Article
Plant Sciences
Heng Chen, Changkai Liu, Yansheng Li, Xue Wang, Xiangwen Pan, Feifei Wang, Qiuying Zhang
Summary: This study analyzed the contents of six isoflavone components in different stages of developing soybean seeds using eight recombinant inbred lines. The dynamic variation and modulation network of isoflavones was characterized, and novel major genes affecting isoflavone accumulation were identified. The study expanded the isoflavone biosynthesis pathway and discussed the molecular patterns regulating isoflavone accumulation. These findings contribute to the understanding of isoflavone biosynthesis and regulation, and the breeding of soybean cultivars with high isoflavone contents.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Hans Christoph Liedtke, Ewan Harney, Ivan Gomez-Mestre
Summary: Research has uncovered differences in gene expression between two species of spadefoot toads in response to a shared environmental risk, particularly genes related to lipid, cholesterol, and steroid biosynthesis and metabolism. These differences may have played a crucial role in the genetic accommodation of developmental plasticity in this biological system.
Article
Agriculture, Dairy & Animal Science
Liping Guo, Congcong Wei, Li Yi, Wanli Yang, Zhaoyu Geng, Xingyong Chen
Summary: Subcutaneous fat is crucial for waterfowl, impacting meat quality and feed conversion rate. Using RNA-seq, this study identified differentially expressed genes in subcutaneous adipose tissue of Muscovy duck at three developmental stages. Results showed upregulation of genes related to cholesterol and fatty acid biosynthesis, and downregulation of genes related to fatty acid beta-oxidation as ducks age, suggesting a slower metabolism. Key genes for duck subcutaneous fat in aging ducks were GC, AHSG, FGG, and FGA, with the PPAR signaling pathway potentially playing a key role in subcutaneous fat metabolism across different developmental stages.
Article
Biology
Joanna Baker, Andrew Meade, Chris Venditti
Summary: The authors introduce an approach using rates of evolutionary change to test whether twelve candidate genes have driven testis size evolution across tetrapod vertebrates. Results reveal five genes that have played unique and complex roles in tetrapod testis size diversity, with significant associations between the rate of protein-coding substitutions and testis size evolution. This new approach has the potential to build a picture of how natural selection has sculpted phenotypic change over millions of years.
Article
Cardiac & Cardiovascular Systems
Karen Reue, Carrie B. Wiese
Summary: Sex is a key risk factor for many types of cardiovascular disease. Both biological sex and gender influence differences between men and women in disease susceptibility and pathology. Experimental mouse models have revealed the influence of sex chromosome complement and gonad type on cardiovascular risk factors and disease development.
CIRCULATION RESEARCH
(2022)
Review
Cell Biology
Olivia Krefft, Philipp Koch, Julia Ladewig
Summary: Genetic studies have identified mutations associated with malformations of cortical development in humans, and human brain organoids derived from pluripotent stem cells are used as a model to investigate these mechanisms. This model provides insights into the underlying pathomechanisms of MCD, reflecting the phenotypic features of these diseases.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Li-Li Zhang, Rui-Jie Tang, Yue-Jin Yang
Summary: Cardiovascular diseases have long been a focus of academic research. Pathological cellular loss caused by cell death is believed to accelerate the development of heart diseases and worsen cardiac function. In addition to known cell death mechanisms, ferroptosis has been shown to play a significant role in cardiovascular disorders. This article summarizes the molecular mechanisms involved and identifies potential therapeutic targets for treating cardiovascular diseases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Multidisciplinary Sciences
Miranda R. Sun, Austin C. Steward, Emma A. Sweet, Alexander A. Martin, Robert J. Lipinski
Summary: Tamoxifen, commonly used in cancer treatment, has also been utilized for genetic alteration methods, with prenatal exposure potentially causing structural defects in mouse embryos.
Review
Oncology
Julia Naso, Ying-Chun Lo, Lynette M. M. Sholl
Summary: The pathologic assessment of lung cancers plays a crucial role in guiding treatment strategies for patients with both early and advanced-stage disease. Accurate diagnosis is fundamental, even with limited sample sizes from minimally invasive techniques. Predictive biomarker testing is essential, especially for NSCLC patients considered for immunotherapy or targeted therapy. This review focuses on the best practices for NSCLC diagnosis using morphology and immunohistochemistry, providing surgeons with necessary information to evaluate pathology reports. Clinicians should also be aware of immunohistochemical and genomic biomarkers to drive therapy decisions and ensure timely access to treatments.
