Article
Biology
Sara Ciof, Gemma Flore, Stefania Martucciello, Marchesa Bilio, Maria Giuseppina Turturo, Elizabeth Illingworth
Summary: The loss of a single copy of TBX1 accounts for most of the clinical signs and symptoms of 22q11.2 deletion syndrome. The main function of TBX1 in the mouse brain is to suppress vessel branching morphogenesis through regulation of Vegfr3. Inactivating Vegfr3 enhances brain vessel branching and filopodia formation, while increasing Vegfr3 expression fully rescues these phenotypes.
LIFE SCIENCE ALLIANCE
(2022)
Article
Developmental Biology
Marina Kaiser, Irina Wojahn, Carsten Rudat, Timo H. Ludtke, Vincent M. Christoffels, Anne Moon, Andreas Kispert, Mark-Oliver Trowe
Summary: TBX2 and TBX3 are identified as novel regulators of inner ear development in mice. Loss of function of these genes results in cochlear hypoplasia and vestibular malformations, ultimately leading to indiscernible inner ear structures at birth. The repression of FGF signaling by TBX2 is crucial for neurogenesis localization in the otocyst.
Article
Hematology
Frederic Adam, Alexandre Kauskot, Lamia Lamrani, Jean Solarz, Christelle Soukaseum, Christelle Reperant, Cecile Denis, Hana Raslova, Jean-Philippe Rosa, Marijke Bryckaert
Summary: This study investigates the thrombotic potential of a male patient with a FLNa mutation in an in vivo model. They establish a mutant FlnA knock-in mouse model which phenocopies the patient's platelets showing increased platelet functions in vitro. However, in vivo, the mutant FlnA mice exhibit thrombus instability evidenced by increased re-bleeding and arteriolar embolies.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Neurosciences
Ilaria Favicchia, Gemma Flore, Sara Cioffi, Gabriella Lania, Antonio Baldini, Elizabeth Illingworth
Summary: This research identified two FDA-approved drugs, Tranylcypromine and Vitamin B12, which successfully rescued cortical abnormalities in Tbx1 mutant mice. The rescue was achieved through mechanisms independent of Tbx1 function, suggesting potential importance for targeting specific genes within the deleted 22q11.2 region for effective treatments.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Ryohei Shimizu, Keiichi Ishihara, Eri Kawashita, Haruhiko Sago, Kazuhiro Yamakawa, Ken-ichi Mizutani, Satoshi Akiba
Summary: Down syndrome is the most common genetic cause of delayed fetal brain development and postnatal intellectual disability. Studies have shown that decreased expression of Tbx1 mRNA in DS mouse models may be related to these abnormal phenotypes.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Cell Biology
Gabriella Lania, Monica Franzese, Noritaka Adachi, Marchesa Bilio, Gemma Flore, Annalaura Russo, Erika D'Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini
Summary: TBX1 is a crucial regulator in the development of the pharyngeal apparatus. Treatment with vitamin B12 has been shown to improve cardiovascular and muscular abnormalities in Tbx1 mutants. The study also reveals that TBX1 regulates cell distribution and lineage arrangement in the pharyngeal apparatus.
DISEASE MODELS & MECHANISMS
(2022)
Article
Engineering, Electrical & Electronic
Muhammad Irshad Khan, Shaobin Liu, Muhammad Kabir Khan, Saeed Ur Rahman
Summary: This research article presents an eight-port mm-wave multiple inputs multiple outputs (MIMO) antenna with hybrid techniques for anti-collision radar sensing application. The design, printed on Roger RT/5880 with a height of 0.8 mm, utilizes meander line parasitic and defective ground structure (DGS) for suppression of electromagnetic coupling. The proposed design achieves an impedance bandwidth of 4.3 GHz, reflection coefficient less than -10 dB in the range of 23.3 GHz to 27.6 GHz, and mutual coupling less than -26 dB. Other performance parameters, such as peak gain, envelope correlation coefficient, multiplexing efficiency, and diversity gain, are also evaluated for experimental validation.
