Identification and Functional Validation of Rare Missense Variants in PLXNA1 as a Candidate Gene for Severe Early-onset Obesity

被引:0
|
作者
Al-Barazenji, Tara [1 ]
Hammad, Ayat [1 ]
Mohammed, Idris [2 ]
Hussain, Khalid [2 ]
Al-Shafai, Mashael [1 ]
机构
[1] Qatar Univ, Dept Biomed Sci, Coll Hlth Sci, Doha, Qatar
[2] Sidra Med, Div Endocrinol, Dept Pediat Med, Doha, Qatar
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-128
引用
收藏
页码:387 / 387
页数:1
相关论文
共 50 条
  • [31] Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients
    Venkatachalam, Ramprasath
    Verwiel, Eugene T. P.
    Kamping, Eveline J.
    Hoenselaar, Eveline
    Gorgens, Heike
    Schackert, Hans K.
    van Krieken, J. Han J. M.
    Ligtenberg, Marjolijn J. L.
    Hoogerbrugge, Nicoline
    van Kessel, Ad Geurts
    Kuiper, Roland P.
    INTERNATIONAL JOURNAL OF CANCER, 2011, 129 (07) : 1635 - 1642
  • [32] IDENTIFICATION OF RARE GENETIC VARIANTS IN PATIENTS WITH NON-SYNDROMIC EARLY-ONSET OBESITY USING A POOLED DNA SEQUENCING APPROACH
    Martos-Moreno, Gabriel A.
    Serra-Juhe, Clara
    Bou, Francesc
    Rodriguez-Santiago, Benjamin
    Flores, Raquel
    Perez-Jurado, Luis A.
    Argente, Jesus
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 36 - 37
  • [33] Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis
    Alecu, Julian E.
    Saffari, Afshin
    Jumo, Hellen
    Ziegler, Marvin
    Strelko, Oleksandr
    Brownstein, Catherine A.
    Gonzalez-Heydrich, Joseph
    Rodan, Lance H.
    Gorman, Mark P.
    Sahin, Mustafa
    Ebrahimi-Fakhari, Darius
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (04): : 570 - 576
  • [34] Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis
    Wang, Xiaopo
    Zhang, Xiaofeng
    Zhang, Wei
    Sun, Jianfang
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2018, 84 (05):
  • [35] Severe forms of presbycusis are caused by very rare variants in genes underlying early-onset forms of deafness
    Boucher, S.
    Tai, F. Wong Jun
    Lelli, A.
    Delmaghani, S.
    Singh-Estivalet, A.
    Dupont, T.
    Michel, V.
    Wolff, N.
    Bahloul, A.
    Niasme-Grare, M.
    Bouaita, A.
    Oficjalska-Pham, D.
    Chardenoux, S.
    Bouyacoub, Y.
    Bouccara, D.
    Deguine, O.
    Fraysse, B.
    Collet, L.
    Thai-Van, H.
    Ionescu, E.
    Kemeny, J.
    Giraudet, F.
    Lavieille, J.
    Deveze, A.
    Roudevitch-Pujol, A.
    Christophe, V.
    Renard, C.
    Franco-Vidal, V.
    Thibult-Apt, C.
    Darrouzet, V.
    Bizaguet, E.
    Coez, A.
    Aubois, A.
    Lefevre, G.
    Michalski, N.
    Avan, P.
    Bonnet, C.
    Petit, C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 201 - 202
  • [36] Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3
    Farooqi, I. Sadaf
    Volders, Karolien
    Stanhope, Richard
    Heuschkel, Robert
    White, Anne
    Lank, Emma
    Keogh, Julia
    O'Rahilly, Stephen
    Creemers, John W. M.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (09): : 3369 - 3373
  • [37] Association testing of the positional and functional candidate gene SLC1A1 in early-onset obsessive-compulsive disorder
    Dickel, DE
    Veenstra-Vanderweele, J
    Cox, NJ
    Wu, XL
    Fischer, DJ
    Van Etten-Lee, M
    Himle, JA
    Leventhal, BL
    Cook, EH
    Hanna, GL
    BIOLOGICAL PSYCHIATRY, 2006, 59 (08) : 127S - 127S
  • [38] Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance
    Zhang, Simin
    Gong, Siqian
    Li, Meng
    Cai, Xiaoling
    Liu, Wei
    Lou, Yingying
    Ma, Yumin
    Zhang, Xiuying
    Ren, Qian
    Zhu, Yu
    Wu, Jing
    Zhou, Lingli
    Li, Yufeng
    Zhou, Xianghai
    Han, Xueyao
    Ji, Linong
    DIABETES-METABOLISM RESEARCH AND REVIEWS, 2024, 40 (04)
  • [39] Frequency of Bardet-Biedl syndrome and Alstrom syndrome gene variants in a cohort with early-onset obesity
    Han, Joan
    Moeller, Ida
    Bend, Eric
    Haws, Robert
    GENETICS IN MEDICINE, 2022, 24 (03) : S173 - S173
  • [40] Frequency of MC4R pathway variants in a European cohort of individuals with early-onset severe obesity
    Goldstone, Anthony
    Riscart, Jesus Dominguez
    Umano, Giusi
    Hamiel, Orit
    Yildiz, Melek
    Manco, Melania
    Sleiman, Patrick
    Savoie, Charles
    Giri, Dinesh
    Argente, Jesus
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1212 - 1212