JOURNAL OF SURGICAL ONCOLOGY
(2023)
Article
Genetics & Heredity
Xiaojin Li, Yanan Yang, Lei Li, Man Ren, Mei Zhou, Shenghe Li
Summary: This study investigated the expression changes in the longissimus dorsi of Wannanhua pigs at different growth stages using transcriptome sequencing technology. Differentially expressed genes (DEGs) associated with lipid metabolism and muscle development were identified, most of which were significantly up-regulated in LD120 and LD240 compared to LD60.
Article
Neurosciences
Michaela Kaiserova, Katerina Mensikova, Lucie Tuckova, Petr Hlustik, Petr Kanovsky
Summary: Corticobasal syndrome (CBS) presents with progressive asymmetric rigidity and apraxia, often associated with a wide range of neurodegenerative diseases. This case study highlights a 71-year-old woman with CBS showing concomitant pathology corresponding to Lewy-related and Alzheimer's-type pathology, expanding the spectrum of neurodegenerative pathological processes that may manifest with the typical CBS phenotype. Identifying specific biomarkers is crucial for accurate in vivo differential diagnosis and determining the underlying pathological processes of these diseases.
FRONTIERS IN NEUROSCIENCE
(2021)
Review
Immunology
Piotr Rzymski, Bartlomiej Perek, Robert Flisiak
Summary: The rollout of COVID-19 vaccines brings hope for controlling the pandemic, but some vaccines may lead to rare thrombotic events during post-authorization use. The exact causes of these adverse reactions remain unclear, investigations and research are ongoing.
Article
Multidisciplinary Sciences
Katie E. Lotterhos
Summary: Understanding how species adapt to multivariate climate change is crucial. This study used simulations to investigate the conditions under which allele frequency clines evolve in complex environments. The results showed that the evolution of phenotypic clines is influenced by landscape, demography, pleiotropy, and genetic architecture. Genotype-environment associations (GEAs) failed to accurately infer the genetic basis of adaptation in certain scenarios. However, the study demonstrated that a back-transformation of multivariate ordination can accurately predict individual multivariate traits regardless of the accuracy of GEAs. This research highlights the importance of considering both clinal and nonmonotonic patterns in predicting species adaptation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Psychology, Developmental
Giorgia Picci, Lauren R. Ott, Nathan M. Petro, Chloe C. Casagrande, Abraham D. Killanin, Danielle L. Rice, Anna T. Coutant, Yasra Arif, Christine M. Embury, Hannah J. Okelberry, Hallie J. Johnson, Seth D. Springer, Haley R. Pulliam, Yu-Ping Wang, Vince D. Calhoun, Julia M. Stephen, Elizabeth Heinrichs-Graham, Brittany K. Taylor, Tony W. Wilson
Summary: This study used magnetoencephalography to examine the neural dynamics during attention reorienting in youth. It found that as age increased, there were stronger theta and alpha-beta spectral oscillatory activities in the fronto-parietal network, with more limited effects for alpha-beta responses. These findings demonstrate the developmental effects in spectrally-specific neural oscillations for attention allocation.
