Article
Biochemistry & Molecular Biology
Stefanie Grabrucker, Jessica Pagano, Johanna Schweizer, Carolina Urrutia-Ruiz, Michael Schoen, Kevin Thome, Guenter Ehret, Andreas M. Grabrucker, Rong Zhang, Bastian Hengerer, Juergen Bockmann, Chiara Verpelli, Carlo Sala, Tobias M. Boeckers
Summary: Shank2 deficiency in mice leads to a lack of social bonding behavior towards pups, but enhancing activity in the medial preoptic area of the hypothalamus can restore social bonding behavior.
Article
Genetics & Heredity
Carla Lintas, Ilaria Cassano, Alessia Azzara, Maria Grazia Stigliano, Chiara Gregorj, Roberto Sacco, Andrea Stoccoro, Fabio Coppede, Fiorella Gurrieri
Summary: Neurodevelopmental Disorders (NDs) are a group of heterogeneous diseases with both genetic and environmental factors. Epigenetic dysregulation driven by adverse environmental factors has been found in neurodevelopmental disorders, potentially contributing to their onset. This study focused on analyzing the methylation profile of four well-known neurodevelopment-related genes in mothers of AS, ADHD, and typically developing children, and found significant methylation increases in certain genes in AS mothers compared to ADHD and healthy control mothers. This dysregulation in AS mothers could potentially affect their children's condition and merits further investigation.
Article
Biochemistry & Molecular Biology
Amanda Brignell, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A. Sheppard, David J. Amor, Angela T. Morgan
Summary: Communication difficulties are common in individuals with Phelan-McDermid syndrome, with 45% being non-verbal. Adaptive behavior is notably low in all areas, particularly in communication compared to daily living and socialization.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Julia S. Lord, Sean M. Gay, Kathryn M. Harper, Viktoriya D. Nikolova, Kirsten M. Smith, Sheryl S. Moy, Graham H. Diering
Summary: This study suggests that sleep disruption in early life is associated with lasting and sex-specific changes in behavior among individuals with underlying genetic vulnerability to ASD. The study highlights the importance of developmental sleep disruption as a vulnerability in ASD susceptibility.
Article
Multidisciplinary Sciences
Yujie Liang, Hong Yu, Xiaoyin Ke, Darryl Eyles, Ruoyu Sun, Zichen Wang, Saijun Huang, Ling Lin, John J. McGrath, Jianping Lu, Xiaoling Guo, Paul Yao
Summary: This study suggests that vitamin D deficiency may exacerbate autism-related phenotypes induced by maternal diabetes, primarily through epigenetic mechanisms.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2021)
Review
Cell Biology
You-Wei Wang, Nan Hu, Xiao-Hong Li
Summary: Revealing the mechanisms of neural development and neural diseases is a challenging task in life science. Brain organoids derived from pluripotent stem cells can mimic the development, function, and signal generation of human brains, providing a unique advantage for studying neurology. Single-cell RNA sequencing and multielectrode array analysis have shown the similarity between brain organoids and the immature human brain at early developmental stages.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Cell Biology
Hsiu-Wen Chang, Ming-Jen Hsu, Li-Nien Chien, Nai-Fang Chi, Meng-Chieh Yu, Hsiu-Chen Chen, Yuan-Feng Lin, Chaur-Jong Hu
Summary: Increased medical attention is needed as the prevalence of autism spectrum disorder (ASD) rises. This study found that Shank3 plays a key genetic role in the development of cardiovascular disorders (CVD) and hyperlipidemia in young adults with ASD. Regulating Shank3 expression may reduce inflammation-related disorders, such as atherosclerosis.
Review
Medicine, General & Internal
Giuseppe Quatrosi, Dario Genovese, Emanuele Amodio, Gabriele Tripi
Summary: Autism spectrum disorders are neurodevelopmental disorders with deficits in social interactions and communication, affecting the family unit. This scoping review explores the quality of life (QoL) of non-autistic siblings of autistic individuals. Results show that non-autistic siblings experience decreased psychological well-being, less social support, increased aggressiveness, and higher levels of anxiety and stress impacting their QoL. The findings highlight the need for further research and support services for non-autistic siblings of autistic individuals.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
Gentilini Davide, Cavagnola Rebecca, Possenti Irene, Calzari Luciano, Ranucci Francesco, Nola Marta, Olivola Miriam, Brondino Natascia, Politi Pierluigi
Summary: The present study used a multi-level approach to explore the epigenetics of Autism Spectrum Disorders (ASD). The findings demonstrated a significant epigenetic signature of ASD in blood samples, but not in brain specimens. Epigenetic drift was found to be significantly higher in ASD patients compared to controls, and rare epigenetic variations associated with ASD were identified in several genes.
