E Ashley-Koch, Nathan A Kimbrel, Xue J Qin, Jennifer H Lindquist, Melanie E Garrett, Michelle F Dennis, Lauren P Hair, Jennifer E Huffman, Daniel A Jacobson, Ravi K Madduri, Hilary Coon, Anna R Docherty, Jooeun Kang, Niamh Mullins, Douglas M Ruderfer, VA Million Veteran Program (MVP), MVP Suicide Exemplar Workgroup, International Suicide Genetics Consortium, Philip D Harvey, Benjamin H McMahon, David W Oslin, Elizabeth R Hauser, Michael A Hauser, Jean C Beckham

“…No other ancestry-specific GWS results were identified, underscoring the need to increase representation of diverse individuals. The genetic correlation of SI and SA within MVP was high (rG = 0.87; p = 1.09e-50), as well as with post-traumatic stress disorder (PTSD; rG = 0.78; p = 1.98e-95) and major depressive disorder (MDD; rG = 0.78; p = 8.33e-83). …”
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TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis by Maryam Mukhtar, Nadeem Sheikh, Andleeb Batool, Tayyaba Saleem, Muhammad Babar Khawar, Mavra Irfan, Saira Kainat Suqaina

“…Arthritis is a genetic disorder characterized by bones and joint degradation assisted by severe pain and inflammation. …”
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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia by Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

“…The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.…”
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Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations. by Federica Mosti, Mariah L Hoye, Carla F Escobar-Tomlienovich, Debra L Silver

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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family by Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

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Inflammatory Cytokines, Adipocytokines, and Th17/Treg Balance in Patients with Nonalcoholic Fatty Liver Disease following Administration of Dahuang Zhechong Pills by Xiaohua Duan, Jianlin Lv, Hebei Jiang, Kefei Zheng, Yulin Chen

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Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome. by Brittany E Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L Underwood, Jun Hyoung Park, Huihui Fan, Julian A Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K Berg, Danielle A Bazer, Christopher Vellano, Philip Jones, Holger K Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee

“…Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. …”
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Noncoding RNA profiling in omentum adipose tissue from obese patients and the identification of novel metabolic biomarkers by Yongjiao Zhang, Yongjiao Zhang, Ao Chen, Ao Chen, Sumei Lu, Dong Liu, Xiaolei Xuan, Xiaofei Lei, Mingwei Zhong, Fei Gao

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Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

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Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome by Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman

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Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome by Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Theresa V. Strong

“…Abstract Background Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. …”
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