Article
Multidisciplinary Sciences
Daniel Z. Doyle, Mandy M. Lam, Adel Qalieh, Yaman Qalieh, Alice Sorel, Owen H. Funk, Kenneth Y. Kwan
Summary: Loss-of-function mutations in chromatin remodeler gene ARID1A are a cause of Coffin-Siris syndrome, and Arid1a plays a critical role in subplate neurons during cortical development, essential for neural circuit wiring.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Neurosciences
Jacqueline M. Ehrman, Paloma Merchan-Sala, Lisa A. Ehrman, Bin Chen, Hee-Woong Lim, Ronald R. Waclaw, Kenneth Campbell
Summary: The projection neurons of the striatum can be categorized into the striatopallidal (indirect) pathway or the striatonigral (direct) pathway. Striatonigral axons pioneer the internal capsule and cerebral peduncle and provide guidance for corticofugal and thalamocortical axons. Defects in the striatonigral pathway can disrupt internal capsule formation.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Biology
Fernando Martin-Fernandez, Ana Bermejo-Santos, Lorena Bragg-Gonzalo, Carlos G. Briz, Esther Serrano-Saiz, Marta Nieto
Summary: This study reveals that the expression of axonal signaling receptor Neuropilin 1 (Nrp1) in the somatosensory (SS) cortex of mice is temporary and follows patterns that determine corpus callosum (CC) connectivity. Nrp1 expression is important for subsequent S2 innervation and knocking down Nrp1 reduces the number of callosal neurons in S2L2/3, which may play a role in neurodevelopmental disorders.
Editorial Material
Clinical Neurology
Thiviya Selvanathan, Mireille Guillot, Helen M. Branson, Vann Chau, Edmond N. Kelly, Steven P. Miller
Summary: Malformations of cortical development (MCD) are a rare group of disorders caused by genetic, metabolic, infectious, or vascular factors that disrupt the development of the cerebral cortex. They are typically detected with brain MRI when symptomatic, but recent advances allow for detection during fetal or neonatal periods. This study presents neuroimaging findings and neurodevelopmental outcomes of a very preterm infant with incidentally detected MCD on neonatal research brain MRI.
Article
Multidisciplinary Sciences
Christina M. Cerkevich, Jean-Alban Rathelot, Peter L. Strick
Summary: This study examines the cortical control of a laryngeal muscle, essential for vocalization in marmosets and macaques. The researchers find that the expansion of descending output from the premotor areas, particularly ventral area 6 and supplementary motor area, contributes to the enhanced vocal motor abilities in marmosets.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Yandong Zhang, Zheping Cai, Guanglei Hu, Songhui Hu, Yafei Wang, Na Li, Saiyong Chen, Qiong Liu, Lanhui Zeng, Tianxiang Tang, Yilan Zhang, Lei Xiao, Yu Gu, Yunli Xie
Summary: Tcf4 regulates neuronal positioning, with its deficiency leading to clustering of neurons. By controlling the expression of cell adhesion molecules, Tcf4 plays a role in neuronal positioning. Mutations in TCF4 result in disrupted neuronal functions, and are associated with schizophrenia and Pitt-Hopkins syndrome.
MOLECULAR PSYCHIATRY
(2021)
Article
Biology
Sabrina A. Jones, Jacob H. Barfield, V. Kindler Norman, Woodrow L. Shew
Summary: Naturally occurring body movements and collective neural activity exhibit scale-free dynamics, with fractal spatiotemporal structure. Scale-free brain activity and scale-free behavior have been studied separately, without a unified explanation. We show that mouse behavior and neurons in the visual cortex exhibit strongly related scale-free dynamics, with stochastic competition among neural subsets. Our computational model incorporating cell-type-specific circuit structure provides a new explanation for these findings, establishing the neural underpinnings of scale-free behavior and the relevance of scale-free neural activity to behavior.
