Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics

Autor: Kamila Prochazkova, Petr Novotny, Miroslava Hancarova, Darina Prchalova, Zdenek Sedlacek

Publikováno v: BMC Medical Education, Vol 19, Iss 1, Pp 1-8 (2019)

Abstract Background Genetic testing rapidly penetrates into all medical specialties and medical students must acquire skills in this area. However, many of them consider it difficult. Furthermore, many find these topics less appealing and not connect

Externí odkaz: https://doaj.org/article/622d7dcc852f40409be0c3b974f989cd

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Autor: Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

Abstract Background Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly de

Externí odkaz: https://doaj.org/article/3e1a867baa6841e9871a450a27e326a8

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Autor: Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper

Publikováno v: PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)

Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the matrix of genotype-phenotype relationships is still incomplete, in part because there are many

Externí odkaz: https://doaj.org/article/93967530c8af4c5fa8d3a8dbcc7ae4f4

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Autor: Sangmoon Lee, Ryojun Takeda, Nataliya Di Donato, Masashige Bando, Darina Prchalova, Mathieu Quesnel-Vallières, Seiji Mizuno, Naomichi Matsumoto, Koji Masuda, Miroslava Hancarova, Margaret Harr, Karl Hackmann, Zdenek Sedlacek, Alica Valachova, Alyssa Ritter, Eriko Nishi, Tommaso Pippucci, Michiko Arakawa, Katsuhiko Shirahige, Katsunori Fujiki, Elaine H. Zackai, Noriko Miyake, Marketa Vlckova, Ryuichiro Nakato, Aiko Iwata-Otsubo, Yoseph Barash, Christoph Seiler, Dong Li, Beth Keena, Nobuhiko Okamoto, Kosuke Izumi, Jung Min Ko, Sarah K. Fiordaliso, Elizabeth J. Bhoj, Hakon Hakonarson, Murim Choi, Jenny Morton

Publikováno v: Am J Hum Genet

NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins. Here, we report a disorder of transcriptional regulation due to missense

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e482e0e75fe75f8dd9e62c99c9b3fb4
https://doi.org/10.1016/j.ajhg.2019.09.009

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Autor: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Press

International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134