AEU-INTERNATIONAL JOURNAL OF ELECTRONICS AND COMMUNICATIONS
(2023)
Article
Computer Science, Interdisciplinary Applications
Bulent Urul
Summary: The effect of metamaterials, whose positions are determined with particle swarm optimization (PSO) algorithm, on the performance of the defected ground structure antenna has been investigated. The results show that the use of metamaterials can significantly increase the antenna gain.
INTERNATIONAL JOURNAL OF RF AND MICROWAVE COMPUTER-AIDED ENGINEERING
(2022)
Article
Biochemistry & Molecular Biology
Elizabeth M. Paronett, Corey A. Bryan, Megan E. Maynard, Julia A. Goroff, Daniel W. Meechan, Anthony-Samuel LaMantia, Thomas M. Maynard
Summary: Facial dysmorphology is a hallmark of 22q11.2 deletion syndrome. The gene Ranbp1, which mediates nucleocytoplasmic protein trafficking, is a key player in craniofacial development. Mutations in Ranbp1 lead to facial phenotypes, particularly in the midline facial skeleton.
HUMAN MOLECULAR GENETICS
(2023)
Article
Multidisciplinary Sciences
Benjamin Bertin, Yoan Renaud, Teresa Jagla, Guillaume Lavergne, Cristiana Dondi, Jean-Philippe Da Ponte, Guillaume Junion, Krzysztof Jagla
Summary: The study identified Gelsolin and dCryAB as important factors in the development of Drosophila LT muscles, affecting muscle size and preventing muscle splitting. These findings offer initial insights into the still unknown mechanisms of pathological muscle splitting commonly detected in human dystrophic muscles.
SCIENTIFIC REPORTS
(2021)
Article
Optics
Junjie Wang, Zhixu Jia, Chuanze Zhang, Yan Sun, Yasutake Ohishi, Weiping Qin, Guanshi Qin
Summary: We demonstrated broadband amplification in Tm3+-doped fluorotellurite glass fibers using a 1400/1570 nm dual-wavelength pump technique. The TDFTFs showed positive net gain in the S-band from <1440 nm to 1546 nm, making them promising gain media for constructing efficient broadband S-band fiber amplifiers.
Article
Chemistry, Physical
Michele Failla, Fransisco Garcia Florez, Bastiaan B. V. Salzmann, Daniel Vanmaekelbergh, Henk T. C. Stoof, Laurens D. A. Siebbeles
Summary: We studied the initial nature and relaxation of photoexcited electronic states in CdSe nanoplatelets (NPLs) using ultrafast transient optical absorption measurements and theoretical analysis. The quantum yields of heavy-hole (HH) excitons, light-hole (LH) excitons, and charge carriers vary strongly with photon energy, while thermal relaxation occurs within 1 ps. We observed no signs of biexcitons or larger complexes, except when a probe-generated exciton interacted with a previously produced exciton.
JOURNAL OF PHYSICAL CHEMISTRY C
(2023)
Article
Chemistry, Physical
Michele Failla, Fransisco Garcia Florez, Bastiaan B. V. Salzmann, Daniel Vanmaekelbergh, Henk T. C. Stoof, Laurens D. A. Siebbeles
Summary: In this study, the initial nature and relaxation of photoexcited electronic states in CdSe nanoplatelets were investigated using ultrafast transient optical absorption measurements and theoretical analysis. It was found that the initial quantum yields of excitons and charge carriers vary with photon energy, and thermal relaxation occurs within 1 ps. No signatures of biexcitons or larger complexes were observed up to the highest average number of absorbed photons per NPL in the experiments.
