Search

Your search keyword '"Nicolaou, N. (Nayia)"' showing total 2 results
Start Over Author "Nicolaou, N. (Nayia)"
2 results on '"Nicolaou, N. (Nayia)"'

1. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Author

MacKenzie, K.C., Graaf, B.M. (Bianca) de, Syrimis, A., Zhao, Y, Brosens, E. (Erwin), Mancini, G.M.S. (Grazia), Schot, R. (Rachel), Halley, D., Wilke, M. (Martina), Vøllo, A., Flinter, F. (Frances), Green, A., Mansour, S, Pilch, J. (Jacek), Stark, Z, Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R.M.W. (Robert), Jongbloed, J.D., Nicolaou, N. (Nayia), Tanteles, G.A., Brooks, A.S. (Alice), Alves, M.M. (Maria), MacKenzie, K.C., Graaf, B.M. (Bianca) de, Syrimis, A., Zhao, Y, Brosens, E. (Erwin), Mancini, G.M.S. (Grazia), Schot, R. (Rachel), Halley, D., Wilke, M. (Martina), Vøllo, A., Flinter, F. (Frances), Green, A., Mansour, S, Pilch, J. (Jacek), Stark, Z, Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R.M.W. (Robert), Jongbloed, J.D., Nicolaou, N. (Nayia), Tanteles, G.A., Brooks, A.S. (Alice), and Alves, M.M. (Maria)

Abstract

Goldberg–Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge, this is the first time that missense variants have been reported in GOSHS. We functionally investigated the effect of the variants identified, in an attempt to find a genotype–phenotype correlation. We also determined whether common Hirschsprung disease (HSCR)‐associated single nucleotide polymorphisms (SNPs), could explain the presence of HSCR in GOSHS. Our results showed that the missense variants led to reduced expression of KIFBP, while the truncating variants resulted in lack of protein. However, no correlation was found between the severity of GOSHS and the location of the variants. We were also unable to find a correlation between common HSCR‐associated SNPs, and HSCR development in GOSHS. In conclusion, we show that reduced, as well as lack of KIFBP expression can lead to GOSHS, and our results suggest that a threshold expression of KIFBP may modulate phenotypic variability of the disease.

Published
2020
Full Text
View/download PDF

2. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study

Author

Majounie, E. (Elisa), Renton, A. (Alan), Mok, K. (Kin), Dopper, E.G.P. (Elise), Waite, A. (Adrian), Rollinson, S. (Sara), Chiò, A. (Adriano), Restagno, G. (Gabriella), Nicolaou, N. (Nayia), Simón-Sánchez, J. (Javier), Swieten, J.C. (John) van, Abramzon, Y. (Yevgeniya), Johnson, J. (Janel), Sendtner, M. (Michael), Pamphlett, R. (Roger), Orrell, R. (Richard), Mead, S. (Simon), Sidle, K.C. (Katie), Houlden, H. (Henry), Rohrer, J.D. (Jonathan), Morrison, K.E. (Karen), Pall, H. (Hardev), Talbot, D., Ansorge, O. (Olaf), Hernandez, D.G. (Dena), Arepalli, S. (Sampath), Sabatelli, M. (Mario), Mora, G. (Gabriele), Corbo, J.C. (Joseph), Giannini, F. (Fabio), Calvo, A. (Andrea), Englund, E. (Elisabet), Borghero, G. (Giuseppe), Floris, O.A.M., Remes, A. (Anne), Laaksovirta, H. (Hannu), McCluskey, L. (Leo), Trojanowski, J.Q. (John), Deerlin, V.M. (Vivianna), Schellenberg, G.D. (Gerard), Nalls, M.A. (Michael), Drory, V.E. (Vivian E), Lu, C.S. (Chin-Song), Yeh, T.-H. (Tu-Hsueh), Ishiura, H. (Hiroyuki), Takahashi, Y. (Yukari), Tsuji, S. (Shoji), Le Ber, I. (Isabelle), Brice, A., Drepper, C. (Carsten), Williams, N. (Nigel), Kirby, J. (Janine), Shaw, P.J. (Pamela), Hardy, J. (John), Tienari, P.J. (Pentti), Heutink, P. (Peter), Morris, H. (Huw), Pickering-Brown, S. (Stuart), Traynor, B.J. (Bryan), Majounie, E. (Elisa), Renton, A. (Alan), Mok, K. (Kin), Dopper, E.G.P. (Elise), Waite, A. (Adrian), Rollinson, S. (Sara), Chiò, A. (Adriano), Restagno, G. (Gabriella), Nicolaou, N. (Nayia), Simón-Sánchez, J. (Javier), Swieten, J.C. (John) van, Abramzon, Y. (Yevgeniya), Johnson, J. (Janel), Sendtner, M. (Michael), Pamphlett, R. (Roger), Orrell, R. (Richard), Mead, S. (Simon), Sidle, K.C. (Katie), Houlden, H. (Henry), Rohrer, J.D. (Jonathan), Morrison, K.E. (Karen), Pall, H. (Hardev), Talbot, D., Ansorge, O. (Olaf), Hernandez, D.G. (Dena), Arepalli, S. (Sampath), Sabatelli, M. (Mario), Mora, G. (Gabriele), Corbo, J.C. (Joseph), Giannini, F. (Fabio), Calvo, A. (Andrea), Englund, E. (Elisabet), Borghero, G. (Giuseppe), Floris, O.A.M., Remes, A. (Anne), Laaksovirta, H. (Hannu), McCluskey, L. (Leo), Trojanowski, J.Q. (John), Deerlin, V.M. (Vivianna), Schellenberg, G.D. (Gerard), Nalls, M.A. (Michael), Drory, V.E. (Vivian E), Lu, C.S. (Chin-Song), Yeh, T.-H. (Tu-Hsueh), Ishiura, H. (Hiroyuki), Takahashi, Y. (Yukari), Tsuji, S. (Shoji), Le Ber, I. (Isabelle), Brice, A., Drepper, C. (Carsten), Williams, N. (Nigel), Kirby, J. (Janine), Shaw, P.J. (Pamela), Hardy, J. (John), Tienari, P.J. (Pentti), Heutink, P. (Peter), Morris, H. (Huw), Pickering-Brown, S. (Stuart), and Traynor, B.J. (Bryan)

Abstract

Background: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods: We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings: In patients with sporadic ALS, we identified the repeat expansion in 236 (7·0%) of 3377 white individuals from the USA, Europe, and Australia, two (4·1%) of 49 black i

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results