Article
Biochemistry & Molecular Biology
Yumi Tsuneura, Masahito Sawahata, Norimichi Itoh, Ryoya Miyajima, Daisuke Mori, Takao Kohno, Mitsuharu Hattori, Akira Sobue, Taku Nagai, Hiroyuki Mizoguchi, Toshitaka Nabeshima, Norio Ozaki, Kiyofumi Yamada
Summary: Reelin, a crucial extracellular matrix protein secreted by Cajal-Retzius cells, plays important roles in brain development and neuronal functions. Reductions in Reelin are associated with brain dysfunctions in mental disorders like schizophrenia. A recent study identified a novel deletion in RELN encoding Reelin in Japanese schizophrenia patients, leading to abnormalities in brain structures and social behavior.
NEUROCHEMISTRY INTERNATIONAL
(2021)
Article
Multidisciplinary Sciences
Dennis van der Meer, Tobias Kaufmann, Alexey A. Shadrin, Carolina Makowski, Oleksandr Frei, Daniel Roelfs, Jennifer Monereo-Sanchez, David E. J. Linden, Jaroslav Rokicki, Dag Alnaes, Christiaan de Leeuw, Wesley K. Thompson, Robert Loughnan, Chun Chieh Fan, Lars T. Westlye, Ole A. Andreassen, Anders M. Dale
Summary: The folding of the human cerebral cortex is a highly genetically regulated process that allows for a larger surface area and optimized functional organization. Sulcal depth, a measure of localized folding, has been associated with neurodevelopmental disorders. This study, the first genome-wide association study of sulcal depth, identified multiple significant loci and highlighted genetic overlap with cortical thickness and surface area, suggesting potential insights into cortical morphology.
Article
Multidisciplinary Sciences
Ryota Kai, Kuniyuki Takahashi, Kazuki Tainaka, Yuriko Iwakura, Hisaaki Namba, Nae Saito, Toshikuni Sasaoka, Shun Yamaguchi, Hiroyuki Nawa, Arata Horii
Summary: This study investigated the cerebrocortical mechanisms underlying sensory reweighting after unilateral labyrinthectomy in mice. The results showed that the somatosensory system can compensate for vestibular dysfunction, and the medial prefrontal cortex and agranular insular cortex contribute to the integration of sensory and motor functions to restore balance.
SCIENTIFIC REPORTS
(2022)
Article
Biochemical Research Methods
Jessica L. Sevetson, Brian Theyel, Diane Hoffman-Kim
Summary: This study demonstrates network activity in three-dimensional brain cultures, showing that the networks become more complex over time and can be manipulated with various drugs. The correlations and distances between neurons within the network can be quantified with micron-scale resolution to study emergent network events.
Article
Cell Biology
Ryan M. Glanz, Greta Sokoloff, Mark S. Blumberg
Summary: This research investigates the changes in the primary motor cortex during development in rats. Using neural decoding, it was found that the complexity and uniqueness of the movement information in M1 increases as the activity becomes continuous. Additionally, the representation in M1 at this stage is more susceptible to damage.
Article
Biochemistry & Molecular Biology
Juan F. Cervilla-Martinez, Juan J. Rodriguez-Gotor, Krzysztof J. Wypijewski, Angela Fontan-Lozano, Tao Wang, Enrique Santamaria, William Fuller, Rebeca Mejias
Summary: Through data-mining of palmitome in the cerebral cortex of PD patients and controls, the study identified 150 proteins with altered palmitoylation, which are predicted to impact cytoskeleton, mitochondrial and fibrinogen functions, as well as cell survival. The research suggests that protein palmitoylation may play a role in the pathophysiology of PD, and comprehensive palmitoyl-proteomics is a powerful approach for exploring novel cellular pathways involved in this neurodegenerative disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Henri Lassagne, Dorian Goueytes, Daniel E. Shulz, Luc Estebanez, Valerie Ego-Stengel
Summary: The topographic organization in sensory cortices plays a crucial role in sensory-guided behavior, as the continuity of the topography enables anticipation of future sensory activation. Disruption of the topographic continuity leads to behavioral failure.
