Article
Genetics & Heredity
Duncan S. Palmer, Daniel P. Howrigan, Sinead B. Chapman, Rolf Adolfsson, Nick Bass, Douglas Blackwood, Marco P. M. Boks, Chia-Yen Chen, Claire Churchhouse, Aiden P. Corvin, Nicholas Craddock, David Curtis, Arianna Di Florio, Faith Dickerson, Nelson B. Freimer, Fernando S. Goes, Xiaoming Jia, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, Mikael Landen, Adam E. Locke, Andrew M. McIntosh, Andrew McQuillin, Derek W. Morris, Michael C. O'Donovan, Roel A. Ophoff, Michael J. Owen, Nancy L. Pedersen, Danielle Posthuma, Andreas Reif, Neil Risch, Catherine Schaefer, Laura Scott, Tarjinder Singh, Jordan W. Smoller, Matthew Solomonson, David St Clair, Eli A. Stahl, Annabel Vreeker, James T. R. Walters, Weiqing Wang, Nicholas A. Watts, Robert Yolken, Peter P. Zandi, Benjamin M. Neale
Summary: Exome sequencing analysis of individuals with bipolar disorder reveals enrichment of ultra-rare protein-truncating variants in constrained genes. AKAP11 is identified as a risk gene for both bipolar disorder and schizophrenia. This study highlights the importance of rare coding variation in the development of bipolar disorder.
Article
Chemistry, Medicinal
Noor B. Almandil, Abdulla AlSulaiman, Sumayh A. Aldakeel, Deem N. Alkuroud, Halah Egal Aljofi, Safah Alzahrani, Aishah Al-mana, Asma A. Alfuraih, Majed Alabdali, Fahd A. Alkhamis, Sayed AbdulAzeez, J. Francis Borgio
Summary: This study integrated transcriptome and exome genotyping data to identify functional variants associated with autism spectrum disorder and their impact on gene expression. Significant differences were found in gene expression between autistic patients and controls. In addition, the study identified important genetic variants associated with autism spectrum disorder in Arab populations.
Article
Genetics & Heredity
Seyed Mohammad Ghoreishifar, Christina Marie Rochus, Sima Moghaddaszadeh-Ahrabi, Pourya Davoudi, Siavash Salek Ardestani, Natalia A. Zinovieva, Tatiana E. Deniskova, Anna M. Johansson
Summary: The Gotland sheep, a breed from Sweden, has unique ancestral genomic components while also sharing genes with other breeds. This study identified selection signatures in the breed and highlighted candidate genes related to wool quality, horned phenotypes, fertility, and other economically important traits in sheep.
Article
Psychology, Developmental
Richard Ahlberg, Miguel Garcia-Argibay, Tatja Hirvikoski, Marcus Boman, Qi Chen, Mark J. Taylor, Emma Frans, Sven Bolte, Henrik Larsson
Summary: This study found that individuals with ASD and their relatives are at increased risk for obesity, with males potentially having a higher relative risk than females. Further research is needed to investigate potential common pleiotropic genetic factors and shared family-wide environmental factors between ASD and obesity.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2022)
Article
Genetics & Heredity
Namshin Kim, Kyoung Hyoun Kim, Won-Jun Lim, Jiwoong Kim, Soon Ae Kim, Hee Jeong Yoo
Summary: This study aimed to identify genetic risk factors of ASD through rare de novo variants using whole exome sequencing and genetic network analyses in Korean familial dataset. It identified 36 de novo variants potentially related to ASD, with interactions between variants commonly observed in NF-kappa B signaling pathway. The small cohort size may affect results, but the study provides insights into novel ASD genes.
Article
Genetics & Heredity
Biao Zeng, Jaroslav Bendl, Roman Kosoy, John F. Fullard, Gabriel E. Hoffman, Panos Roussos
Summary: This study utilized the multivariate multiple QTL approach to analyze expression quantitative trait loci (eQTLs) in a multi-ancestry sample, revealing the genetic characteristics of gene expression in the human brain and identifying potential causal variants and genes associated with brain-related traits. The integration of eQTLs and GWAS data allowed for the identification of candidate causal variants and regulation mechanisms for diseases such as schizophrenia, bipolar disorder, and Alzheimer's disease.
