Article
Multidisciplinary Sciences
Liang Chen, Weidi Wang, Wenxiang Cai, Weichen Song, Wei Qian, Guan Ning Lin
Summary: Deletions and duplications of chromosome 7q11.23 CNVs are associated with psychiatric disorders, with specific brain regions and developmental stages playing vital roles. 7q11.23 genes converge on the DNA repair pathway, impacting brain development and contributing to the pathogenesis of psychiatric diseases.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Nuzulul Kurniansyah, Danielle A. Wallace, Ying Zhang, Bing Yu, Brian Cade, Heming Wang, Heather M. Ochs-Balcom, Alexander P. Reiner, Alberto R. Ramos, Joshua D. Smith, Jianwen Cai, Martha Daviglus, Phyllis C. Zee, Robert Kaplan, Charles Kooperberg, Stephen S. Rich, Jerome Rotter, Sina A. Gharib, Susan Redline, Tamar Sofer
Summary: Sleep Disordered Breathing (SDB) is a common disease that increases the risk of cardiometabolic, cardiovascular, and cognitive diseases. However, the impact of SDB on the molecular environment is still poorly understood. This study investigates the association between SDB measures and gene expression using RNA-seq in multiple blood tissues. The findings suggest differential gene expression by blood cell type and provide potential markers for intervention development to alleviate the effects of SDB on the human molecular environment.
COMMUNICATIONS BIOLOGY
(2023)
Article
Genetics & Heredity
Jingjing Hu, Kun Yang, Yongchao Zhao, Zilun Wei, Lebing Yang, Rifeng Gao, Yonghui Wu, Lei Xu, Sujuan Xu, Kai Hu, Aijun Sun, Junbo Ge
Summary: The R225Q variant is associated with increased susceptibility to dilated cardiomyopathy (DCM), and its pathogenesis involves the activation of the WNT/beta-catenin signaling pathway. Antagonizing the WNT/beta-catenin pathway may be a potential therapeutic strategy for mitigating R225Q variant-related DCM.
JOURNAL OF MEDICAL GENETICS
(2022)
Review
Genetics & Heredity
Kangmei Zhao, Seung Yon Rhee
Summary: Pathway enrichment analysis is crucial for interpreting omics datasets and generating hypotheses. This article discusses best practices for interpreting different types of omics data using pathway enrichment analysis and emphasizes the importance of considering intrinsic features of various types of omics data. The article also explains key components that influence the outcomes of pathway enrichment analysis and provides guidance on reporting methodological details to improve reproducibility. It aims to serve as a primer for biologists to utilize omics resources and encourage bioinformatics tool developers to enhance the power of pathway enrichment analysis.
TRENDS IN GENETICS
(2023)
Article
Multidisciplinary Sciences
Zhi Huang, Gennifer E. Merrihew, Eric B. Larson, Jea Park, Deanna Plubell, Edward J. Fox, Kathleen S. Montine, Caitlin S. Latimer, C. Dirk Keene, James Y. Zou, Michael J. MacCoss, Thomas J. Montine
Summary: Resilience to Alzheimer's disease is a rare combination of high disease burden without dementia, which provides valuable insights into limiting clinical impact. Lowering soluble A beta concentration may suppress severe cognitive impairment along the Alzheimer's disease continuum.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Mengshi Sun, Mingze Ma, Bowen Deng, Na Li, Qionglin Peng, Yufeng Pan
Summary: This study reveals how hunger state affects female receptivity in fruit flies by elucidating the inhibitory role of adipokinetic hormone receptor neurons on sexual receptivity through interaction with specific neurons. The research also discovers that certain neurons suppress the activity of sex-promoting neurons through GABA signaling, integrating multiple internal and external cues for decision-making.
Article
Genetics & Heredity
Nana Liu, Jiayuan Xu, Huaigui Liu, Shijie Zhang, Miaoxin Li, Yao Zhou, Wen Qin, Mulin Jun Li, Chunshui Yu
Summary: The study identifies 24 genes associated with Alzheimer's disease (AD) in hippocampal tissue and shows these genes are related to AD-related biological processes. It also demonstrates that hippocampal volume mediates the effects of hippocampal gene expression of QPCTL and ERCC2 on AD. These findings contribute to a better understanding of the genetic and neural mechanisms of AD.
Article
Biochemistry & Molecular Biology
Jiamin Zhou, Weiqi Xu, Yibin Wu, Miao Wang, Ning Zhang, Longrong Wang, Yun Feng, Ti Zhang, Lu Wang, Anrong Mao
Summary: Liver metastases are commonly found in colorectal cancer patients and are associated with poor prognosis. The expression of GPR37 is significantly elevated in liver metastases of colorectal cancer. In mouse models, depletion of GPR37 suppresses liver metastasis. It has been shown that GPR37 knockdown inhibits tumor growth by reducing glycolysis and prevents neutrophil recruitment in the tumor microenvironment. Mechanistically, GPR37 activates the hippo pathway, leading to increased LDHA expression and glycolysis, resulting in changes in the tumor metabolism and microenvironment.
