Downregulation of an Evolutionary Young miR-1290 in an iPSC-Derived Neural Stem Cell Model of Autism Spectrum Disorder by Dalia Moore, Brittney M. Meays, Lepakshe S. V. Madduri, Farah Shahjin, Subhash Chand, Meng Niu, Abrar Albahrani, Chittibabu Guda, Gurudutt Pendyala, Howard S. Fox, Sowmya V. Yelamanchili

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Unbinding of alpha chain of hemoglobin in sickle and normal structures by Jhulan Powrel, Rajendra Prasad Koirala, Narayan Prasad Adhikari

“…Sickle cell disease, a genetic disorder, is caused by a mutation of glutamic acid into valine in β chain of hemoglobin at the sixth residue, resulting in structural change of the entire hemoglobin molecule into a sickle shape. …”
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Association of dopamine receptor D2 -141C insertion/deletion and dopamine beta-hydroxylase 19 bp insertion/deletion polymorphisms with schizophrenia: A case-control study in the ea... by Boukhenaf Yasmina, Sariyah Ayachi Ouarda, Achou Rayene, Iness Bernou Amina, Zohra Madoui Fatima, Sifi Karima, Larbi Rezgoun Mohamed

“…Numerous studies emphasize genetic contributions to schizophrenia, particularly focusing on genes coding for proteins in the dopaminergic pathway, which are extensively studied for their involvement in the disorder’s pathophysiology. …”
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Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies by Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova

“…What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by genetic factors. These two aspects influence one another but can develop independently, creating diagnostic and therapeutic challenges. …”
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Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected Wom... by Marica Franzago, Federica Fraticelli, Antonio Nicolucci, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna

“…Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy. Women with a GDM history are at increased risk of developing diabetes and cardiovascular diseases. …”
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Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder by Chuphong Thongnak, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert, Chonlaphat Sukasem

“…Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. …”
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Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease by Yi-Ming Chen, Wei-Ting Hung, Wan-Chun Chang, Chia-Wei Hsieh, Wen-Hung Chung, Joung-Liang Lan, Ning-Rong Gung, Yun-Shien Lee, Der-Yuan Chen, Shuen-Iu Hung

“…Adult-onset Still’s disease (AOSD) is a rare and inflammatory disorder characterized by spiking fever, rash, arthritis, and multisystemic involvement. …”
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Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report by Shahab Noorian, Hossein Moravej, Zhila Afshar, Afagh Hassanzadeh Rad, Setila Dalili

“…Background: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown. …”
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PYROSEQUENCING: ITS POTENTIAL AND LIMITATIONS IN DIAGNOSIS OF INHERITED DISEASES IN CATTLE by Н. A. Kirsanova, A. V. Sukhoedova, M. A. Pleskacheva, I. V. Soltynskaya, I. A. Timofeeva, О. V. Prasolova, E. V. Krylova

“…In particular, more than 500 genetically determined morphological and functional disorders have been detected in cattle; for 150 of them, specifi c mutations are known. …”
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies by Sun Ho Lee, Wung Joo Song

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The relationships among food neophobia, mediterranean diet adherence, and eating disorder risk among university students: a cross-sectional study by Nilufer Ozkan, Fatma Hazan Gul

“…Abstract Background Food neophobia, characterized by the fear of unfamiliar foods, can be influenced by environmental, cultural, and genetic factors, leading to decreased consumption of novel or diverse foods. …”
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Study of the relationships of polymorphisms of the folate cycle genes with the levels of homocysteine and folic acid as risk factors of cardiovascular disorders in the post-covid p... by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, K.P. Komisarenko

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Vasculopathy: a possible factor affecting hereditary angioedema by Anna Laura Colia, Alessandra Ranaldi, Rosa Santacroce, Giovanna D'Andrea, Angela Bruna Maffione, Maurizio Margaglione, Maria D'Apolito

“… Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. …”
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GlucoGenes^®, a database of genes and proteins associated with glucose metabolism disorders, its description and applications in bioinformatics research by V. V. Klimontov, K. S. Shishin, R. A. Ivanov, M. P. Ponomarenko, K. A. Zolotareva, S. A. Lashin

“…Data on the genetics and molecular biology of diabetes are accumulating rapidly. …”
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Results from Ad Hoc and Routinely Collected Data among Celiac Women with Infertility or Pregnancy Related Disorders: Italy, 2001–2011 by Francesca Fortunato, Domenico Martinelli, Rosa Prato, Biagio Pedalino

“…Celiac disease (CD) is a chronic autoimmune illness triggered by gluten consumption in genetically predisposed individuals. Worldwide, CD prevalence is approximately 1%. …”
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Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience by Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro

“…Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. …”
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Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations by Nele Niebrügge, Olga Trovato, Roman Praschberger, Andreas Lieb

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Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients by Daša Perko, Maruša Debeljak, Nataša Toplak, Tadej Avčin

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eNSMBL-PASD: Spearheading early autism spectrum disorder detection through advanced genomic computational frameworks utilizing ensemble learning models by Ayesha Karim, Nashwan Alromema, Sharaf J Malebary, Faisal Binzagr, Amir Ahmed, Yaser Daanial Khan

“…Objective Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by various genetic and environmental factors. …”
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A study of serum brain-derived neurotrophic factor level in individuals with obsessive compulsive disorder and their first-degree relatives as compared to the healthy population by Shaily Mina, Rupam Dhiman, Prakamya Singal, Sukanya Gangopadhyay, Pankaj Verma, Shivani Kathuria

“…Background: The nosological tradition in psychiatry defines diagnostic criteria for disorders based on expert consensus than objective biological markers reflecting underlying neurobiological correlates. …”
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