CURRENT NEUROPHARMACOLOGY
(2023)
Review
Psychology, Developmental
Mark H. Johnson, Tony Charman, Andrew Pickles, Emily J. H. Jones
Summary: The AMEND framework aims to redefine the field of future research on neurodevelopmental disorders by proposing methods to separate early-stage disturbance markers from later developmental modifiers. Understanding how different perturbations and modifiers interact to produce phenotypic outcomes can advance both theoretical understanding and clinical approaches to developmental psychopathology in early childhood.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Psychology, Developmental
Banu Ahtam, Hyuk Jin Yun, Rutvi Vyas, Rudolph Pienaar, Josephine H. Wilson, Caroline P. Goswami, Laura F. Berto, Simon K. Warfield, Mustafa Sahin, P. Ellen Grant, Jurriaan M. Peters, Kiho Im
Summary: A significant number of individuals with Tuberous Sclerosis Complex (TSC) experience language difficulties. This study examined the brain morphometry related to language in different groups, including TSC with and without Autism Spectrum Disorder (ASD), ASD-only, and typically developing controls. The results show that both ASD and TSC-ASD groups have differences in cortical thickness and curvature in multiple language regions compared to other groups. These findings suggest that comorbid ASD in TSC and tuber load in TSC may contribute to changes in the morphometry of language regions. Larger sample sizes are needed to confirm these preliminary findings.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Biology
Lian Duan, Jiaxin Liu, Huamin Yin, Wenhang Wang, Li Liu, Jingling Shen, Zhendong Wang
Summary: Maternal immune activation during pregnancy is a known environmental risk factor for neurodevelopment and autism spectrum disorder (ASD). This study aimed to identify the specific fetal brain developmental windows and regions where maternal immune activation induces ASD-related neurodevelopmental transcriptional abnormalities. By analyzing the differentially expressed genes (DEGs) and performing gene set and functional enrichment analyses, the researchers found that maternal immune activation dysregulated non-chasm DEGs involved in ASD-relevant synaptic components, immune- and metabolism-related functions and pathways during the coinciding brain developmental windows between humans and mice. Furthermore, overlap of non-chasm brain development-, immune-, and metabolism-related DEGs in existing ASD-associated databases suggests that these genes could serve as candidate targets for modeling ASD pathogenesis when environmental factors (MIA) and gene mutation effects co-occur.
COMPUTERS IN BIOLOGY AND MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Li Liu, Xin Qi, Shiqiang Cheng, Peilin Meng, Xuena Yang, Chuyu Pan, Na Zhang, Yujing Chen, Chune Li, Huijie Zhang, Zhen Zhang, Jingxi Zhang, Bolun Cheng, Yan Wen, Yumeng Jia, Huan Liu, Feng Zhang
Summary: By studying the epigenetic brain aging of individuals with autism spectrum disorder (ASD) and schizophrenia (SCZ), it was found that there are aberrant aging patterns in the cerebellum of older adults with these disorders. However, further studies with larger cohorts are needed to confirm these findings.
MOLECULAR PSYCHIATRY
(2023)
Review
Neurosciences
Min Huang, Qi Qi, Tao Xu
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication, social interaction, and repetitive behaviors. Mutations in SH3 and multiple ankyrin repeat domain protein 3 (SHANK3) genes have been associated with ASD. These genes play a crucial role in synaptic transmission and plasticity, suggesting that synaptic dysfunction may contribute to the pathogenesis of ASD. This review summarizes the mechanisms of Shank3-related synapses in ASD and discusses experimental models and current treatment methods targeting related proteins.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Albert S. S. Agustinus, Duaa Al-Rawi, Bhargavi Dameracharla, Ramya Raviram, Bailey S. C. L. Jones, Stephanie Stransky, Lorenzo Scipioni, Jens Luebeck, Melody Di Bona, Danguole Norkunaite, Robert M. M. Myers, Mercedes Duran, Seongmin Choi, Britta Weigelt, Shira Yomtoubian, Andrew McPherson, Eleonore Toufektchan, Kristina Keuper, Paul S. S. Mischel, Vivek Mittal, Sohrab P. P. Shah, John Maciejowski, Zuzana Storchova, Enrico Gratton, Peter Ly, Dan Landau, Mathieu F. F. Bakhoum, Richard P. P. Koche, Simone Sidoli, Vineet Bafna, Yael David, Samuel F. F. Bakhoum
Summary: This study shows that chromosomal instability and epigenetic alterations are mechanically linked in advanced and metastatic cancers. Misalignment of mitotic chromosomes and rupture of the micronuclear envelope disrupt normal histone post-translational modifications. Micronuclei exhibit differences in chromatin accessibility, leading to epigenetic dysregulation and heritable abnormalities in chromosome accessibility. Chromosomal instability not only alters genomic copy number but also promotes epigenetic reprogramming and heterogeneity in cancer.