JOURNAL OF PHYSICAL CHEMISTRY C
(2023)
Article
Multidisciplinary Sciences
Rizaldy C. Zapata, Dinghong Zhang, Besma Chaudry, Olivia Osborn
Summary: Preclinical studies in mice often use invasive protocols to deliver drugs, which can impact metabolic parameters. An alternative approach is to mix drugs with highly palatable food, allowing mice to self-administer them and reduce stress. This method enables reliable and rapid drug intake compared to traditional injection or gavage methods.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2021)
Article
Cell Biology
Eunyoung Kim, Bilal A. Bari, Jeremiah Y. Cohen
Summary: The study investigates the mechanisms behind persistent activity changes in the prefrontal cortex of mice during behaviors that involve reward predictions. The researchers found that reward-predictive persistent firing increases in specific layers and cell types, conveying information about internal state through synaptic mechanisms.
Article
Multidisciplinary Sciences
Anshuman Sewda, A. J. Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E. Morrow, Fadi Musfee, Deanne Taylor, Laura E. Mitchell
Article
Biochemistry & Molecular Biology
Lu Wei, Wenfeng Wang, Junjie Yang, Xu Huang, Antonio Baldini, Zhen Zhang
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2020)
Article
Hematology
Ramy Elsaid, Sylvain Meunier, Odile Burlen-Defranoux, Francisca Soares-da-Silva, Thibaut Perchet, Lorea Iturri, Laina Freyer, Paulo Vieira, Pablo Pereira, Rachel Golub, Antonio Bandeira, Elisa Gomez Perdiguero, Ana Cumano
Summary: During embryonic development, multiple waves of hematopoietic progenitors are regulated differently, with the first wave of thymic progenitors comprising a unique population of bipotent T and innate lymphoid cells that play a crucial role in thymic organogenesis and the establishment of the immune system.
Article
Biochemistry & Molecular Biology
Stefania Martucciello, Maria Giuseppina Turturo, Marchesa Bilio, Sara Cioffi, Li Chen, Antonio Baldini, Elizabeth Illingworth
Article
Cell Biology
Cinzia Caprio, Gabriella Lania, Marchesa Bilio, Rosa Ferrentino, Li Chen, Antonio Baldini
Summary: Ezh2 plays a crucial role in regulating Tbx1 gene expression and pharyngeal development in mouse embryos, particularly in the morphogenesis of the third pharyngeal pouch. Deletion of Ezh2 in the Tbx1 expression domain affects the development of parathyroids and thymus, providing insights into the role of Ezh2 mutations in hyperparathyroidism and parathyroid cancer.
DISEASE MODELS & MECHANISMS
(2021)
Article
Immunology
Francisca Soares-da-Silva, Laina Freyer, Ramy Elsaid, Odile Burlen-Defranoux, Lorea Iturri, Odile Sismeiro, Perpetua Pinto-do-O, Elisa Gomez-Perdiguero, Ana Cumano
Summary: Research indicates that erythrocyte progenitors derived from the yolk sac outcompete the progeny of hematopoietic stem cells in producing red blood cells during embryonic development, especially in low erythropoietin environments.
JOURNAL OF EXPERIMENTAL MEDICINE
(2021)
Article
Genetics & Heredity
Rohit Prakash, Laina Freyer, Nestor Saiz, Svetlana Gavrilov, Raymond Q. Wang, Peter J. Romanienko, Elizabeth Lacy, Anna-Katerina Hadjantonakis, Maria Jasin
Summary: Knockout mice lacking XRCC3 exhibit midgestational lethality with small size and failure to turn to a fetal position as the most obvious abnormalities. XRCC3 plays an important role in promoting genome integrity. Both RAD51 paralog complexes are required for mouse development.
Article
Immunology
Lorea Iturri, Laina Freyer, Anne Biton, Pascal Dardenne, Yvan Lallemand, Elisa Gomez Perdiguero
Summary: The extra-embryonic yolk sac contains multipotent hematopoietic cells that give rise to various blood cell types, including erythrocytes, monocytes, granulocytes, mast cells, and macrophages. There are two distinct megakaryocyte differentiation pathways, one Myb-independent and occurring in the yolk sac, and another Myb-dependent and taking place in the fetal liver. Understanding megakaryocyte development is important for vascular development and the separation of blood and lymphatic networks.
