Sahand Tehrani Fateh

Insights into the activity, production, and signaling circuits of homoserine lactones in mammalian cells

Sepand Tehrani Fateh, Sahand Tehrani Fateh, Seyed Ali Ziai

analyses. Moreover, liquid chromatography-mass spectrometry of conditioned medium from two human cell lines suggested the production of potential AHLs. Together, this study proposes the possibility of an AHL-driven signaling circuit in human cells.

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Genetically Predicted 25‐Hydroxyvitamin D Levels on Hypothyroidism: A Two‐Sample Mendelian Randomization

Mahdi Akbarzadeh, Sahand Tehrani Fateh, Aysan Moeinafshar, Danial Habibi et autres

BACKGROUND: Alterations in levels of 25‐hydroxyvitamin D have been associated with the risk of thyroid disease. This study uses Mendelian randomization (MR) to infer the possible causal association of 25‐hydroxyvitamin D with hypothyroidism. METHODS: We performed two‐sample MR using the summary statistics …

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review

Parnia Asgari, Iman Elahi Vahed, Sahand Tehrani Fateh, Farzad Hashemi-Gorji et autres

Krabbe disease (KD, OMIM #245200) is a rare autosomal recessive lysosomal storage disorder characterized by severe demyelination affecting both the central and peripheral nervous systems. Here we report the clinical and molecular findings of two unrelated Iranian patients with KD, originating from …

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Genetically Predicted 25‐Hydroxyvitamin D Levels on Hypothyroidism: A Two‐Sample Mendelian Randomization

Mahdi Akbarzadeh, Sahand Tehrani Fateh, Aysan Moeinafshar, Danial Habibi et autres

Abstract Background Alterations in levels of 25-Hydroxyvitamin D have been associated with the risk of thyroid disease. This study uses Mendelian randomization (MR) to infer the possible causal association of 25-Hydroxyvitamin D with hypothyroidism. Methods We performed two-sample MR using the summary …

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Within-family analysis of PRS313: insights into breast cancer risk prediction

Sahand Tehrani Fateh, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Maryam Zarkesh et autres

and breast cancer risk (OR: 1.24, 95 % CI: 1.002-1.54). However, PRS differences between patients and their first- and second-degree relatives showed strong statistical significance. The monogenic variant analysis identified 21 loss-of-function (LOF) variants in the cohort, but only one (BRCA2 9976A …

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Artificial Intelligence in Diagnosis and Prognosis of Cognitive Impairment in Parkinson’s Disease

Aysan Moeinafshar, Amir Reza Barati, Sahand Tehrani Fateh, Mohammad‐Taha Pahlevan‐Fallahy et autres

BACKGROUND: Parkinson's disease (PD), a progressive neurodegenerative disorder, affects millions globally, with cognitive impairment as a significant non-motor complication. These cognitive changes, ranging from mild cognitive impairment to severe dementia, drastically reduce quality of life and worsen prognosis. Early and accurate detection …

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Uncovering the Hidden Connections Between PCOS and Alzheimer’s Disease: A Two-Sample Mendelian Randomization Perspective

Farzaneh Motafeghi, Mahdi Akbarzadeh, Samaneh Talebi, Danial Habibi et autres

Background: Polycystic ovary syndrome (PCOS) and Alzheimer's disease (AD) are two prevalent and complex conditions characterized by overlapping features such as metabolic dysfunction, hormonal imbalance, and chronic inflammation. These commonalities raise the possibility of a shared causal pathway. However, observational studies often …

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Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet–Biedl Syndrome

Mohammad Reza Seyedtaghia, Mohsen Habibi, Feyzollah Hashemi‐Gorji, Sahand Tehrani Fateh et autres

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Interaction between 3-SNP genetic risk score and dietary fats intake on inflammatory markers among overweight and obese women

Sahand Tehrani Fateh, Farideh Shiraseb, Mohammad Mahdi Hajinasab, Sahar Noori et autres

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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi et autres

BACKGROUND: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID …

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Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, Dalila Moualek et autres

Abstract Biallelic NDUFA9 variants have hitherto been associated with disease in four individuals. Hence, clinicogenetic features of NDUFA9-related disorder remain largely unexplored. To delineate the pheno-genotypic spectrum of NDUFA9-related disorder, we screened genetic databases worldwide and collected phenotypic data on individuals with …

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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder ( MRXSHG )

Mohammad‐Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben‐Mahmoud, Vijay Gupta et autres

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a …

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