Results 101 to 110 of about 390,058 (293)

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
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Disruption of CAD Oligomerization by Pathogenic Variants

Journal of Molecular Biology
ABSTRACTCAD is a multi-enzymatic protein essential for initiating the de novo biosynthesis of pyrimidine nucleotides, forming large hexamers whose structure and function are not fully understood. Defects in CAD result in a severe neurometabolic disorder that is challenging to diagnose.
Francisco Del Caño-Ochoa, Lobna Ramadane-Morchadi, Lluís Eixerés, María Moreno-Morcillo, Rafael Fernández-Leiro, Santiago Ramón-Maiques   +5 more
openaire   +4 more sources

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Presumed TP53 mosaicism: variants detected using a NGS hereditary cancer multigene panel [PDF]

, 2019
Aims/Context: NGS multigene panels are routinely used to identify germline pathogenic variants in cancer susceptibility genes. In addition, NGS allows the identification of low-level mosaicism events that may not be detectable by conventional Sanger ...
Gonçalves, João, Rodrigues, Márcia, Rodrigues, Pedro, Silva, Catarina, Theisen, Patrícia, Vieira, Luís   +5 more
core  

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation. [PDF]

, 2018
The normally soluble TAR DNA-binding protein 43 (TDP-43) is found aggregated both in reversible stress granules and in irreversible pathogenic amyloid. In TDP-43, the low-complexity domain (LCD) is believed to be involved in both types of aggregation. To
A Jain, A Molliex, A Patel, A Saini, A Soragni, AE Conicella, AF Harrison, AJ McCoy, AK Chen, AK Walker, AWP Fitzpatrick, C Amador-Ortiz, C Colombrita, C Lagier-Tourenne, C Schwab, C Yang, C-H Chiang, CK Chang, CM Dewey, Collaborative Computational Project, Number 4., D Shi, DA Bosco, David R. Boyer, David S. Eisenberg, DS Eisenberg, DT Murray, Duilio Cascio, E Bentmann, E Buratti, E Kabashi, EB Lee, Elizabeth L. Guenther, EM Marcotte, F Meersman, GM Sheldrick, GN Murshudov, GS Pesiridis, H Nakashima-Yasuda, Hamilton Trinh, HB Schmidt, HJ Dyson, HJ Kim, HY Zoghbi, J Hattne, JA Rodriguez, Jiahui Lu, JJ Wiltzius, Jose A. Rodriguez, JP Ling, JR Wheeler, L Goldschmidt, L Lim, LC Reineke, LL Jiang, LL Jiang, LM Igaz, M Budini, M Cushman, M Hasegawa, M Kato, M Mompeán, M Neumann, M Xu, MA Gitcho, Masato Kato, MC Lawrence, MD Winn, Michael P. Hughes, Michael R. Sawaya, MP Hughes, MR Sawaya, N Gilks, N Kedersha, P Emsley, P Hackman, P-N Cheng, PD Adams, PJ Lukavsky, PM Seidler, PS Estes, Qin Cao, RA Fuentealba, S Higashi, S Xiang, SC Ling, TM Franzmann, TPJ Knowles, W Guo, W Kabsch, W Kabsch, Y Dang, Y Lin, Z Otwinowski, ZM March   +93 more
core   +1 more source

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Pediatric Neurology Briefs, 2016
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
Siddharth Srivastava, Sakkubai Naidu
openaire   +4 more sources

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)

Egyptian Journal of Medical Human Genetics
Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov   +8 more
doaj   +1 more source

Identification of intimin alleles in pathogenic Escherichia coli by PCR-restriction fragment length polymorphism analysis [PDF]

, 2008
A rapid two-step identification method based on PCR-RFLP analysis of the intimin gene was developed to differentiate specific alleles in pathogenic Escherichia coli.
Nebbia, Patrizia, Oswald, Eric, Robino, Patrizia, Tramuta, Clara   +3 more
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