DEVELOPMENTAL COGNITIVE NEUROSCIENCE
(2023)
Review
Medicine, General & Internal
Dominic Cosgrove, Jacob Madison
Summary: Alport syndrome is caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in glomerular pathology and other tissue abnormalities. Defects in the glomerular basement membrane lead to progressive glomerulosclerosis, requiring dialysis and kidney transplantation.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Kaylee B. Park, Teresa Chapman, Kimberly A. Aldinger, Ghayda M. Mirzaa, Jordan Zeiger, Anita Beck, Ian A. Glass, Robert F. Hevner, Anna C. Jansen, Desiree A. Marshall, Renske Oegema, Elena Parrini, Russell P. Saneto, Cynthia J. Curry, Judith G. Hall, Renzo Guerrini, Richard J. Leventer, William B. Dobyns
Summary: Twins have an increased risk for congenital malformations and disruptions, particularly in brain morphogenesis. The study revealed a higher proportion of monozygotic twin pairs and an unexpected excess of dizygotic twins, suggesting disruption of vascular perfusion as a likely cause for the abnormalities.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Clinical Neurology
S. Subramanian, A. Biswas, C. A. P. F. Alves, S. Sudhakar, K. Shekdar, P. Krishnan, M. Shroff, A. Taranath, F. Arrigoni, K. A. Aldinger, R. J. Leventer, W. B. Dobyns, K. Mankad
Summary: Pathogenic variants in the ACTA2 gene are associated with a distinctive arterial phenotype and gyral abnormalities in the brain. Gyral abnormalities, commonly found in patients with ACTA2 pathogenic variants, are predominantly located around the Sylvian fissure and in the frontal lobe, often co-occurring with the characteristic ACTA2 arterial phenotype.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Review
Neurosciences
Parthiv Haldipur, Kathleen J. Millen, Kimberly A. Aldinger
Summary: Developmental abnormalities of the cerebellum in humans are not well understood, despite extensive research in model organisms. Recent studies suggest significant differences between human cerebellar development and that of mice and nonhuman primates, challenging current models. More research data and new models are needed to improve our understanding.
ANNUAL REVIEW OF NEUROSCIENCE
(2022)
Article
Neurosciences
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
Summary: Six novel KCNQ5 variants were identified in children with motor/language delay, intellectual disability, and/or epilepsy. These variants lead to gain or loss of function, and are associated with neurological disorders.
JOURNAL OF NEUROPHYSIOLOGY
(2022)
Article
Cell Biology
Daniel Williamson, Edward C. Schwalbe, Kimberly A. Aldinger, Debbie Hicks, Janet C. Lindsey, Stephen Crosier, Stacey Richardson, Jack Goddard, Rebecca M. Hill, Jemma Castle, Yura Grabovska, James Hacking, Barry Pizer, Stephen B. Wharton, Thomas S. Jacques, Abhijit Joshi, Simon Bailey, Steven C. Clifford
Summary: This study reveals a transcriptional continuum of medulloblastoma, in which group 3 and group 4 medulloblastomas are intermediate states with specific molecular features. This continuum is closely related to the development of fetal cerebellar cell types.
Article
Clinical Neurology
M. T. Whitehead, M. J. Barkovich, J. Sidpra, C. A. Alves, D. M. Mirsky, O. Oztekin, D. Bhattacharya, L. T. Lucato, S. Sudhakar, A. Taranath, S. Andronikou, S. P. Prabhu, K. A. Aldinger, P. Haldipur, K. J. Millen, A. J. Barkovich, E. Boltshauser, W. B. Dobyns, K. Mankad
Summary: Based on cerebellar development, we established updated imaging criteria for Dandy-Walker malformation and found multiple measures of the posterior fossa and cerebellum that can differentiate Dandy-Walker malformation from other diagnoses.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Article
Genetics & Heredity
Alexander M. Holtz, Rachel VanCoillie, Elizabeth A. Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J. Guillen Sacoto, Yue Si, Ingrid M. Wentzensen, Jada Pugh, Georgia Vasileiou, Melissa Rieger, Andr Prime E. Reis, Emanuela Argilli, Elliott H. Sherr, Kimberly A. Aldinger, William B. Dobyns, Theresa Brunet, Julia Hoefele, Matias Wagner, Benjamin Haber, Urania Kotzaeridou, Boris Keren, Delphine Heron, Cyril Mignot, Solveig Heide, Thomas Courtin, Julien Buratti, Serini Murugasen, Kirsten A. Donald, Emily O'Heir, Shade Moody, Katherine H. Kim, Barbara K. Burton, Grace Yoon, Miguel Del Campo, Diane Masser-Frye, Mariya Kozenko, Christina Parkinson, Susan L. Sell, Patricia L. Gordon, Jeremy W. Prokop, Amel Karaa, Caleb Bupp, Benjamin A. Raby
Summary: This study identified a novel autosomal dominant disorder associated with the MYH10 gene, characterized by a wide range of neurodevelopmental disorders and congenital anomalies. Animal models confirmed the effects of altered MYH10 activity on primary ciliogenesis and Hedgehog signaling. The findings suggest disrupted primary cilia length control and altered Hedgehog signaling as potential mechanisms in the pathogenesis of neurodevelopmental disorders.