Article
Gastroenterology & Hepatology
Yi-Ju Li, Elizabeth J. Phillips, Andrew Dellinger, Paola Nicoletti, Ryan Schutte, Danmeng Li, David A. Ostrov, Robert J. Fontana, Paul B. Watkins, Andrew Stolz, Ann K. Daly, Guruprasad P. Aithal, Huiman Barnhart, Naga Chalasani
Summary: HLA-B*14:01 is associated with TMP-SMX DILI in European Americans, and HLA-B*35:01 may be a potential genetic risk factor for African Americans.
Article
Genetics & Heredity
Eden R. Martin, Xiaoyi R. Gao, Yi-Ju Li
Summary: Results show that the case-control risk test has higher power than the case-only AAO test in simpler models, but the relationship reverses in more complex models. The joint test generally outperforms individual risk or AAO tests, making it a powerful alternative in many scenarios.
GENETIC EPIDEMIOLOGY
(2021)
Article
Gastroenterology & Hepatology
Jay H. Hoofnagle, Herbert L. Bonkovsky, Elizabeth J. Phillips, Yi-Ju Li, Jawad Ahmad, Huiman Barnhart, Francisco Durazo, Robert J. Fontana, Jiezhun Gu, Ikhlas Khan, David E. Kleiner, Christopher Koh, Don C. Rockey, Leonard B. Seeff, Jose Serrano, Andrew Stolz, Hans L. Tillmann, Raj Vuppalanchi, Victor J. Navarro
Summary: Green tea-related liver injury has distinctive clinical features and a close association with HLA-B*35:01, suggesting that it is idiosyncratic and immune mediated.
Article
Gastroenterology & Hepatology
Raj Vuppalanchi, Herbert L. Bonkovsky, Jawad Ahmad, Huiman Barnhart, Francisco Durazo, Robert J. Fontana, Jiezhun Gu, Ikhlas Khan, David E. Kleiner, Christopher Koh, Don C. Rockey, Elizabeth J. Phillips, Yi-Ju Li, Jose Serrano, Andrew Stolz, Hans L. Tillmann, Leonard B. Seeff, Jay H. Hoofnagle, Victor J. Navarro
Summary: This study finds that both Garcinia cambogia and green tea can cause liver injury, with similar clinical presentations. The possible association with the HLA-B*35:01 allele suggests an immune-mediated mechanism of injury.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Genetics & Heredity
Qiao Fan, Shuming Sun, Yi-Ju Li
Summary: A new gene-based association test was developed to model count data with excessive zeros in genetic studies, providing a more powerful method to assess the association between genetic variants and diseases. Through simulations and analysis of real data from the ROSMAP cohort, the new method showed advantages in dealing with zero-inflated count data. This method could potentially outperform the traditional two-stage methods in analyzing such types of data.
GENETIC EPIDEMIOLOGY
(2022)
Meeting Abstract
Clinical Neurology
Jay B. Lusk, Li Liu, Daniel P. Weikel, Yi-Ju Li, Padmini Sekar, Stacie L. Demel, Yasmin Aziz, Daniel Woo, Michael L. James
Meeting Abstract
Peripheral Vascular Disease
Pao-Hwa Lin, David Lopez, Yi-Ju Li, Friedrich Cameron C. Luft, Francis Neelon, Philip Klemmer, Anthony Kuo, Scott Sanoff
Article
Gastroenterology & Hepatology
Naga Chalasani, Yi-Ju Li, Andrew Dellinger, Victor Navarro, Herbert Bonkovsky, Robert J. Fontana, Jiezhun Gu, Huiman Barnhart, Elizabeth Phillips, Craig Lammert, Tae-Hwi Schwantes-An, Paola Nicoletti, David E. Kleiner, Jay H. Hoofnagle
Summary: This study describes the clinical characteristics, outcomes, and HLA risk factors for nitrofurantoin-induced liver injury (NTF-DILI) among individuals enrolled in the Drug Induced Liver Injury Network (DILIN). Long-term use of NTF can result in parenchymal necrosis, bridging fibrosis, cirrhosis, and death or liver transplantation, and is associated with HLA-DRB1*11:04. Regulators should revise the prescribing information and consider other mitigation strategies.
