RETRACTED: Association of transforming growth factor beta-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis (Retracted article. See vol. 271, pg. 69, 2014)
被引:4
作者:
Alcinyi, M. V.
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Groote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South AfricaGroote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South Africa
Alcinyi, M. V.
[1
]
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Dandara, C.
[2
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Garnieldien, J.
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Univ Western Cape, S African Natl Bioinformat Inst, Bellville, South AfricaGroote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South Africa
Garnieldien, J.
[3
]
Heckmann, J. M.
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Groote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South AfricaGroote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South Africa
Heckmann, J. M.
[1
]
机构:
[1] Groote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South Africa
[2] Univ Cape Town, Fac Hlth Sci, Div Human Genet Clin & Lab Sci, ZA-7925 Cape Town, South Africa
[3] Univ Western Cape, S African Natl Bioinformat Inst, Bellville, South Africa
We investigated the association of an ophthalmoplegic complication developing in African myasthenia gravis (MG) subjects with polymorphisms in the regulatory region of TGFB1. We found significant associations with several putative functional single nucleotide polymorphisms (SNPs) (including two novel SNPs) that potentially alter transcription factor binding. Our data support a hypothesis that altered TGFB1 regulation may predispose individuals who harbour these SNPs to developing ophthalmoplegia as a result of increased TGF-beta 1 driven myofibrosis as a consequence to complement-mediated damage. (C) 2012 Elsevier B.V. All rights reserved.
机构:
St Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
St Louis Univ, Dept Pharmacol & Physiol Sci, St Louis, MO 63104 USA
St Louis Univ, Dept Neurol & Psychiat, St Louis, MO 63104 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Kusner, Linda L.
Young, Andrew
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机构:
Case Western Reserve Univ, Dept Neurol, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Young, Andrew
Tjoe, Steven
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机构:
Case Western Reserve Univ, Dept Neurol, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Tjoe, Steven
Leahy, Patrick
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机构:
Case Western Reserve Univ, Case Comprehens Canc Ctr, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Leahy, Patrick
Kaminski, Henry J.
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机构:
St Louis Univ, Dept Neurol & Psychiat, St Louis, MO 63104 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Pacheco-Pinedo, Eugenia C.
Budak, Murat T.
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机构:
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USA
Univ Penn, Dept Cell & Dev Biol, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Budak, Murat T.
Zeiger, Ulrike
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机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Zeiger, Ulrike
Jorgensen, Louise Helskov
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机构:
Univ So Denmark, Inst Clin Res, Odense, Denmark
Univ So Denmark, Dept Clin Pathol, Odense, DenmarkUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Jorgensen, Louise Helskov
Bogdanovich, Sasha
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机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Bogdanovich, Sasha
Schroder, Henrik Daa
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Univ So Denmark, Dept Clin Pathol, Odense, DenmarkUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Schroder, Henrik Daa
Rubinstein, Neal A.
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机构:
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USA
Univ Penn, Dept Cell & Dev Biol, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Rubinstein, Neal A.
Khurana, Tejvir S.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
机构:
St Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
St Louis Univ, Dept Pharmacol & Physiol Sci, St Louis, MO 63104 USA
St Louis Univ, Dept Neurol & Psychiat, St Louis, MO 63104 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Kusner, Linda L.
Young, Andrew
论文数: 0引用数: 0
h-index: 0
机构:
Case Western Reserve Univ, Dept Neurol, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Young, Andrew
Tjoe, Steven
论文数: 0引用数: 0
h-index: 0
机构:
Case Western Reserve Univ, Dept Neurol, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Tjoe, Steven
Leahy, Patrick
论文数: 0引用数: 0
h-index: 0
机构:
Case Western Reserve Univ, Case Comprehens Canc Ctr, Cleveland, OH 44106 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
Leahy, Patrick
Kaminski, Henry J.
论文数: 0引用数: 0
h-index: 0
机构:
St Louis Univ, Dept Neurol & Psychiat, St Louis, MO 63104 USASt Louis Univ, Dept Ophthalmol, St Louis Sch Med, St Louis, MO 63104 USA
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Pacheco-Pinedo, Eugenia C.
Budak, Murat T.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USA
Univ Penn, Dept Cell & Dev Biol, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Budak, Murat T.
Zeiger, Ulrike
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Zeiger, Ulrike
Jorgensen, Louise Helskov
论文数: 0引用数: 0
h-index: 0
机构:
Univ So Denmark, Inst Clin Res, Odense, Denmark
Univ So Denmark, Dept Clin Pathol, Odense, DenmarkUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Jorgensen, Louise Helskov
Bogdanovich, Sasha
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Bogdanovich, Sasha
Schroder, Henrik Daa
论文数: 0引用数: 0
h-index: 0
机构:
Univ So Denmark, Dept Clin Pathol, Odense, DenmarkUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Schroder, Henrik Daa
Rubinstein, Neal A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USA
Univ Penn, Dept Cell & Dev Biol, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA
Rubinstein, Neal A.
Khurana, Tejvir S.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USAUniv Penn, Dept Physiol, Philadelphia, PA 19104 USA