GENETICS IN MEDICINE
(2022)
Article
Multidisciplinary Sciences
Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman, Alexandria H. Sjoboen, Anders W. Erickson, Winnie Ong, Victor Gordon, Ludivine Coudiere-Morrison, Audrey L. Mercier, Mohammad Shokouhian, Raul A. Suarez, Michelle Ly, Stephanie Borlase, David S. Scott, Maria C. Vladoiu, Hamza Farooq, Olga Sirbu, Takuma Nakashima, Shohei Nambu, Yusuke Funakoshi, Alec Bahcheli, J. Javier Diaz-Mejia, Joseph Golser, Kathleen Bach, Tram Phuong-Bao, Patryk Skowron, Evan Y. Wang, Sachin A. Kumar, Polina Balin, Abhirami Visvanathan, John J. Y. Lee, Ramy Ayoub, Xin Chen, Xiaodi Chen, Karen L. Mungall, Betty Luu, Pierre Berube, Yu C. Wang, Stefan M. Pfister, Seung-Ki Kim, Olivier Delattre, Franck Bourdeaut, Francois Doz, Julien Masliah-Planchon, Wieslawa A. Grajkowska, James Loukides, Peter Dirks, Michelle Fevre-Montange, Anne Jouvet, Pim J. French, Johan M. Kros, Karel Zitterbart, Swneke D. Bailey, Charles G. Eberhart, Amulya A. N. Rao, Caterina Giannini, James M. Olson, Miklos Garami, Peter Hauser, Joanna J. Phillips, Young S. Ra, Carmen de Torres, Jaume Mora, Kay K. W. Li, Ho-Keung Ng, Wai S. Poon, Ian F. Pollack, Enrique Lopez-Aguilar, G. Yancey Gillespie, Timothy E. Van Meter, Tomoko Shofuda, Rajeev Vibhakar, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Toshihiro Kumabe, Shin Jung, Boleslaw Lach, Achille Lolascon, Veronica Ferrucci, Pasqualino de Antonellis, Massimo Zollo, Giuseppe Cinalli, Shenandoah Robinson, Duncan S. Stearns, Erwin G. Van Meir, Paola Porrati, Gaetano Finocchiaro, Maura Massimino, Carlos G. Carlotti, Claudia C. Faria, Martine F. Roussel, Frederick Boop, Jennifer A. Chan, Kimberly A. Aldinger, Ferechte Razavi, Evelina Silvestri, Roger E. McLendon, Eric M. Thompson, Marc Ansari, Maria L. Garre, Fernando Chico, Pilar Eguia, Mario Perezpena, A. Sorana Morrissy, Florence M. G. Cavalli, Xiaochong Wu, Craig Daniels, Jeremy N. Rich, Steven J. M. Jones, Richard A. Moore, Marco A. Marra, Xi Huang, Juri Reimand, Poul H. Sorensen, Robert J. Wechsler-Reya, William A. Weiss, Trevor J. Pugh, Livia Garzia, Claudia L. Kleinman, Lincoln D. Stein, Nada Jabado, David Malkin, Olivier Ayrault, Jeffrey A. Golden, David W. Ellison, Brad Doble, Vijay Ramaswamy, Tamra E. Werbowetski-Ogilvie, Hiromichi Suzuki, Kathleen J. Millen, Michael D. Taylor
Summary: Medulloblastoma (MB) is a pediatric embryonal neoplasm of the hindbrain with subtypes including Sonic hedgehog MB, WNT MB and G4 MB. Somatic mutations in G4 MB converge on the core binding factor alpha (CBFA) complex, and knocking down OTX2 can relieve differentiation blockage.
Article
Multidisciplinary Sciences
Kyle S. Smith, Laure Bihannic, Brian L. Gudenas, Parthiv Haldipur, Ran Tao, Qingsong Gao, Yiran Li, Kimberly A. Aldinger, Igor Y. Iskusnykh, Victor V. Chizhikov, Matthew Scoggins, Silu Zhang, Angela Edwards, Mei Deng, Ian A. Glass, Lynne M. Overman, Jake Millman, Alexandria H. Sjoboen, Jennifer Hadley, Joseph Golser, Kshitij Mankad, Heather Sheppard, Arzu Onar-Thomas, Amar Gajjar, Giles W. Robinson, Volker Hovestadt, Brent A. Orr, Zoltan Patay, Kathleen J. Millen, Paul A. Northcott
Summary: Medulloblastoma, a malignant childhood cerebellar tumour, has different subgroups with distinct developmental origins. Multi-omics analysis connects the molecular features of medulloblastoma subgroups to their origins during early development.
