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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. / Yokote, Koutaro; Chanprasert, Sirisak; Lee, Lin; Eirich, Katharina; Takemoto, Minoru; Watanabe, Aki; Koizumi, Naoko; Lessel, Davor; Mori, Takayasu; Hisama, Fuki M; Ladd, Paula D; Angle, Brad; Baris, Hagit; Cefle, Kivanc; Palanduz, Sukru; Ozturk, Sukru; Chateau, Antoinette; Deguchi, Kentaro; Easwar, T K M; Federico, Antonio; Fox, Amy; Grebe, Theresa A; Hay, Beverly; Nampoothiri, Sheela; Seiter, Karen; Streeten, Elizabeth; Piña-Aguilar, Raul E; Poke, Gemma; Poot, Martin; Posmyk, Renata; Martin, George M; Kubisch, Christian; Schindler, Detlev; Oshima, Junko.

In: HUM MUTAT, Vol. 38, No. 1, 01.2017, p. 7-15.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Yokote, K, Chanprasert, S, Lee, L, Eirich, K, Takemoto, M, Watanabe, A, Koizumi, N, Lessel, D, Mori, T, Hisama, FM, Ladd, PD, Angle, B, Baris, H, Cefle, K, Palanduz, S, Ozturk, S, Chateau, A, Deguchi, K, Easwar, TKM, Federico, A, Fox, A, Grebe, TA, Hay, B, Nampoothiri, S, Seiter, K, Streeten, E, Piña-Aguilar, RE, Poke, G, Poot, M, Posmyk, R, Martin, GM, Kubisch, C, Schindler, D & Oshima, J 2017, 'WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.', HUM MUTAT, vol. 38, no. 1, pp. 7-15. https://doi.org/10.1002/humu.23128

APA

Yokote, K., Chanprasert, S., Lee, L., Eirich, K., Takemoto, M., Watanabe, A., Koizumi, N., Lessel, D., Mori, T., Hisama, F. M., Ladd, P. D., Angle, B., Baris, H., Cefle, K., Palanduz, S., Ozturk, S., Chateau, A., Deguchi, K., Easwar, T. K. M., ... Oshima, J. (2017). WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. HUM MUTAT, 38(1), 7-15. https://doi.org/10.1002/humu.23128

Vancouver

Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A et al. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. HUM MUTAT. 2017 Jan;38(1):7-15. https://doi.org/10.1002/humu.23128

Bibtex

@article{003c04a299434003aefdf12bff3ebfec,
title = "WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.",
abstract = "Werner syndrome is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimizations of various aspects of DNA metabolism, including DNA repair, recombination, replication and transcription. In this update, we summarize a total of 83 different WRN mutations, including 8 previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of Werner syndrome patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for Werner syndrome patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation. This article is protected by copyright. All rights reserved.",
author = "Koutaro Yokote and Sirisak Chanprasert and Lin Lee and Katharina Eirich and Minoru Takemoto and Aki Watanabe and Naoko Koizumi and Davor Lessel and Takayasu Mori and Hisama, {Fuki M} and Ladd, {Paula D} and Brad Angle and Hagit Baris and Kivanc Cefle and Sukru Palanduz and Sukru Ozturk and Antoinette Chateau and Kentaro Deguchi and Easwar, {T K M} and Antonio Federico and Amy Fox and Grebe, {Theresa A} and Beverly Hay and Sheela Nampoothiri and Karen Seiter and Elizabeth Streeten and Pi{\~n}a-Aguilar, {Raul E} and Gemma Poke and Martin Poot and Renata Posmyk and Martin, {George M} and Christian Kubisch and Detlev Schindler and Junko Oshima",
note = "This article is protected by copyright. All rights reserved.",
year = "2017",
month = jan,
doi = "10.1002/humu.23128",
language = "English",
volume = "38",
pages = "7--15",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

AU - Yokote, Koutaro

AU - Chanprasert, Sirisak

AU - Lee, Lin

AU - Eirich, Katharina

AU - Takemoto, Minoru

AU - Watanabe, Aki

AU - Koizumi, Naoko

AU - Lessel, Davor

AU - Mori, Takayasu

AU - Hisama, Fuki M

AU - Ladd, Paula D

AU - Angle, Brad

AU - Baris, Hagit

AU - Cefle, Kivanc

AU - Palanduz, Sukru

AU - Ozturk, Sukru

AU - Chateau, Antoinette

AU - Deguchi, Kentaro

AU - Easwar, T K M

AU - Federico, Antonio

AU - Fox, Amy

AU - Grebe, Theresa A

AU - Hay, Beverly

AU - Nampoothiri, Sheela

AU - Seiter, Karen

AU - Streeten, Elizabeth

AU - Piña-Aguilar, Raul E

AU - Poke, Gemma

AU - Poot, Martin

AU - Posmyk, Renata

AU - Martin, George M

AU - Kubisch, Christian

AU - Schindler, Detlev

AU - Oshima, Junko

N1 - This article is protected by copyright. All rights reserved.

PY - 2017/1

Y1 - 2017/1

N2 - Werner syndrome is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimizations of various aspects of DNA metabolism, including DNA repair, recombination, replication and transcription. In this update, we summarize a total of 83 different WRN mutations, including 8 previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of Werner syndrome patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for Werner syndrome patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation. This article is protected by copyright. All rights reserved.

AB - Werner syndrome is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimizations of various aspects of DNA metabolism, including DNA repair, recombination, replication and transcription. In this update, we summarize a total of 83 different WRN mutations, including 8 previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of Werner syndrome patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for Werner syndrome patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation. This article is protected by copyright. All rights reserved.

U2 - 10.1002/humu.23128

DO - 10.1002/humu.23128

M3 - SCORING: Journal article

C2 - 27667302

VL - 38

SP - 7

EP - 15

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 1

ER -