Article
Neurosciences
Ilaria Favicchia, Gemma Flore, Sara Cioffi, Gabriella Lania, Antonio Baldini, Elizabeth Illingworth
Summary: This research identified two FDA-approved drugs, Tranylcypromine and Vitamin B12, which successfully rescued cortical abnormalities in Tbx1 mutant mice. The rescue was achieved through mechanisms independent of Tbx1 function, suggesting potential importance for targeting specific genes within the deleted 22q11.2 region for effective treatments.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Lijie Shi, Silvia E. Racedo, Alexander Diacou, Taeju Park, Bin Zhou, Bernice E. Morrow
Summary: CRK and CRKL genes play crucial roles in NCCs, and their loss can lead to cardiac malformation and abnormal aortic arch development. These defects may be attributed to altered NCCs localization and function, as well as reduced differentiation of vascular smooth muscle cells.
HUMAN MOLECULAR GENETICS
(2022)
Article
Developmental Biology
Laina Freyer, Yvan Lallemand, Pascal Dardenne, Alina Sommer, Anne Biton, Elisa Gomez Perdiguero
Summary: In this study, the researchers used flow cytometry and genetic labeling techniques to analyze the characteristics of placenta macrophages in mice. They identified fetal-derived HBCs and placenta-associated maternal macrophages and traced the ontogeny of HBCs. The findings suggest that HBCs originate from yolk sac-derived erythro-myeloid progenitors and may play an important role in fetoplacental vascular development and/or remodeling. The researchers also discovered that HBCs are dependent on the transcription factor Pu.1 and its loss-of-function affects the morphology of the placenta labyrinth.
Article
Cell Biology
Gabriella Lania, Monica Franzese, Noritaka Adachi, Marchesa Bilio, Gemma Flore, Annalaura Russo, Erika D'Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini
Summary: TBX1 is a crucial regulator in the development of the pharyngeal apparatus. Treatment with vitamin B12 has been shown to improve cardiovascular and muscular abnormalities in Tbx1 mutants. The study also reveals that TBX1 regulates cell distribution and lineage arrangement in the pharyngeal apparatus.
DISEASE MODELS & MECHANISMS
(2022)
Article
Developmental Biology
Hansoo Song, Bernice E. Morrow
Summary: Through single cell RNA-sequencing analysis of Tbx2/3-deficient embryos, we found that Tbx2/3 plays a promoting role in the transition of otic vesicle cells to different states. Loss of Tbx2/3 leads to failed differentiation of otic vesicle cells into inner ear organs, as well as disrupted neural cell development.
DEVELOPMENTAL BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Christopher De Bono, Yang Liu, Alexander Ferrena, Aneesa Valentine, Deyou Zheng, Bernice E. Morrow
Summary: Disruption of cardiac neural crest cells (CNCCs) leads to congenital heart disease. The cell fate dynamics of CNCCs differentiating into vascular smooth muscle cells are not well understood. This study used single-cell RNA-sequencing to analyze the differentiation process of CNCCs in control mouse embryos and in embryos with inactivated Tbx1. The results reveal the dynamic transitions of CNCCs and the role of Tbx1 in this process, as well as the consequences of Tbx2 and Tbx3 inactivation on aortic arch branching and smooth muscle differentiation.
NATURE COMMUNICATIONS
(2023)
Article
Cardiac & Cardiovascular Systems
Bingruo Wu, Brian Wu, Sonia Benkaci, Lijie Shi, Pengfei Lu, Taeju Park, Bernice E. Morrow, Yidong Wang, Bin Zhou
Summary: This study explores the specific role of Crk and Crkl in the endocardial lineage during heart valve development. The researchers found that the deletion of Crk and Crkl impeded the remodeling of endocardial cushions, resulting in morphogenic defects in atrioventricular valve development. The loss of Crk and Crkl also affected extracellular matrix production, signaling pathways, and signaling activities associated with atrioventricular endocardial cushion remodeling.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)