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4 results on '"Foo, J.N."'

1. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Author

Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S, Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., and Siddiqi, S

Abstract

Contains fulltext : 169958.pdf (publisher's version ) (Open Access), A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

Published
2017

2. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Author

Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S, Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., and Siddiqi, S

Abstract

Contains fulltext : 169958.pdf (publisher's version ) (Open Access), A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

Published
2017

3. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Author

Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S, Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., and Siddiqi, S

Abstract

Contains fulltext : 169958.pdf (publisher's version ) (Open Access), A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

Published
2017

4. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Author

Li, J. (Jingmei), Lindström, L.S. (Linda), Foo, J.N. (Jia), Rafiq, M. (Meena), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Veer, L.J. (Laura) van 't, Cornelissen, S. (Sten), Rutgers, E.J.T. (Emiel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Dite, G.S. (Gillian), Hopper, J.L. (John), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Investigators, K. (Kconfab), Phillips, K.-A. (Kelly-Anne), McLachlan, S.-A. (Sue-Anne), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Smeets, A. (Ann), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Rudolph, A. (Anja), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Li, Y. (Yi), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rüdiger, T. (Thomas), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Chen, S.-T. (Shou-Tung), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Har Yip, C. (Cheng), Fuang Ho, G. (Gwo), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue), Yoo, K-Y. (Keun-Young), Maishman, T. (Tom), Tapper, W. (William), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Chuen Khor, C. (Chiea), Eccles, D. (Diana), Nevanlinna, H. (Heli), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Czene, K. (Kamila), Li, J. (Jingmei), Lindström, L.S. (Linda), Foo, J.N. (Jia), Rafiq, M. (Meena), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Veer, L.J. (Laura) van 't, Cornelissen, S. (Sten), Rutgers, E.J.T. (Emiel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Dite, G.S. (Gillian), Hopper, J.L. (John), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Investigators, K. (Kconfab), Phillips, K.-A. (Kelly-Anne), McLachlan, S.-A. (Sue-Anne), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Smeets, A. (Ann), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Rudolph, A. (Anja), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Li, Y. (Yi), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rüdiger, T. (Thomas), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Chen, S.-T. (Shou-Tung), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Har Yip, C. (Cheng), Fuang Ho, G. (Gwo), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue), Yoo, K-Y. (Keun-Young), Maishman, T. (Tom), Tapper, W. (William), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Chuen Khor, C. (Chiea), Eccles, D. (Diana), Nevanlinna, H. (Heli), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), and Czene, K. (Kamila)

Abstract

Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204-A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10 â ̂'9). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities.

Published
2014
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