Correction
Multidisciplinary Sciences
Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman, Alexandria H. Sjoboen, Anders W. Erickson, Winnie Ong, Victor Gordon, Ludivine Coudiere-Morrison, Audrey L. Mercier, Mohammad Shokouhian, Raul A. Suarez, Michelle Ly, Stephanie Borlase, David S. Scott, Maria C. Vladoiu, Hamza Farooq, Olga Sirbu, Takuma Nakashima, Shohei Nambu, Yusuke Funakoshi, Alec Bahcheli, J. Javier Diaz-Mejia, Joseph Golser, Kathleen Bach, Tram Phuong-Bao, Patryk Skowron, Evan Y. Wang, Sachin A. Kumar, Polina Balin, Abhirami Visvanathan, John J. Y. Lee, Ramy Ayoub, Xin Chen, Xiaodi Chen, Karen L. Mungall, Betty Luu, Pierre Berube, Yu C. Wang, Stefan M. Pfister, Seung-Ki Kim, Olivier Delattre, Franck Bourdeaut, Francois Doz, Julien Masliah-Planchon, Wieslawa A. Grajkowska, James Loukides, Peter Dirks, Michelle Fevre-Montange, Anne Jouvet, Pim J. French, Johan M. Kros, Karel Zitterbart, Swneke D. Bailey, Charles G. Eberhart, Amulya A. N. Rao, Caterina Giannini, James M. Olson, Miklos Garami, Peter Hauser, Joanna J. Phillips, Young S. Ra, Carmen de Torres, Jaume Mora, Kay K. W. Li, Ho-Keung Ng, Wai S. Poon, Ian F. Pollack, Enrique Lopez-Aguilar, G. Yancey Gillespie, Timothy E. Van Meter, Tomoko Shofuda, Rajeev Vibhakar, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Toshihiro Kumabe, Shin Jung, Boleslaw Lach, Achille Iolascon, Veronica Ferrucci, Pasqualino de Antonellis, Massimo Zollo, Giuseppe Cinalli, Shenandoah Robinson, Duncan S. Stearns, Erwin G. Van Meir, Paola Porrati, Gaetano Finocchiaro, Maura Massimino, Carlos G. Carlotti, Claudia C. Faria, Martine F. Roussel, Frederick Boop, Jennifer A. Chan, Kimberly A. Aldinger, Ferechte Razavi, Evelina Silvestri, Roger E. McLendon, Eric M. Thompson, Marc Ansari, Maria L. Garre, Fernando Chico, Pilar Eguia, Mario Perezpena, A. Sorana Morrissy, Florence M. G. Cavalli, Xiaochong Wu, Craig Daniels, Jeremy N. Rich, Steven J. M. Jones, Richard A. Moore, Marco A. Marra, Xi Huang, Juri Reimand, Poul H. Sorensen, Robert J. Wechsler-Reya, William A. Weiss, Trevor J. Pugh, Livia Garzia, Claudia L. Kleinman, Lincoln D. Stein, Nada Jabado, David Malkin, Olivier Ayrault, Jeffrey A. Golden, David W. Ellison, Brad Doble, Vijay Ramaswamy, Tamra E. Werbowetski-Ogilvie, Hiromichi Suzuki, Kathleen J. Millen, Michael D. Taylor
Meeting Abstract
Biochemistry & Molecular Biology
Jordy Dekker, Rachel Schot, Kimberly A. Aldinger, David B. Everman, Jennifer A. Sullivan, Vandana Shashi, Maha S. Zaki, Joseph G. Gleeson, Antonio Vitobello, Anne-Sophie Denomme-Pichon, Anne-Laure Mosca-Boidron, Sophie Nambot, Laurence Perrin, Stephane Auvin, Sarah E. McKeown, Mark P. Fitzgerald, Ingo Helbig, Felice D'Arco, Richard J. Leventer, Dan Doherty, William B. Dobyns, Grazia M. S. Mancini, Kevin C. Slep
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
