CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients

被引:3
|
作者
Simoes, M. J. [1 ]
Carmona, S. [1 ,2 ]
Roberts, R. [3 ]
Wainwright, G. [3 ]
Faro, C. [1 ,4 ]
Silva, E. [5 ]
Egas, C. [4 ]
机构
[1] BIOCANT Biotechnol Innovat Ctr, Next Gen Sequencing Unit, Cantanhede, Portugal
[2] Univ Coimbra, Fac Med, Coimbra, Portugal
[3] BIOCANT Biotechnol Innovat Ctr, Interactome, Cantanhede, Portugal
[4] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal
[5] Univ Coimbra, Fac Med, Vis Psychophysiol Unit, Coimbra, Portugal
关键词
CYTOCHROME P4501B1 CYP1B1; GENE ANALYSIS; IDENTIFICATION; 2P21;
D O I
10.1080/13816810.2016.1188121
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:197 / 199
页数:3
相关论文
共 50 条
  • [1] Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1
    Hilal, Latifa
    Boutayeb, Soraya
    Serrou, Aziza
    Refass-Buret, Loubna
    Shisseh, Hafsa
    Bencherifa, Fatiha
    El Mzibri, Mohammed
    Benazzouz, Bouchra
    Berraho, Amina
    MOLECULAR VISION, 2010, 16 (135): : 1215 - 1226
  • [2] Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
    Yang, Mei
    Guo, Xiangming
    Liu, Xing
    Shen, Huangxuan
    Jia, Xiaoyun
    Xiao, Xueshan
    Li, Shiqiang
    Fang, Shaohua
    Zhang, Qingjiong
    MOLECULAR VISION, 2009, 15 (43-46): : 432 - 437
  • [3] Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma
    Shah, Manali
    Bouhenni, Rachida
    Benmerzouga, Imaan
    JOURNAL OF CLINICAL MEDICINE, 2022, 11 (07)
  • [4] CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability
    Campos-Mollo, Ezequiel
    Lopez-Garrido, Maria-Pilar
    Blanco-Marchite, Cristina
    Garcia-Feijoo, Julian
    Peralta, Jesus
    Belmonte-Martinez, Jose
    Ayuso, Carmen
    Escribano, Julio
    MOLECULAR VISION, 2009, 15 (42): : 417 - 431
  • [5] Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma
    Kabra, Meha
    Zhang, Wei
    Rathi, Sonika
    Mandal, Anil K.
    Senthil, Sirisha
    Pyatla, Goutham
    Ramappa, Muralidhar
    Banerjee, Seema
    Shekhar, Konegari
    Marmamula, Srinivas
    Mettla, Asha L.
    Kaur, Inderjeet
    Khanna, Rohit C.
    Khanna, Hemant
    Chakrabarti, Subhabrata
    HUMAN GENETICS, 2017, 136 (08) : 941 - 949
  • [6] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study
    El-Gayar, Stefan
    Ganesh, Anuradha
    Chavarria-Soley, Gabriela
    Al-Zuhaibi, Sana
    Al-Mjeni, Rayhanah
    Raeburn, Sandy
    Bialasiewicz, Alexander A.
    MOLECULAR VISION, 2009, 15 (139-40): : 1325 - 1331
  • [7] CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Turkey
    Akbas, Ahsen Cavusoglu
    Erdem, Elif
    Bozdogan, Sevcan Tug
    Harbiyeli, Ibrahim Inan
    Yagmur, Meltem
    JOURNAL OF PEDIATRIC GENETICS, 2024, 13 (04) : 277 - 282
  • [8] Investigation of CYP1B1 gene involvement in primary congenital glaucoma in Iraqi children
    Jubair, Suzanne
    Al-Rubae'i, Salwa H. N.
    Al-Sharifi, Ali N. M.
    Suleiman, Ahmed Abdul Jabbar
    MIDDLE EAST AFRICAN JOURNAL OF OPHTHALMOLOGY, 2019, 26 (04) : 203 - 209
  • [9] CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment
    Chen, Xueli
    Chen, Yuhong
    Wang, Li
    Jiang, Deke
    Wang, Wenzhang
    Xia, Mingying
    Yu, Long
    Sun, Xinghuai
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2014, 98 (02) : 246 - 251
  • [10] Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
    Tanwar, Mukesh
    Dada, Tanuj
    Sihota, Ramanjit
    Das, Taposh K.
    Yadav, Usha
    Dada, Rima
    MOLECULAR VISION, 2009, 15 (125-29): : 1200 - 1209