Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kay Gurtz"'
Autor:
Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi
Publikováno v:
The American Journal of Human Genetics. 87:655-660
In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2ccbdf91cc79bed25c4ce042747cec
https://doi.org/10.1016/j.ajhg.2010.09.013
https://doi.org/10.1016/j.ajhg.2010.09.013
Autor:
Yuri S. Odaka, Oscar Diaz-Horta, Xia Juan Xia, Mustafa Tekin, Juan I. Young, Jun Aruga, Yoshifumi Matsumoto, Kazuto Sakoori, Maria Grigoriadou, Suna Tokgoz-Yilmaz, Andrew H. Crosby, Heather L. Moore-Barton, Arti Pandya, Joseph Foster, Michael B. Petersen, F. Basak Cengiz, Barry A. Chioza, Duygu Duman, Harold E. Cross, Haris Kokotas, Kay Gurtz, Maya Ota, Michael A. Patton, Ajith Sreekantan-Nair, Oya Tekeli
Publikováno v:
Tekin, M, Chioza, B A, Matsumoto, Y, Diaz-Horta, O, Cross, H E, Duman, D, Kokotas, H, Moore-Barton, H L, Sakoori, K, Ota, M, Odaka, Y S, Foster, J, Cengiz, F B, Tokgoz-Yilmaz, S, Tekeli, O, Grigoriadou, M, Petersen, M B, Sreekantan-Nair, A, Gurtz, K, Xia, X-J, Pandya, A, Patton, M A, Young, J I, Aruga, J & Crosby, A H 2013, ' SLITRK6 mutations cause myopia and deafness in humans and mice ', Journal of Clinical Investigation, vol. 123, no. 5, pp. 2094-2102 . https://doi.org/10.1172/JCI65853
Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our mol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454c8f3e0629c2a7f2ce074d26832cb7
https://vbn.aau.dk/da/publications/c6f4ae3c-9162-4c9e-af3d-6120195b9a16
https://vbn.aau.dk/da/publications/c6f4ae3c-9162-4c9e-af3d-6120195b9a16
Autor:
Csaba Galambos, Andrew H. Crosby, Kamini Kalidas, Kay Gurtz, Kenneth G. Zahka, Michael A. Simpson, Bradley B. Keller, Michael A. Patton, Harold E. Cross
Publikováno v:
Heart (British Cardiac Society). 94(10)
Background Familial hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death amongst young and apparently healthy individuals. Mutations within genes encoding sarcomeric proteins have so far been defined and act in an autosomal do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b1f448eecec956620010099ab784f1c
https://pubmed.ncbi.nlm.nih.gov/18467358
https://pubmed.ncbi.nlm.nih.gov/18467358
Autor:
Frances M. Platt, Michael A. Patton, David A. Priestman, David C. A. Neville, Kay Gurtz, Michael A. Simpson, Harold E. Cross, Raymond A. Dwek, Argyro Verganelaki, Terry D. Butters, Max Wiznitzer, Gabriele Reinkensmeier, Andrew H. Crosby, Christos Proukakis, Heng Wang, Anna Pryde
Publikováno v:
Nature genetics. 36(11)
We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. Assuming a founder effect in a large Old Order Amish pedigree, we carried out a genome-wide screen for linkage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b931bd882368f1af2791cc19aa5a9d
http://ora.ox.ac.uk/objects/uuid:bee5fcc0-cd6f-424f-8b60-c1384097ecc0
http://ora.ox.ac.uk/objects/uuid:bee5fcc0-cd6f-424f-8b60-c1384097ecc0