Review
Radiology, Nuclear Medicine & Medical Imaging
Faranak Rafiee, Roya Rezvani Habibabadi, Mina Motaghi, David M. Yousem, Ilyssa J. Yousem
Summary: Autism spectrum disorder (ASD) is a continuum of neuropsychiatric disorders characterized by persistent deficits in social communication and restricted repetitive behavior patterns. Early detection and intervention can improve social interaction deficits, with various imaging methods and molecular techniques developed for early identification of ASD characteristics. Structural, functional, and molecular imaging clues have been identified, highlighting theories such as exaggerated synaptic pruning and excitatory glutamate/inhibitory GABA imbalance in ASD.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
Article
Biochemistry & Molecular Biology
Shiqiang Cheng, Bolun Cheng, Li Liu, Xuena Yang, Peilin Meng, Yao Yao, Chuyu Pan, Jingxi Zhang, Chun'e Li, Huijie Zhang, Yujing Chen, Zhen Zhang, Yan Wen, Yumeng Jia, Feng Zhang
Summary: This study utilized the UK Biobank dataset to conduct an exome-wide association study on major depression disorder (MDD), identifying multiple rare genetic variants associated with MDD. These findings contribute to a broader understanding of the genetic basis of MDD.
MOLECULAR PSYCHIATRY
(2022)
Article
Cell Biology
Yasmeen Niazi, Nagarajan Paramasivam, Joanna Blocka, Abhishek Kumar, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam De Jong, Brian Durie, Hartmut Goldschmidt, Kari Hemminki, Asta Foersti
Summary: Multiple myeloma (MM) is a plasma cell malignancy characterized by the over-propagation of a single clone of plasma cells in the bone marrow. The genetic basis of familial MM, particularly within the non-coding genome, is still not well understood. In this study, whole-genome sequencing data was used to identify and characterize variants in the non-coding genome of MM families. The findings confirmed previously implicated biological pathways in MM development and identified 10 genes involved in mitogen-activated protein kinase (MAPK) signaling pathways, which are known to be important in MM.
Article
Neurosciences
Judith Goris, Senne Braem, Shauni Van Herck, Jonas Simoens, Eliane Deschrijver, Jan R. Wiersema, Bryan Paton, Marcel Brass, Juanita Todd
Summary: Findings suggest that individuals with autism exhibit faster model updating during early sensory processing, resulting in less influence from the initial context.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Psychology, Biological
Gabriel Cuellar-Partida, Joyce Y. Tung, Nicholas Eriksson, Eva Albrecht, Fazil Aliev, Ole A. Andreassen, Ines Barroso, Jacques S. Beckmann, Marco P. Boks, Dorret I. Boomsma, Heather A. Boyd, Monique M. B. Breteler, Harry Campbell, Daniel I. Chasman, Lynn F. Cherkas, Gail Davies, Eco J. C. de Geus, Ian J. Deary, Panos Deloukas, Danielle M. Dick, David L. Duffy, Johan G. Eriksson, Tonu Esko, Bjarke Feenstra, Frank Geller, Christian Gieger, Ina Giegling, Scott D. Gordon, Jiali Han, Thomas F. Hansen, Annette M. Hartmann, Caroline Hayward, Kauko Heikkila, Andrew A. Hicks, Joel N. Hirschhorn, Jouke-Jan Hottenga, Jennifer E. Huffman, Liang-Dar Hwang, M. Arfan Ikram, Jaakko Kaprio, John P. Kemp, Kay-Tee Khaw, Norman Klopp, Bettina Konte, Zoltan Kutalik, Jari Lahti, Xin Li, Ruth J. F. Loos, Michelle Luciano, Sigurdur H. Magnusson, Massimo Mangino, Pedro Marques-Vidal, Nicholas G. Martin, Wendy L. McArdle, Mark I. McCarthy, Carolina Medina-Gomez, Mads Melbye, Scott A. Melville, Andres Metspalu, Lili Milani, Vincent Mooser, Mari Nelis, Dale R. Nyholt, Kevin S. O'Connell, Roel A. Ophoff, Cameron Palmer, Aarno Palotie, Teemu Palviainen, Guillaume Pare, Lavinia Paternoster, Leena Peltonen, Brenda W. J. H. Penninx, Ozren Polasek, Peter P. Pramstaller, Inga Prokopenko, Katri Raikkonen, Samuli Ripatti, Fernando Rivadeneira, Igor Rudan, Dan Rujescu, Johannes H. Smit, George Davey Smith, Jordan W. Smoller, Nicole Soranzo, Tim D. Spector, Beate St Pourcain, John M. Starr, Hreinn Stefansson, Stacy Steinberg, Maris Teder-Laving, Gudmar Thorleifsson, Kari Stefansson, Nicholas J. Timpson, Andre G. Uitterlinden, Cornelia M. van Duijn, Frank J. A. van Rooij, Jaqueline M. Vink, Peter Vollenweider, Eero Vuoksimaa, Gerard Waeber, Nicholas J. Wareham, Nicole Warrington, Dawn Waterworth, Thomas Werge, H. -Erich Wichmann, Elisabeth Widen, Gonneke Willemsen, Alan F. Wright, Margaret J. Wright, Mousheng Xu, Jing Hua Zhao, Peter Kraft, David A. Hinds, Cecilia M. Lindgren, Reedik Magi, Benjamin M. Neale, David M. Evans, Sarah E. Medland
Summary: A genome-wide association study of 1.7 million individuals identified 41 genetic variants associated with left-handedness and 7 associated with ambidexterity. The genetic correlation between the traits was low, thereby implying different aetiologies.
