Article
Multidisciplinary Sciences
Naveen C. Reddy, Shahriyar P. Majidi, Lingchun Kong, Mati Nemera, Cole J. Ferguson, Michael Moore, Tassia M. Goncalves, Hai-Kun Liu, James A. J. Fitzpatrick, Guoyan Zhao, Tomoko Yamada, Azad Bonni, Harrison W. Gabel
Summary: This study reveals that CHD7 promotes chromatin accessibility and enhancer activity in granule cell precursors, regulating morphogenesis of the cerebellar cortex, where its depletion triggers cerebellar polymicrogyria.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A. Lopez, Kyungreem Han, Keiji Honda, Carmen C. Brewer, John A. Butman, Robert J. Morell, Donna M. Martin, Andrew J. Griffith
Summary: Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is a common inner ear malformation in patients with hearing loss, and is associated with pathogenic variants in SLC26A4. However, in European-Caucasian populations, around 50% of EVA patients have no pathogenic alleles of SLC26A4. This study found that CHD7 variants can cause EVA and nonsyndromic hearing loss, and suggest that CHD7 should be included in DNA sequence analyses for EVA patients.
Article
Multidisciplinary Sciences
Jing Nie, Yoshitomo Ueda, Alexander J. Solivais, Eri Hashino
Summary: Mutations in CHD7 gene cause abnormal inner ear development by dysregulating otic genes, and the co-differentiation of cells can partially rescue the mutant phenotypes.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Takako Yamamoto, Mao Arita, Hirotaka Kuroda, Takashi Suzuki, Shin Kawamata
Summary: Embryoid cells and induced pluripotent stem cells can have their differentiation potential improved by modifying the culture medium and conditions.
SCIENTIFIC REPORTS
(2022)
Letter
Medicine, General & Internal
Stephanie Cham, Mary Beth Landrum, Nancy L. Keating, Joanne Armstrong, Alexi A. Wright
Summary: This study evaluates changes in the rate of BRCA testing among ovarian cancer patients and analyzes associated factors.
Article
Biology
Xiaochen Fan, V. Pragathi Masamsetti, Jane Q. J. Sun, Kasper Engholm-Keller, Pierre Osteil, Joshua Studdert, Mark E. Graham, Nicolas Fossat, Patrick P. L. Tam
Summary: The study identified the TWIST1-CRM module as crucial for NCC development, with its activity level influencing cell differentiation and migration potential. Loss of the module function results in abnormal cell fate choices.
Article
Anatomy & Morphology
Sergej Nowoshilow, Ji-Feng Fei, S. Randal Voss, Elly M. Tanaka, Prayag Murawala
Summary: The laboratory axolotl (Ambystoma mexicanum) is widely used in biological research, particularly in tissue regeneration. Establishing gene and transgenic nomenclature has become a critical need to ensure uniformity in research, and guidelines for genetic nomenclature in working with axolotl have been proposed.
DEVELOPMENTAL DYNAMICS
(2022)
Article
Biochemical Research Methods
Marija Buljan, Amir Banaei-Esfahani, Peter Blattmann, Fabienne Meier-Abt, Wenguang Shao, Olga Vitek, Hua Tang, Ruedi Aebersold
Summary: In this study, a computational algorithm was developed to detect altered protein complexes based on the systematic assessment of subunit ratios from quantitative proteomic measurements. By applying this algorithm, significant remodeling of HDAC2 epigenetic complexes in breast cancer was identified.
Article
Medicine, Research & Experimental
Junshu Li, Yanhong Ji, Na Chen, Huiling Wang, Chao Fang, Xiaonan Yin, Zhiyuan Jiang, Zhexu Dong, Dan Zhu, Jiamei Fu, Wencheng Zhou, Ruiyi Jiang, Ling He, Zhang Hantao, Gang Shi, Lin Cheng, Xiaolan Su, Lei Dai, Hongxin Deng
Summary: This study identified a specific upregulated lncRNA (SURC) in colorectal cancer (CRC), and its high expression was associated with poorer prognosis in CRC patients. Further investigation revealed that mutated adenomatous polyposis coli (APC) genes can promote the transcription of SURC by reducing the degradation of beta-catenin protein. Functional assays showed that knockdown of SURC impaired CRC cell proliferation and tumor growth. Additionally, SURC promotes CCND2 expression by inhibiting the expression of miR-185-5p in CRC cells.
