A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies

被引：4
|
作者：
Rae, Byung Gi [1 ,2 ]
Kim, Hee Jung [3 ]
Lee, Sang-Guk [4 ]
Choi, Jong Rak [4 ]
Hwang, Chul [5 ,6 ]
Lee, Jeung Hoon [5 ,6 ]
Lee, Kyung-A [4 ]
Lee, Min-Geol [1 ,2 ]
机构：
[1] Yonsei Univ, Coll Med, Dept Dermatol, Seoul 120752, South Korea
[2] Yonsei Univ, Coll Med, Cutaneous Biol Res Inst, Brain Korea Project Med Sci 21, Seoul 120752, South Korea
[3] Sungkyunkwan Univ, Sch Med, Kangbuk Samsung Hosp, Dept Dermatol, Seoul, South Korea
[4] Yonsei Univ, Coll Med, Dept Lab Med, Seoul 120752, South Korea
[5] Chungnam Natl Univ, Dept Dermatol, Coll Med, Taejon, South Korea
[6] Chungnam Natl Univ, Med Res Inst, Taejon, South Korea
来源：
ACTA DERMATO-VENEREOLOGICA | 2011年 / 91卷 / 01期
关键词：
TUMOR-SUPPRESSOR; PROSTATE-CANCER; GENE; DIAGNOSIS;
D O I：
10.2340/00015555-0994
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：88 / 90
页数：3
相关论文
共 50 条
  • [21] Immunohistochemical Staining of Thyroidectomy Specimens for PTEN Can Aid in the Identification of Patients With Cowden Syndrome
    Barletta, Justine A.
    Bellizzi, Andrew M.
    Hornick, Jason L.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2011, 35 (10) : 1505 - 1511
  • [22] Impact of vascular anomalies on the PTEN phenotype in children and young adults
    Gurunathan, Arun
    Ricci, Kiersten
    Iacobas, Ionela
    Rednam, Surya P.
    Wusik, Katie
    Fei, Lin
    Hammilll, Adrienne M.
    PEDIATRIC BLOOD & CANCER, 2020, 67 (06)
  • [23] Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features
    Pilarski, Robert
    Stephens, Julie A.
    Noss, Ryan
    Fisher, James L.
    Prior, Thomas W.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 (08) : 505 - 512
  • [24] A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer
    Pradella, Laura Maria
    Evangelisti, Cecilia
    Ligorio, Claudia
    Ceccarelli, Claudio
    Neri, Iria
    Zuntini, Roberta
    Amato, Laura Benedetta
    Ferrari, Simona
    Martelli, Alberto Maria
    Gasparre, Giuseppe
    Turchetti, Daniela
    BMC CANCER, 2014, 14
  • [25] Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy
    Conti, Sara
    Condo, Maria
    Posar, Annio
    Mari, Francesca
    Resta, Nicoletta
    Renieri, Alessandra
    Neri, Iria
    Patrizi, Annalisa
    Parmeggiani, Antonia
    JOURNAL OF CHILD NEUROLOGY, 2012, 27 (03) : 392 - 397
  • [26] Screening-detected breast carcinoma in a patient with Cowden syndrome
    Baù, MG
    Arisio, R
    Cristini, G
    Bertone, E
    Campogrande, M
    BREAST, 2004, 13 (03) : 239 - 241
  • [27] A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome
    Bellido, Virginia
    Larranaga, Ihintza
    Guimon, Maite
    Martinez-Conde, Rafael
    Eguia, Asier
    Perez de Nanclares, Gustavo
    Castano, Luis
    Gaztambide, Sonia
    ENDOCRINE PATHOLOGY, 2016, 27 (02) : 142 - 146
  • [28] Novel ARX mutation identified in infantile spasm syndrome patient
    Takeshita, Yohei
    Ohto, Tatsuyuki
    Enokizono, Takashi
    Tanaka, Mai
    Suzuki, Hisato
    Fukushima, Hiroko
    Uehara, Tomoko
    Takenouchi, Toshiki
    Kosaki, Kenjiro
    Takada, Hidetoshi
    HUMAN GENOME VARIATION, 2020, 7 (01)
  • [29] Identification of a novel mutation in an Indian patient with CAII deficiency syndrome
    Shivaprasad, C.
    Paliwal, P.
    Khadgawat, R.
    Sharma, A.
    JOURNAL OF POSTGRADUATE MEDICINE, 2010, 56 (04) : 290 - 292
  • [30] Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation
    Yu, Wanfeng
    He, Xin
    Ni, Ying
    Ngeow, Joanne
    Eng, Charis
    HUMAN MOLECULAR GENETICS, 2015, 24 (01) : 142 - 153
12345