NATURE HUMAN BEHAVIOUR
(2021)
Article
Oncology
Jakob Landau, Linoy Tsaban, Adar Yaacov, Gil Ben Cohen, Shai Rosenberg
Summary: Driver mutations provide tumors with selective advantages and cause various pathogenic effects. Understanding the function of somatic variants is crucial in cancer biology and treatment selection. In this study, a shared dataset from multiple cancer genomic databases was compiled, and two measures were used to analyze 535 cancer genes. The tumor variant amplitude (TVA) outperformed other computational tools in predicting functional scores of cancer mutations, drug response, overall survival, and clinical implications in relevant cancer genes. This study highlights the importance of a large cancer dataset in understanding the impact of driver variants and their clinical implications.
Review
Genetics & Heredity
Mengyu Lim, Alessandro Carollo, Dagmara Dimitriou, Gianluca Esposito
Summary: This study used document co-citation analysis to systematically review literature on ASD genetic research from 2018 to 2022 and identified 12 major clusters representing different sub-topics in the field.
Article
Biotechnology & Applied Microbiology
Mayank Kaashyap, Sukhjiwan Kaur, Rebecca Ford, David Edwards, Kadambot H. M. Siddique, Rajeev K. Varshney, Nitin Mantri
Summary: Salinity severely affects the yield of chickpea. Understanding the role of lncRNAs can shed light on chickpea salt tolerance mechanisms. Through deep sequencing of two parental genotypes with different salt tolerance abilities, a large number of lncRNAs responding to salt stress were identified. These lncRNAs play important roles in post-transcriptional modification and gene silencing. Differentially expressed lncRNAs induced in the tolerant genotype but repressed in the sensitive genotype interact with flowering-related genes, chromatin remodeling, and DNA methylation genes, playing a crucial role in flowering under salt stress. These findings expand our understanding of the regulatory mechanisms controlled by lncRNAs under salt stress.
PLANT BIOTECHNOLOGY JOURNAL
(2022)
Article
Pediatrics
Amy Pan, Sierra Scodellaro, Tayyaba Khan, Inna Ushcatz, Wendy Wu, Meredith Curtis, Eyal Cohen, Ronald D. Cohn, Robin Z. Hayeems, M. Stephen Meyn, Julia Orkin, Jaskiran Otal, Miriam S. Reuter, Susan Walker, Stephen W. Scherer, Christian R. Marshall, Iris Cohn, Gregory Costain
Summary: Genome-wide sequencing can provide clinically relevant pharmacogenetic information for children with medical complexity, enabling precision prescribing practices throughout their lifelong care.
PEDIATRIC RESEARCH
(2023)
Article
Behavioral Sciences
Zhengyang Zhou, Hung-Chih Ku, Sydney E. Manning, Ming Zhang, Chao Xing
Summary: This study presents a flexible statistical procedure to detect gene-environment interaction (GxE) regardless of whether the underlying relationship is linear or not. By modeling the joint genetic and GxE effects as a varying-coefficient function of the environmental factor, the proposed model is able to capture dynamic trajectories of GxE. A likelihood ratio test with a fast Monte Carlo algorithm is employed for hypothesis testing. Simulations and real data analysis demonstrate the validity and power of the proposed model in various settings, especially for nonlinear GxE.
