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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. / Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana; Jensen, Lars R; Yntema, Helger G; Gécz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; Van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C J; Schweiger, Susann; Ropers, Hans-Hilger; Freude, Karla Kristine.
In:
Nature Genetics, Vol. 35, No. 4, 12.2003, p. 313-5.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Kalscheuer, VM, Freude, K, Musante, L, Jensen, LR, Yntema, HG, Gécz, J, Sefiani, A, Hoffmann, K, Moser, B, Haas, S, Gurok, U, Haesler, S, Aranda, B, Nshedjan, A, Tzschach, A, Hartmann, N, Roloff, T-C, Shoichet, S, Hagens, O, Tao, J, Van Bokhoven, H, Turner, G, Chelly, J, Moraine, C, Fryns, J-P, Nuber, U, Hoeltzenbein, M, Scharff, C, Scherthan, H, Lenzner, S, Hamel, BCJ, Schweiger, S, Ropers, H-H
& Freude, KK 2003, '
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation',
Nature Genetics, vol. 35, no. 4, pp. 313-5.
https://doi.org/10.1038/ng1264APA
Kalscheuer, V. M., Freude, K., Musante, L., Jensen, L. R., Yntema, H. G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T-C., Shoichet, S., Hagens, O.
, ... Freude, K. K. (2003).
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Nature Genetics,
35(4), 313-5.
https://doi.org/10.1038/ng1264Vancouver
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J et al.
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Nature Genetics. 2003 Dec;35(4):313-5.
https://doi.org/10.1038/ng1264Author
Kalscheuer, Vera M ; Freude, Kristine ; Musante, Luciana ; Jensen, Lars R ; Yntema, Helger G ; Gécz, Jozef ; Sefiani, Abdelaziz ; Hoffmann, Kirsten ; Moser, Bettina ; Haas, Stefan ; Gurok, Ulf ; Haesler, Sebastian ; Aranda, Beatriz ; Nshedjan, Arpik ; Tzschach, Andreas ; Hartmann, Nils ; Roloff, Tim-Christoph ; Shoichet, Sarah ; Hagens, Olivier ; Tao, Jiong ; Van Bokhoven, Hans ; Turner, Gillian ; Chelly, Jamel ; Moraine, Claude ; Fryns, Jean-Pierre ; Nuber, Ulrike ; Hoeltzenbein, Maria ; Scharff, Constance ; Scherthan, Harry ; Lenzner, Steffen ; Hamel, Ben C J ; Schweiger, Susann ; Ropers, Hans-Hilger ; Freude, Karla Kristine. / Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. In: Nature Genetics. 2003 ; Vol. 35, No. 4. pp. 313-5.
Bibtex
@article{44156819728747a3830fdbe7ea40388c,
title = "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation",
abstract = "We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.",
keywords = "Carrier Proteins, Female, Genetic Linkage, Humans, Male, Mental Retardation, X-Linked, Molecular Sequence Data, Mutation, Nuclear Proteins, Oligopeptides, Pedigree, Syndrome",
author = "Kalscheuer, {Vera M} and Kristine Freude and Luciana Musante and Jensen, {Lars R} and Yntema, {Helger G} and Jozef G{\'e}cz and Abdelaziz Sefiani and Kirsten Hoffmann and Bettina Moser and Stefan Haas and Ulf Gurok and Sebastian Haesler and Beatriz Aranda and Arpik Nshedjan and Andreas Tzschach and Nils Hartmann and Tim-Christoph Roloff and Sarah Shoichet and Olivier Hagens and Jiong Tao and {Van Bokhoven}, Hans and Gillian Turner and Jamel Chelly and Claude Moraine and Jean-Pierre Fryns and Ulrike Nuber and Maria Hoeltzenbein and Constance Scharff and Harry Scherthan and Steffen Lenzner and Hamel, {Ben C J} and Susann Schweiger and Hans-Hilger Ropers and Freude, {Karla Kristine}",
year = "2003",
month = dec,
doi = "10.1038/ng1264",
language = "English",
volume = "35",
pages = "313--5",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "4",
}
RIS
TY - JOUR
T1 - Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
AU - Kalscheuer, Vera M
AU - Freude, Kristine
AU - Musante, Luciana
AU - Jensen, Lars R
AU - Yntema, Helger G
AU - Gécz, Jozef
AU - Sefiani, Abdelaziz
AU - Hoffmann, Kirsten
AU - Moser, Bettina
AU - Haas, Stefan
AU - Gurok, Ulf
AU - Haesler, Sebastian
AU - Aranda, Beatriz
AU - Nshedjan, Arpik
AU - Tzschach, Andreas
AU - Hartmann, Nils
AU - Roloff, Tim-Christoph
AU - Shoichet, Sarah
AU - Hagens, Olivier
AU - Tao, Jiong
AU - Van Bokhoven, Hans
AU - Turner, Gillian
AU - Chelly, Jamel
AU - Moraine, Claude
AU - Fryns, Jean-Pierre
AU - Nuber, Ulrike
AU - Hoeltzenbein, Maria
AU - Scharff, Constance
AU - Scherthan, Harry
AU - Lenzner, Steffen
AU - Hamel, Ben C J
AU - Schweiger, Susann
AU - Ropers, Hans-Hilger
AU - Freude, Karla Kristine
PY - 2003/12
Y1 - 2003/12
N2 - We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
AB - We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
KW - Carrier Proteins
KW - Female
KW - Genetic Linkage
KW - Humans
KW - Male
KW - Mental Retardation, X-Linked
KW - Molecular Sequence Data
KW - Mutation
KW - Nuclear Proteins
KW - Oligopeptides
KW - Pedigree
KW - Syndrome
U2 - 10.1038/ng1264
DO - 10.1038/ng1264
M3 - Journal article
C2 - 14634649
VL - 35
SP - 313
EP - 315
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -
