Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.

Autor: Eric D Wieben, Ross A Aleff, Shubham Basu, Vivekananda Sarangi, Brett Bowman, Ian J McLaughlin, John R Mills, Malinda L Butz, Edward W Highsmith, Cristiane M Ida, Jenny M Ekholm, Keith H Baratz, Michael P Fautsch

Publikováno v: PLoS ONE, Vol 14, Iss 7, p e0219446 (2019)

Amplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, a small minority of clinically unaffected elderly patients who have expanded CTG18.1

Externí odkaz: https://doaj.org/article/fad150de06174862a0800e6fb3f6dc85

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy

Autor: Keith H. Baratz, Sanjay V. Patel, Malinda L. Butz, George Vasmatzis, Edward W. Highsmith, Krishna R. Kalari, Leo J. Maguire, Jin Jen, Xiaojia Tang, Michael P. Fautsch, Ross A. Aleff, Eric D. Wieben

Publikováno v: Investigative Ophthalmology & Visual Science

Purpose To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). Methods Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4545f35aed45eff1693b4eb72117bbf2
http://europepmc.org/articles/PMC5270622

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

Autor: Vivekananda Sarangi, Shubham Basu, Michael P. Fautsch, Edward W. Highsmith, Ross A. Aleff, Eric D. Wieben, Brett Bowman, Keith H. Baratz, Cristiane M. Ida, Jenny M. Ekholm, John Mills, Ian J. McLaughlin, Malinda L. Butz

Publikováno v: PLoS ONE
PLoS ONE, Vol 14, Iss 7, p e0219446 (2019)

Amplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, a small minority of clinically unaffected elderly patients who have expanded CTG18.1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::214cd3569028d8449b0ab9449cc2b2c4
http://europepmc.org/articles/PMC6611681

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)

Autor: Ralitza H. Gavrilova, Edward W. Highsmith, Christopher J. Klein, Linda Hasadsri, Marcus V. Pinto, Jadee L. Neff, Peng Soon Ng, Mary E. Fidler

Publikováno v: Neurology: Genetics

Mitochondrial NADH dehydrogenase 5 (MT-ND5) Asp393Asn missense mutation is established to cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).1,2 We describe a case and family with this mutation and a divergent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2349e2d26dd662b5990e5236ffe9ca93
https://doi.org/10.1212/nxg.0000000000000314

Benchmarks for cystic fibrosis carrier screening: a European consensus document

Autor: Garry R. Cutting, Martin Schwarz, Elisabeth Dequeker, John Massie, Jean Jacques Cassiman, Pier Franco Pignatti, Bruno Dallapiccola, Manfred Stuhrman, Harry Cuppens, Carlo Castellani, Milan Macek, Stephan Kruip, Maria Soller, Edward W. Highsmith, Wayne W. Grody, Michael A. Morris, Helenal Kääriäinen, Ulrike Pypops, Alistair J.A. Duff, David E. Barton, Emmanuelle Girodon, Leo P. ten Kate

Publikováno v: Journal of Cystic Fibrosis, 9(3), 165-178. Elsevier
Castellani, C, Macek, M, Cassiman, J J, Duff, A, Massie, J, ten Kate, L P, Barton, D, Cutting, G, Dallapiccola, B, Dequeker, E, Girodon, E, Grody, W, Highsmith, E W, Kaariainen, H, Kruip, S, Morris, M, Pignatti, P F, Pypops, U, Schwarz, M, Soller, M, Stuhrman, M & Cuppens, H 2010, ' Benchmarks for cystic fibrosis carrier screening: a European consensus document ', Journal of Cystic Fibrosis, vol. 9, no. 3, pp. 165-178 . https://doi.org/10.1016/j.jcf.2010.02.005
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis; Vol 9

This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a prog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c4ff03b3dd3e51bd0799cda431dc94f
https://research.vumc.nl/en/publications/01bac9ec-ebfb-42ef-9245-f01c08f0c92d