Article
Multidisciplinary Sciences
Andrija Stajduhar, Tomislav Lipic, Sven Loncaric, Milos Judas, Goran Sedmak
Summary: This study presents a quantitative histology data science methodology that focuses on neuron-level representations of cortical regions, rather than image-level investigations. The methodology involves automatic segmentation of neurons and the use of engineered features to map phenotype to cortical layers. The approach offers high interpretability and can help deepen our understanding of human cortex organization.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W. Stottmann, Howard M. Saal, K. Nicole Weaver
Summary: This study surveyed parents of individuals with Mandibulofacial dysostosis with microcephaly (MFDM) to expand knowledge about the condition. The study identified common features, new information, and family concerns associated with MFDM. Additionally, targeted Sanger sequencing revealed de novo variants in a majority of cases, highlighting the importance of understanding the genetic basis of MFDM.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Correction
Cell Biology
Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann
DISEASE MODELS & MECHANISMS
(2021)
Article
Cell Biology
Christelle Cadilhac, Isabelle Bachy, Antoine Forget, David J. Hodson, Celine Jahannault-Talignani, Andrew J. Furley, Olivier Ayrault, Patrice Mollard, Constantino Sotelo, Fabrice Ango
Summary: In the cerebellar molecular layer, GABAergic interneurons derived from the same progenitor pool utilize separate migration paths to reach their laminar position and differentiate into distinct GABAergic interneuron subtypes. Using two-photon live imaging, it was found that the final laminar position of stellate cells requires an additional step of tangential migration supported by a subpopulation of glutamatergic granule cells.
Article
Genetics & Heredity
Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurelie Clement, Bernardo Blanco-Sanchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shinawi, Ghayda Mirzaa, Catherine DeVile, Rowenna Roberts, Alistair D. Calder, Jeremy Allgrove, Ingo Grafe, Denise G. Lanza, Xiaohui Li, Kyu Sang Joeng, Yi-Chien Lee, I-Wen Song, Joseph M. Sliepka, Dominyka Batkovskyte, Megan Washington, Brian C. Dawson, Zixue Jin, Ming-Ming Jiang, Shan Chen, Yuqing Chen, Alyssa A. Tran, Lisa T. Emrick, David R. Murdock, Neil A. Hanchard, Gladys E. Zapata, Nitesh R. Mehta, Mary Ann Weis, Abbey A. Scott, Brenna A. Tremp, Jennifer B. Phillips, Jeremy Wegner, Tashunka Taylor-Miller, Richard A. Gibbs, Donna M. Muzny, Shalini N. Jhangiani, John Hicks, Rolf W. Stottmann, Mary E. Dickinson, John R. Seavitt, Jason D. Heaney, David R. Eyre, Monte Westerfield, Maria Antonietta De Matteis, Brendan Lee
Summary: Loss-of-function variants in COPB2, a component of the COPI complex, can lead to osteoporosis, fractures, and developmental delay by affecting intracellular trafficking. Studies show its important role in collagen secretion and cellular organelle structure.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Katherine A. Inskeep, Yuri A. Zarate, Danielle Monteil, Jurgen Spranger, Dan Doherty, Rolf W. Stottmann, K. Nicole Weaver
Summary: Primary ciliopathies are disorders caused by disturbances in primary cilia form and/or function, with Joubert syndrome being a distinct example. This study demonstrates that biallelic pathogenic variants in the KIAA0753 gene result in abnormal primary ciliogenesis and SHH pathway activity, impacting cellular signaling pathways such as SHH and WNT.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
K. Nicole Weaver, Bonnie R. Sullivan, Stephanie A. Balow, Sara Hopkin, Barbara A. Chini, Brian S. Pan, Rolf W. Stottmann, Patricia L. Bender, Robert J. Hopkin, Xue Zhang, Howard M. Saal
Summary: Our study found that Robin sequence patients without cleft palate are more likely to have additional medical or developmental problems, while those with cleft palate are less likely. Among Robin sequence patients, the presence or absence of cleft palate did not have a significant impact on the severity of airway obstruction, surgical intervention rate, or feeding outcomes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Samantha A. Brugmann, Amy E. Merrill, Jean-Pierre Saint-Jeannet, Rolf W. Stottmann, David E. Clouthier