Article
Psychiatry
Nathan A. Kimbrel, Allison E. Ashley-Koch, Xue J. Qin, Jennifer H. Lindquist, Melanie E. Garrett, Michelle F. Dennis, Lauren P. Hair, Jennifer E. Huffman, Daniel A. Jacobson, Ravi K. Madduri, Jodie A. Trafton, Hilary Coon, Anna R. Docherty, Niamh Mullins, Douglas M. Ruderfer, Philip D. Harvey, Benjamin H. McMahon, David W. Oslin, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser
Summary: This study aimed to identify the genetic basis of suicidal thoughts and behaviors. Through genome-wide association analysis, several risk loci for suicide were identified, and some of these loci were replicated in independent samples, providing evidence for their involvement in suicide.
Article
Genetics & Heredity
Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Vissers E. L. M. Lisenka, Siddharth Banka, Rolph Pfundt, Bert B. A. de Vries, Richard H. van Jaarsveld, Saskia M. J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortuem, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibaek, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, Maria Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria Jose Simoes, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Danielle G. M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Benedicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Riess, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C. E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gael Nicolas, Hanna Kuepper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E. L. M. Vissers, Jamie M. Kramer, Tjitske Kleefstra
Summary: This study examines the clinical and molecular spectrum of individuals with KDM6B variants and challenges the accuracy of the current description of the disorder. Cognitive deficits are consistently observed, but the overall phenotype varies greatly. The study also demonstrates the disruptive effect of certain KDM6B variants on protein structure and introduces a functional testing paradigm for assessing these variants. The findings highlight the importance of international collaboration and rigorous functional analysis in diagnosing rare disorders.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox
Summary: AMOTL1 encodes angiomotin-like protein 1, a protein that regulates cell polarity, adhesion, and migration. Variants in AMOTL1 are associated with orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations. The study suggests that missense variants in AMOTL1, particularly in the region affecting amino acids 157-161, define a new orofacial clefting syndrome and highlight the importance of this region in its function.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Claudia I. Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, Jaqueline Yu Ting Wang, Marilia Scliar, Frederico Monfardini, Elaine Cristina Zachi, Naila C. V. Lourenco, Ada J. S. Chan, Sergio L. Pereira, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Mehdi Zarrei, Stephen W. Scherer, Maria Rita Passos-Bueno
Summary: De novo variants (DNVs) analysis has been shown to be a powerful method for gene discovery in Autism Spectrum Disorder (ASD), but it has not been proven in a Brazilian ASD cohort. This study aimed to investigate the relevance of de novo and inherited variants through three-generation analysis of DNVs. Whole-exome sequencing was performed on 33 septet families, and the DNV rates (DNVr) were compared between generations and control cohorts. The results showed a marginally higher DNVr in probands compared to parents and controls, and most DNVs were found to have paternal origin in both generations. Additionally, several DNVs in parents were identified as ASD candidate genes. These findings further highlight the importance of DNVs in ASD.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Editorial Material
Genetics & Heredity
Jacob A. S. Vorstman, Stephen W. Scherer
GENETICS IN MEDICINE
(2023)
Article
Pharmacology & Pharmacy
Luciana Bertholim-Nasciben, Marilia O. Scliar, Guilherme Debortoli, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Yeda A. O. Duarte, Mayana Zatz, Guilherme Suarez-Kurtz, Esteban J. Parra, Michel S. Naslavsky
Summary: This study evaluated the frequency of pharmacogenomics markers in the Brazilian population using whole-genome sequencing. The findings showed that some variants may lead to high-risk gene-drug interactions. The study concluded that next-generation sequencing for pharmacogenomics testing is feasible in the Brazilian population.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Health Care Sciences & Services
Qiya Huang, Xianmei Lan, Hebing Chen, Hao Li, Yu Sun, Chao Ren, Chao Xing, Xiaochen Bo, Jizheng Wang, Xin Jin, Lei Song
Summary: This study used whole genome sequencing data and polygenic risk score models to estimate the genetic predisposition of stroke in the Chinese population and its association with disease burden. The results showed a north-south gradient in the genetic predisposition to stroke in China, and a strong correlation with blood pressure, body mass index, and alcohol use. Genetic risk accounted for an independent effect of 1-6% on stroke mortality, disability-adjusted life years, and years of life lost.
