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
  • [1] Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity
    Funcke, Jan-Bernd
    Moepps, Barbara
    Roos, Julian
    von Schnurbein, Julia
    Verstraete, Kenneth
    Froehlich-Reiterer, Elke
    Kohlsdorf, Katja
    Nunziata, Adriana
    Brandt, Stephanie
    Tsirigotaki, Alexandra
    Dansercoer, Ann
    Suppan, Elisabeth
    Haris, Basma
    Debatin, Klaus-Michael
    Savvides, Savvas N.
    Farooqi, I. Sadaf
    Hussain, Khalid
    Gierschik, Peter
    Fischer-Posovszky, Pamela
    Wabitsch, Martin
    NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (24): : 2253 - 2261
  • [3] Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer
    Izatt, L
    Greenman, J
    Hodgson, S
    Ellis, D
    Watts, S
    Scott, G
    Jacobs, C
    Liebmann, R
    Zvelebil, MJ
    Mathew, C
    Solomon, E
    GENES CHROMOSOMES & CANCER, 1999, 26 (04): : 286 - 294
  • [4] Missense variants in the human cholecystokinin type A receptor gene:: No evidence for association with early-onset obesity
    Hamann, A
    Büsing, B
    Münzberg, H
    de Weerth, A
    Hinney, A
    Mayer, H
    Siegfried, W
    Hebebrand, J
    Greten, H
    HORMONE AND METABOLIC RESEARCH, 1999, 31 (04) : 287 - 288
  • [5] Frequency of obesity-related gene variants in a European population with early-onset, severe obesity
    Le Roux, Carel
    Dominguez Riscart, Jesus
    Licenziati, Maria Rosaria
    Soriano-Guillen, Leandro
    Haliloglu, Belma
    Zalin, Anjali
    Madeo, Simona Filomena
    Sleiman, Patrick
    Savoie, Charles
    Kerem, Liya
    Argente, Jesus
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1214 - 1214
  • [6] Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity
    le Roux, Carel W.
    Dominguez-Riscart, Jesus
    Rosaria Licenziati, Maria
    Soriano-Guillen, Leandro
    Haliloglu, Belma
    Zalin, Anjali
    Filomena Madeo, Simona
    Sleiman, Patrick
    Savoie, Charles
    Kerem, Liya
    Argente, Jesus
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 37 - 37
  • [7] Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity
    Loid, Petra
    Mustila, Taina
    Makitie, Riikka E.
    Viljakainen, Heli
    Kampe, Anders
    Tossavainen, Paivi
    Lipsanen-Nyman, Marita
    Pekkinen, Minna
    Makitie, Outi
    FRONTIERS IN ENDOCRINOLOGY, 2020, 11
  • [8] Rare copy number variants are enriched and highlight novel pathways in individuals with early-onset severe obesity
    Pettersson, M.
    Viljakainen, H.
    Loid, P.
    Mustila, T.
    Armenio, M.
    Assarsson, J. Andersson
    Makitie, O.
    Lindstrand, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 211 - 211
  • [9] Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants
    Serra-Juhe, Clara
    Martos-Moreno, Gabriel A.
    Bou de Pieri, Francesc
    Flores, Raquel
    Gonzalez, Juan R.
    Rodriguez-Santiago, Benjamin
    Argente, Jesus
    Perez-Jurado, Luis A.
    PLOS GENETICS, 2017, 13 (05):
  • [10] Large, rare chromosomal deletions associated with severe early-onset obesity
    Elena G. Bochukova
    Ni Huang
    Julia Keogh
    Elana Henning
    Carolin Purmann
    Kasia Blaszczyk
    Sadia Saeed
    Julian Hamilton-Shield
    Jill Clayton-Smith
    Stephen O’Rahilly
    Matthew E. Hurles
    I. Sadaf Farooqi
    Nature, 2010, 463 : 666 - 670