Summary: The 44th Annual Meeting of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) was held virtually in 2021, attracting scientists from different research institutions worldwide, including cell biologists, developmental biologists, and clinical geneticists. The meeting featured awards, scientific sessions, workshops, and poster sessions in the field of craniofacial research, providing a platform for academic exchange and collaboration.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Meeting Abstract
Genetics & Heredity
Brandon Stone, Rolf Stottmann, Mai-Lan Ho, Bimal Chaudhari
GENETICS IN MEDICINE
(2022)
Article
Neurosciences
Alex Moore, Kavitha Chinnaiya, Dong Won Kim, Sarah Brown, Iain Stewart, Sarah Robins, Georgina K. C. Dowsett, Charlotte Muir, Marco Travaglio, Jo E. Lewis, Fran Ebling, Seth Blackshaw, Andrew Furley, Marysia Placzek
Summary: This study reveals that the cell adhesion molecule NrCAM regulates tanycytes in adult mice, affecting the expression of tanycyte-specific genes. Loss of NrCAM leads to a reduced number of tanycytes and decreased expression of tanycyte markers, but only has a subtle effect on the metabolic phenotype.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Genetics & Heredity
Rolf W. Stottmann, Matthew P. Harris, Jean-Pierre Saint-Jeannet, Amy E. Merrill, David E. Clouthier
Summary: The 45th Annual Meeting of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) was held at the Sanford Consortium for Regenerative Medicine, University of California, San Diego on October 20th-21st, 2022. The meeting featured the presentation of SCGDB Distinguished Scientists in Craniofacial Research Awards, four scientific sessions focusing on new discoveries in craniofacial development, and workshops on single cell RNA sequencing analysis and human sequencing data utilization. With 110 attendees from diverse backgrounds in developmental biology and genetics, the meeting fostered interactions and discussions among participants, strengthening the SCGDB community.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Developmental Biology
Ryan P. Liegel, Megan N. Michalski, Sanika Vaidya, Elizabeth Bittermann, Erin Finnerty, Chelsea A. Menke, Cassandra R. Diegel, Zhendong A. Zhong, Bart O. Williams, Rolf W. Stottmann
Summary: Researchers created a mouse model using gene editing technology to study the pathogenicity of FZD2 variants and found potential therapeutic interventions for Robinow syndrome.
Correction
Biochemistry & Molecular Biology
Andrew DiStasio, Ashley Driver, Kristen Sund, Milene Donlin, Ranjithmenon Muraleedharan, Shabnam Pooya, Beth Kline-Fath, Kenneth M. Kaufman, Cynthia A. Prows, Elizabeth Schorry, Biplab Dasgupta, Rolf W. Stottmann
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Summary: This study reports a recurrent variant in the ARPC4 gene that is associated with neurodevelopmental disorders and microcephaly. Affected individuals exhibit core features such as microcephaly, mild motor delays, and significant speech impairment. Experimental evidence shows a decrease in F-actin levels in cells from affected individuals.
HUMAN GENETICS AND GENOMICS ADVANCES
(2022)
Article
Developmental Biology
Lauren E. Blizzard, Chelsea Menke, Shaili D. Patel, Ronald R. Waclaw, Salil A. Lachke, Rolf W. Stottmann
Summary: Forward genetics in the mouse is a valuable tool for discovering new genes and alleles with unknown roles in mammalian development and disease. A new mouse allele of Cse1l was identified through ENU mutagenesis screen, and its causal role in craniofacial and ocular malformations was confirmed by complementation with a novel null allele. Cse1l is significantly expressed in the developing eye and may play a crucial role in organogenesis.
JOURNAL OF DEVELOPMENTAL BIOLOGY
(2021)
Meeting Abstract
Genetics & Heredity
Z. Abdelhamed, D. Paulding, L. A. Runck, S. Salomone, R. W. Stottmann
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)