LANCET REGIONAL HEALTH-WESTERN PACIFIC
(2023)
Article
Biochemistry & Molecular Biology
Matthew B. McDougal, Anthony M. De Maria, Maikke B. Ohlson, Ashwani Kumar, Chao Xing, John W. Schoggins
Summary: Interferons control viral infection by inducing the expression of antiviral effector proteins encoded by interferon-stimulated genes (ISGs). Using CRISPR-based loss-of-function screens, this study identified a limited set of ISGs that mediate interferon-mediated suppression of Venezuelan equine encephalitis virus (VEEV). Combinatorial gene targeting revealed that three antiviral effectors, ZAP, IFIT3, and IFIT1, together constitute the majority of interferon-mediated restriction of VEEV, while accounting for < 0.5% of the interferon-induced transcriptome. These findings suggest a refined model of the antiviral interferon response.
Article
Biochemistry & Molecular Biology
Henry Oppermann, Elia Marcos-Graneda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoe Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tumer, Konrad Platzer
Summary: This study describes the clinical presentation in an extended cohort and investigates the molecular mechanism in a Cux1(+/-) mouse model. Disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype improves with age, resulting in a clinical catch-up and normal IQ in adulthood.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biology
Miriam S. Reuter, Dustin J. Sokolowski, J. Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A. Chiasson, Troy Ketela, Stephen W. Scherer, Michael D. Wilson, Edgar Jaeggi, Rajiv R. Chaturvedi
Summary: Low blood flow through the fetal left heart can lead to hypoplastic left heart syndrome (HLHS). In this study, mid-gestation fetal lambs were used to create left ventricular inflow obstruction (LVIO) to investigate the effects of decreased left heart flow. The results showed that significant LVIO led to clinical features similar to HLHS, including decreased aortic valve flow, retrograde perfusion, severe left heart hypoplasia, and changes in cellular composition and gene expression consistent with fibrosis and abnormal mesenchymal programs.
COMMUNICATIONS BIOLOGY
(2023)
Article
Chemistry, Medicinal
Leah S. Imlay, Aloysus K. Lawong, Suraksha Gahalawat, Ashwani Kumar, Chao Xing, Nimisha Mittal, Sergio Wittlin, Alisje Churchyard, Hanspeter Niederstrasser, Benigno Crespo-Fernandez, Bruce A. Posner, Francisco-Javier Gamo, Jake Baum, Elizabeth A. Winzeler, Benoit Laleu, Joseph M. Ready, Margaret A. Phillips
Summary: Current malaria treatments face the threat of drug resistance, necessitating the development of new drugs. Through a screening process, (S)-SW228703 ((S)-SW703) was identified as a potential antimalarial with activity against asexual blood and liver stages and a fast-killing profile. Resistance to (S)-SW703 is associated with mutations in the Plasmodium falciparum cyclic amine resistance locus (Pf CARL) and P. falciparum acetyl CoA transporter (PfACT). The discovery of (S)-SW703 offers a new chemical series with broad activity for multiple life-cycle stages and a fast-killing mechanism, which can be further optimized for malaria treatment.
ACS INFECTIOUS DISEASES
(2023)
Article
Cell Biology
Islam Oguz Tuncay, Darlene Devries, Ashlesha Gogate, Kiran Kaur, Ashwani Kumar, Chao Xing, Kimberly Goodspeed, Leah Seyoum-Tesfa, Maria H. Chahrour
Summary: This study investigates the genetics of autism spectrum disorder (ASD) in an East African population, revealing a higher prevalence of ASD and decreased genetic heterogeneity. The findings highlight the importance of African genetic variation and admixture analysis in understanding the genetic architecture of complex disorders.
Article
Medicine, Research & Experimental
Lei Bao, Ashwani Kumar, Ming Zhu, Yan Peng, Chao Xing, Jennifer E. Wang, Yingfei Wang, Weibo Luo
Summary: SAP30 is an important protein in breast cancer, and its upregulation is associated with unfavorable prognosis. Research has shown that SAP30 promotes tumor growth and metastasis through mechanisms other than canonical gene silencing. Additionally, SAP30 enhances cell motility, angiogenesis, and lymphangiogenesis by interacting with other proteins, thereby driving breast cancer progression.
JOURNAL OF CLINICAL INVESTIGATION
(2023)