Article
Microbiology
Oran Erster, Itzchak Levy, Areej Kabat, Batya Mannasse, Virginia Levy, Hadar Assraf, Roberto Azar, Haim Ben-Zvi, Ritta Bradenstein, Olga Bunder, Ayman Fadeela, Ayelet Keren-Naus, Avi Peretz, Diana Roif-Kaminsky, Lolu Saleh, Licita Schreiber, Orna Schwartz, Pninit Shaked-Mishan, Nadav Sorek, Merav Strauss, Rachel Steinberg, Orit Treygerman, Simona Zisman-Rozen, Ruth Yishai, Noa Tejman-Yarden, Ella Mendelson, Danit Sofer
Summary: This study conducted the first national scale evaluation of commercial PCR kits for monkeypox virus detection. The results showed that the commercial kits had similar sensitivity to the in-house assay for detecting samples with low viral loads, but significant differences were observed in Cq values and relative fluorescence. This study provides important information for diagnostic laboratories to choose the appropriate assay for monkeypox virus detection.
MICROBIOLOGY SPECTRUM
(2023)
Article
Dermatology
Sharmeen Chagani, Mariana P. De Macedo, Fernando Carapeto, Feng Wang, Diego M. Marzese, Khalida Wani, Lauren E. Haydu, Weiyi Peng, Giang T. Ong, Sarah E. Warren, Joseph M. Beechem, Dave S. B. Hoon, Gordon B. Mills, Michael T. Tetzlaff, Alexander J. Lazar, Lawrence N. Kwong, Michael A. Davies
Summary: Loss of PTEN protein expression in melanoma is associated with increased cancer aggressiveness, decreased tumor immune infiltration, and resistance to immune and targeted therapies.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Genetics & Heredity
Theo Charnay, Veronique Blanck, Mathieu Cerino, Marc Bartoli, Florence Riccardi, Nathalie Bonello-Palot, Christophe Pecheux, Karine Nguyen, Nicolas Levy, Svetlana Gorokhova, Martin Krahn
Summary: Recent advances in sequencing technologies and the establishment of international standards for variant interpretation have led to a significant shift in diagnostic approaches in clinical genetics. However, the reclassification of variants that were originally considered pathogenic is still lacking in scientific literature and variant databases, hindering the interpretation of diagnostic sequencing results.
GENETICS IN MEDICINE
(2021)
Review
Cell Biology
Antonella Lettieri, Roberto Oleari, Alyssa J. J. Paganoni, Cristina Gervasini, Valentina Massa, Alessandro Fantin, Anna Cariboni
Summary: CHD7 is a chromatin remodeler protein that controls gene expression by forming multi-protein complexes with specific transcription factors. It plays roles in both the central nervous system and the peripheral nervous system, as well as organs colonized by neural crest cells such as the heart. Mutated CHD7 is associated with CHARGE syndrome and various neoplastic transformations. Recent evidence suggests genetic interactions between CHD7 and semaphorins in developmental processes and cancer progression.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Ralf S. Schmid, Xuefeng Deng, Priyalakshmi Panikker, Msema Msackyi, Camilo Breton, James M. Wilson
Summary: Gene editing technology shows potential in treating Angelman syndrome in a mouse model by partially correcting behavioral phenotypes. This therapeutic approach aims to unsilence the paternal gene in neurons, providing lasting therapeutic effects for patients with AS.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Engineering, Chemical
Alan W. Weimer
Summary: This passage describes the commercialization paths of two new powder processing technologies, which started as laboratory curiosities and eventually became two new businesses. Both projects faced skepticism, technical and financial challenges. One project involved a collaboration with a major chemical company to synthesize advanced non-oxide powder materials using a newly discovered processing route. The other project resulted in the establishment of a spinoff company from a university lab, focusing on novel coating of particles to functionalize surfaces. These successes were attributed to understanding scientific and engineering fundamentals, intellectual property protection, and identifying viable market opportunities.