Results 91 to 100 of about 823,839 (283)

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Advanced Materials for Biologics Delivery to Brain Tumors

Advanced Materials, EarlyView.
Material innovation is central to unlocking the therapeutic potential of biologics against many central nervous system diseases, including brain cancer. By engineering carriers with controlled transport, targeting, and release properties, advanced materials can overcome the blood–brain barrier and tumor microenvironment, improving the delivery of ...
Yuran Feng, Yuxue Cao, Maria Kavallaris, Taskeen Janjua, Amirali Popat   +4 more
wiley   +1 more source

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

BMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong   +5 more
doaj   +1 more source

Diagnostic value of partial exome sequencing in developmental disorders.

PLoS ONE, 2018
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump   +19 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Single‐Cell Transcriptomic Analysis of Tumor Heterogeneity and the Microenvironment in Pseudomyxoma Peritonei

Advanced Science, EarlyView.
This study presents a single‐cell atlas of pseudomyxoma peritonei spanning primary and paired metastatic lesions. Distinct epithelial substates, stromal remodeling, immune exclusion, lipid metabolic reprogramming, and a candidate angiogenic network were identified in metastatic lesions.
Xi Li, Lei Wang, Lei Ai, Zimeng Li, Zhaochangci Chen, Yuchen Luo, Tianran Zhang, Mengjia Liao, Songhao Wang, Jiajia Cui, Ke Liu, Chengxian Guo, Guodong Liu, Jiye Yin, Wei Wu   +14 more
wiley   +1 more source

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

BMC Medical Genomics
Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders.
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu   +8 more
doaj   +1 more source

Clinical exome sequencing – Norwegian findings [PDF]

Tidsskrift for Den norske legeforening, 2015
New DNA-sequencing technology is revolutionising medical diagnostics. Through the use of exome sequencing, it is now possible to sequence all human genes in parallel. This technology has been widely used in research over the last few years and is now also being applied to diagnostics.
Øystein L, Holla, Øyvind L, Busk, Kristian, Tveten, Hilde T, Hilmarsen, Linda, Strand, Helle, Høyer, Anette, Bakken, Camilla F, Skjelbred, Geir J, Braathen   +8 more
openaire   +2 more sources

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Plant Sequence Capture Optimised for Illumina Sequencing

Bio-Protocol, 2014
Plant Sequence Capture is used for targeted resequencing of whole exomes (all exons of a genome) of complex genomes e.g. barley and its relatives (Mascher et al., 2013).
Axel Himmelbach, Manuela Knauft , Nils Stein   +2 more
doaj   +1 more source