Article
Cell Biology
Rosario Yerbes, Rocio Mora-Molina, F. Javier Fernandez-Farran, Laura Hiraldo, Abelardo Lopez-Rivas, Carmen Palacios
Summary: This study reveals a previously unknown cell death mechanism triggered in glutamine-addicted tumor cells in response to glutamine metabolism limitation. The mechanism is regulated by GCN2 activation induced by glutamine starvation and involves the activation of the extrinsic apoptotic pathway mediated by TRAIL-R2.
CELL DEATH & DISEASE
(2022)
Article
Medicine, Research & Experimental
Jianmin Liu, Daoquan Liu, Xueneng Zhang, Yan Li, Xun Fu, Weixiang He, Mingzhou Li, Ping Chen, Guang Zeng, Michael E. DiSanto, Xinghuan Wang, Xinhua Zhang
Summary: This study revealed that NELL2 was up-regulated in BPH samples and localized in the stroma and the epithelium compartments of human prostate tissues. NELL2 deficiency induced cell apoptosis and inhibited cell proliferation, while overexpression of NELL2 promoted cell proliferation. NELL2 interference had no effect on EMT and fibrosis processes.
Article
Genetics & Heredity
Limei Wang, Weixin Xie, Kongning Li, Zhenzhen Wang, Xia Li, Weixing Feng, Jin Li
Summary: Dysregulated Pathway Identification Analysis (DysPIA) addresses limitations of current pathway analysis methods by incorporating individual level product correlation and constructing a more comprehensive gene-pair background. It demonstrates high accuracy in identifying causal pathways in simulation studies and outperforms other methods in analyzing p53 mutation data. DysPIA's practical applications in breast cancer datasets further highlight its effectiveness and biological significance.
FRONTIERS IN GENETICS
(2021)
Article
Psychiatry
Johannes C. S. Zang, Caroline May, Birte Hellwig, Dirk Moser, Jan G. Hengstler, Steve Cole, Markus Heinrichs, Joerg Rahnenfuehrer, Katrin Marcus, Robert Kumsta
Summary: The experience of childhood adversity has been linked to poor health outcomes in adulthood. Previous research focused on DNA methylation and transcriptomic profiles, while neglecting the level of proteins. Using mass spectrometry, this study examined the proteome of CD14(+) monocytes in adults with childhood adversity before and after psychosocial stress exposure. The results indicated upregulation of specific proteins related to immune processes, protein metabolism, and mitochondrial biology, especially in females.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Dermatology
Jamie L. Harden, Yi-Hsien Shih, Jin Xu, Rui Li, Divya Rajendran, Hans Hofland, Anne Lynn S. Chang
Summary: This study identified differentially expressed genes and proteins in PPR skin biopsy explants, highlighting the upregulation of MAPK and TNF signaling pathways in lesional tissue. The results suggest that IL-1 beta may play a central role in driving inflammation in PPR.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Medicine, Research & Experimental
Matthew J. Camiolo, Xiuxia Zhou, Qi Wei, Humberto E. Trejo Bittar, Naftali Kaminski, Anuradha Ray, Sally E. Wenzel
Summary: Asthma is a common disease with highly variable natural history and patient morbidity. Previous studies have linked gene expression changes in severe asthma to specific clinical and physiological characteristics. Using bronchial epithelial cell gene expression data, a transcriptional signature was identified for participants with exacerbation-prone asthma and impaired lung function. This approach identified a set of 31 genes that classified patients accurately and highlighted IL-18 signaling in severe asthma pathogenesis.
Article
Cell Biology
Joanne M. Hildebrand, Bernice Lo, Sara Tomei, Valentina Mattei, Samuel N. Young, Cheree Fitzgibbon, James M. Murphy, Abeer Fadda
Summary: The study identified a very rare heterozygous damaging mutation in MLKL, a gene associated with necroptosis, exclusively in diabetic family members, suggesting a potential role of impaired necroptosis in diabetes. On the other hand, a previously reported damaging mutation in PDX1 was found in a healthy sibling in the same family. These findings highlight the importance of family studies in understanding MODY's incomplete penetrance and support the involvement of dysregulated necroptosis in human disease.