JOURNAL OF HEPATOLOGY
(2023)
Article
Clinical Neurology
Yi Ju Li, Karen Nuytemans, Jong Ok La, Rong Jiang, Susan H. Slifer, Shuming Sun, Adam Naj, Xiaoyi Raymond Gao, Eden R. Martin
ALZHEIMERS & DEMENTIA
(2023)
Article
Gastroenterology & Hepatology
Paola Nicoletti, Andrew Dellinger, Yi Ju Li, Huiman X. Barnhart, Naga Chalasani, Robert J. Fontana, Joseph A. Odin, Jose Serrano, Andrew Stolz, Amy S. Etheridge, Federico Innocenti, Olivier Govaere, Jane I. Grove, Camilla Stephens, Guruprasad P. Aithal, Raul J. Andrade, Einar S. Bjornsson, Ann K. Daly, M. Isabel Lucena, Paul B. Watkins
Summary: In this study, the researchers found new genetic risk factors for amoxicillin-clavulanate-induced liver injury (AC-DILI) and developed a genetic risk score (GRS) to assess the likelihood of AC-DILI occurrence. The study identified low expression of ERAP2 and the presence of HLA-B*15:18 as novel risk factors for AC-DILI.
Article
Multidisciplinary Sciences
Xiaoyi Raymond Gao, Marion Chiariglione, Ke Qin, Karen Nuytemans, Douglas W. Scharre, Yi-Ju Li, Eden R. Martin
Summary: By constructing polygenic risk scores (PRSs) and using machine learning models, this study predicts the development of Alzheimer's disease (AD) and explores the importance of PRSs, conventional risk factors, and ICD-10 codes. The PRSs are found to be more important predictors than age for late-onset AD. The machine learning model also identifies important predictors from electronic health records, such as urinary tract infection, syncope and collapse, chest pain, disorientation, and hypercholesterolemia.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Kaile Zhou, Yi-Ju Li, Erik J. Soderblom, Alexander Reed, Vaibhav Jain, Shuming Sun, M. Arthur Moseley, Virginia Byers Kraus
Summary: This study aimed to identify blood markers for predicting clinically relevant knee osteoarthritis (OA) progression over 48 months. A set of 15 serum proteomic markers corresponding to 13 proteins showed a high accuracy (73% AUC) in differentiating progressors from nonprogressors in a cohort of 596 knee OA patients. The predictive power of these blood markers was superior to traditional methods and the current best-in-class biomarker for OA progression. The findings were also confirmed in a second cohort of 86 individuals, further validating the generalizability of the marker set.
Article
Cardiac & Cardiovascular Systems
Jay B. Lusk, Anna Covington, Li Liu, Daniel P. Weikel, Yi-Ju Li, Padmini Sekar, Stacie L. Demel, Yasmin N. Aziz, Chelsea S. Kidwell, Daniel Woo, Michael L. James
Summary: The study evaluated the association between hyperglycemia, ischemic lesions, and functional outcomes after intracerebral hemorrhage (ICH). It found that a medical history of diabetes and the presence of DWI lesions were independently associated with poor functional outcomes after ICH, but no association was found between hyperglycemia and DWI lesions.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Meeting Abstract
Anesthesiology
Sean Moore, Julien Cobert, Zachary Frere, Matthew Fuller, Yi-Ju Li, Tetsu Ohnuma, Michael L. Kent, Krista L. Haines, Allyson Cook, Peter Lindenauer, Mihaela Stefan, Vijay Krishnamoorthy, Karthik Raghunathan
ANESTHESIA AND ANALGESIA
(2022)
Meeting Abstract
Anesthesiology
Daneel Patoli, Julien Cobert, Vijay Krishnamoorthy, Tetsu Ohnuma, Zachary Frere, Matthew Fuller, Yi-Ju Li, Galen Royce-Nagel, Krista L. Haines, Karthik Raghunathan
ANESTHESIA AND ANALGESIA
(2022)