Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome;: no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

被引：28

作者：

Ki, CS ^{[1
]}

Jin, DK ^{[1
]}

Chang, SH ^{[1
]}

Kim, JE ^{[1
]}

Kim, JW ^{[1
]}

Park, BK ^{[1
]}

Choi, JH ^{[1
]}

Park, IS ^{[1
]}

Yoo, HW ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 135710, South Korea

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 06期

关键词：

D O I：

10.1111/j.1399-0004.00535.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：561 / 563

页数：3

共 50 条

[41] Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
Hironori Hara
Norifumi Takeda
Takayuki Fujiwara
Hiroki Yagi
Sonoko Maemura
Tsubasa Kanaya
Kan Nawata
Hiroyuki Morita
Issei Komuro
Human Genome Variation, 6
[42] Serum Levels of Matrix Metalloproteinases 2 and 9 and TGFBR2 Gene Screening in Patients with Ascending Aortic Dilatation
Simova, J.
Skvor, J.
Reissigova, J.
Dudra, J.
Lindner, J.
Capek, P.
Zvarova, J.
FOLIA BIOLOGICA, 2013, 59 (04) : 154 - 161
[43] Intrafamilial variability of cardiovascular abnormalities associated with the p.R460H mutation of the TGFBR2 gene
Michalowska, Anna
Poninska, Joanna
Chmielewski, Przemyslaw
Michalowska, Ilona
Ploski, Rafal
Bilinska, Zofia T.
POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ, 2020, 130 (7-8): : 676 - 678
[44] Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
Bitarafan, Fatemeh
Razmara, Ehsan
Khodaeian, Mehrnoosh
Keramatipour, Mohammad
Kalhor, Alireza
Jafarinia, Ehsan
Garshasbi, Masoud
MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (08):
[45] Arterial elongation and tortuosity leads to detection of a de novo TGFBR2 mutation in a young patient with complex aortic pathology
van de Luijtgaarden, Koen M.
Bastos Gonalves, Frederico
Majoor-Krakauer, Danielle
Verhagen, Hence J. M.
EUROPEAN HEART JOURNAL, 2013, 34 (15) : 1133 - 1133
[46] Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1
Shang, Renjie
Sun, Junyi
Banuelos, Amira G. Flores
Zhou, Yang
Liang, David H.
Wu, Joseph C.
STEM CELL RESEARCH, 2025, 83
[47] PIEZO1 attenuates Marfan syndrome aneurysm development through TGF-β signaling pathway inhibition via TGFBR2
Yang, Peiwen
Liu, Hao
Wang, Shilin
Xiao, Xiaoyue
Jiang, Lang
Le, Sheng
Chen, Shanshan
Ye, Ping
Xia, Jiahong
EUROPEAN HEART JOURNAL, 2024, 46 (10) : 958 - 974
[48] Loeys-Dietz syndrome (TGFβR2mutation) in a 4-year-old child with thoracic aortic aneurysm
De Potter, M. -J.
Edouard, T.
Amadieu, R.
Plaisancie, J.
Julia, S.
Hadeed, K.
Hascoet, S.
Acar, P.
Dulac, Y.
ARCHIVES DE PEDIATRIE, 2016, 23 (05): : 504 - 507
[49] Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
Attias, David
Stheneur, Chantal
Roy, Carine
Collod-Beroud, Gwenaelle
Detaint, Delphine
Faivre, Laurence
Delrue, Marie-Ange
Cohen, Laurence
Francannet, Christine
Beroud, Christophe
Claustres, Mireille
Iserin, Franck
Van Kien, Philippe Khau
Lacombe, Didier
Le Merrer, Martine
Lyonnet, Stanislas
Odent, Sylvie
Plauchu, Henri
Rio, Marlene
Rossi, Annick
Sidi, Daniel
Steg, Philippe Gabriel
Ravaud, Philippe
Boileau, Catherine
Jondeau, Guillaume
CIRCULATION, 2009, 120 (25) : 2541 - 2549
[50] Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations
Soeylen, B.
Singh, K. K.
Abuzainin, A.
Rommel, K.
Becker, H.
Arslan-Kirchner, M.
Schmidtke, J.
CLINICAL GENETICS, 2009, 75 (03) : 265 - 270

← 1 2 3 4 5 →