CELL DEATH & DISEASE
(2021)
Article
Neurosciences
Hideo Hagihara, Vibeke S. Catts, Yuta Katayama, Hirotaka Shoji, Tsuyoshi Takagi, Freesia L. Huang, Akito Nakao, Yasuo Mori, Kuo-Ping Huang, Shunsuke Ishii, Isabella A. Graef, Keiichi I. Nakayama, Cynthia Shannon Weickert, Tsuyoshi Miyakawa
NEUROPSYCHOPHARMACOLOGY
(2018)
Article
Psychology, Clinical
C. A. Bousman, V. Cropley, P. Klauser, J. L. Hess, A. Pereira, R. Idrizi, J. Bruggemann, M. S. Mostaid, R. Lenroot, T. W. Weickert, S. J. Glatt, I. P. Everall, S. Sundram, A. Zalesky, C. S. Weickert, C. Pantelis
PSYCHOLOGICAL MEDICINE
(2018)
Article
Geriatrics & Gerontology
Adith Mohan, Anbupalam Thalamuthu, Karen A. Mather, Yiru Zhang, Vibeke S. Catts, Cynthia Shannon Weickert, Perminder S. Sachdev
NEUROBIOLOGY OF AGING
(2018)
Article
Geriatrics & Gerontology
Jiyang Jiang, Anbupalam Thalamuthu, Forrest C. Koch, Tao Liu, Qun Xu, Julian N. Trollor, David Ames, Margaret J. Wright, Vibeke Catts, Perminder S. Sachdev, Wei Wen
FRONTIERS IN AGING NEUROSCIENCE
(2019)
Article
Immunology
Helen Q. Cai, Thomas W. Weickert, Vibeke S. Catts, Ryan Balzan, Cherrie Galletly, Dennis Liu, Maryanne O'Donnell, Cynthia Shannon Weickert
BRAIN BEHAVIOR AND IMMUNITY
(2020)
Article
Behavioral Sciences
Daniel E. Gustavson, Matthew S. Panizzon, William S. Kremen, Chandra A. Reynolds, Shandell Pahlen, Marianne Nygaard, Mette Wod, Vibeke S. Catts, Teresa Lee, Margaret Gatz, Carol E. Franz
Summary: This study found that semantic fluency is associated with age and education, with a stronger impact of education on females. It also revealed that environmental influences do not vary by age, but differ based on education levels, with smaller environmental variance observed in males with higher levels of education.
Article
Clinical Neurology
Rebecca Koncz, Anbupalam Thalamuthu, Wei Wen, Vibeke S. Catts, Vincent Dore, Teresa Lee, Karen A. Mather, Melissa J. Slavin, Eva A. Wegner, Jiyang Jiang, Julian N. Trollor, David Ames, Victor L. Villemagne, Christopher C. Rowe, Perminder S. Sachdev
Summary: The study found that global amyloid burden has moderate heritability, ranging from 0.20 to 0.54 across different brain regions. There were no significant genetic or environmental correlations between global amyloid burden and markers of small vessel disease.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Demography
Deborah Finkel, Catalina Zavala, Carol E. Franz, Shandell Pahlen, Margaret Gatz, Nancy L. Pedersen, Brian K. Finch, Anna Dahl Aslan, Vibeke S. Catts, Malin Ericsson, Robert F. Krueger, Nicholas G. Martin, Adith Mohan, Miriam A. Mosing, Carol A. Prescott, Keith E. Whitfield
Summary: This study used data from multiple studies to examine the interaction between genes and environment, specifically in relation to self-rated health and financial strain. The results showed that financial strain moderates the genetic influences on self-rated health, with genetic variance increasing as financial strain increases. These findings support certain models that suggest reducing environmental stressors could help reduce genetically-based health disparities.
BIODEMOGRAPHY AND SOCIAL BIOLOGY
(2022)
Article
Geriatrics & Gerontology
Quoc Cuong Truong, Katya Numbers, Carol C. Choo, Adam C. Bentvelzen, Vibeke S. Catts, Matti Cervin, Anthony F. Jorm, Nicole A. Kochan, Henry Brodaty, Perminder S. Sachdev, Oleg N. Medvedev
Summary: This study used Rasch methodology to analyze the psychometric properties of the IQCODE-16 and validate the existing ordinal-to-interval transformation algorithms in multiple large samples. The findings support the reliability and validity of the IQCODE-16 in measuring cognitive changes among older adults. New ordinal-to-interval conversion tables were generated to improve the accuracy of scores without changing the original format. An easy-to-use converter has been made available for clinical and research use.
Review
Clinical Neurology
Satoshi Hosoki, Gurpreet K. Hansra, Tharusha Jayasena, Anne Poljak, Karen A. Mather, Vibeke S. Catts, Ruslan Rust, Abhay Sagare, Jason C. Kovacic, Amy Brodtmann, Anders Wallin, Berislav V. Zlokovic, Masafumi Ihara, Perminder S. Sachdev
Summary: This review examines the role of large and small vessel disease in vascular cognitive impairment and dementia (VCID) and considers the underlying pathophysiological processes that lead to vascular brain injury. It discusses the potential of key molecules involved in these processes as molecular biomarkers and the challenges in translating these biomarkers into clinical application.
NATURE REVIEWS NEUROLOGY
(2023)
Meeting Abstract
Behavioral Sciences
Teresa Lee, Anbupalam Thalamuthu, Ben Lam, Dansen Cho, Julie D. Henry, Margaret J. Wright, Julian N. Trollor, Vibeke S. Catts, Perminder Sachdev
Meeting Abstract
Behavioral Sciences
Shandell Pahlen, Carol E. Franz, William S. Kremen, Anna K. Dahl Aslan, Teresa Lee, Perminder Sachdev, Vibeke S. Catts, Chandra A. Reynolds
Meeting Abstract
Behavioral Sciences
Vibeke Catts, Anbupalam Thalamuthu, Teresa Lee, John Crawford, Perminder Sachdev
Article
Psychiatry
Yiru Zhang, Vibeke Sorensen Catts, Cynthia Shannon Weickert
AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
(2018)