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：
HORMONE RESEARCH IN PAEDIATRICS | 2024年 / 97卷
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
  • [41] Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
    Ververi, Athina
    Zagaglia, Sara
    Menzies, Lara
    Baptista, Julia
    Caswell, Richard
    Baulac, Stephanie
    Ellard, Sian
    Lynch, Sally
    Jacques, Thomas S.
    Chawla, Maninder Singh
    Heier, Martin
    Kulseth, Mari Ann
    Mero, Inger-Lise
    Vatevik, Anne Katrine
    Kraoua, Ichraf
    Ben Rhouma, Hanene
    Ben Younes, Thouraya
    Miladi, Zouhour
    Turki, Ilhem Ben Youssef
    Jones, Wendy D.
    Clement, Emma
    Eltze, Christin
    Mankad, Kshitij
    Merve, Ashirwad
    Parker, Jennifer
    Hoskins, Bethan
    Pressler, Ronit
    Sudhakar, Sniya
    DeVile, Catherine
    Homfray, Tessa
    Kaliakatsos, Marios
    Ponnudas, Prabhakar
    Robinson, Robert
    Keim, Sara Margrete Boen
    Habibi, Imen
    Reymond, Alexandre
    Sisodiya, Sanjay M.
    Hurst, Jane A.
    HUMAN MOLECULAR GENETICS, 2023, 32 (04) : 580 - 594
  • [42] Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity
    Goldstone, Anthony P.
    Dominguez-Riscart, Jesus
    Umano, Giuseppina Rosaria
    Pinhas-Hamiel, Orit
    Yildiz, Melek
    Manco, Melania
    Sleiman, Patrick
    Savoie, Charles
    Giri, Dinesh
    Argente, Jesus
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 52 - 53
  • [43] Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy
    de Breuk, Anita
    Heesterbeek, Thomas J.
    Bakker, Bjorn
    Verzijden, Timo
    Lechanteur, Yara T. E.
    Klaver, Caroline C. W.
    den Hollander, Anneke, I
    Hoyng, Carel B.
    JAMA OPHTHALMOLOGY, 2021, 139 (11) : 1218 - 1226
  • [44] Recurrent early-onset severe obstetric cholestasis in a patient with two variants in the ABCB4 gene
    Khattak, Mohammad Fawad
    Thomson, Sam
    HEPATOLOGY FORUM, 2023, 4 (03): : 142 - 144
  • [45] Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
    Verheijen, Jan
    van der Zee, Julie
    Gijselinck, Ilse
    Van den Bossche, Tobi
    Dillen, Lubina
    Heeman, Bavo
    Gomez-Tortosa, Estrella
    Llado, Albert
    Sanchez-Valle, Raquel
    Graff, Caroline
    Pastor, Pau
    Pastor, Maria A.
    Benussi, Luisa
    Ghidoni, Roberta
    Binetti, Giuliano
    Clarimon, Jordi
    de Mendonca, Alexandre
    Gelpi, Ellen
    Tsolaki, Magda
    Diehl-Schmid, Janine
    Nacmias, Benedetta
    Almeida, Maria Rosario
    Borroni, Barbara
    Matej, Radoslav
    Ruiz, Agustin
    Engelborghs, Sebastiaan
    Vandenberghe, Rik
    De Deyn, Peter P.
    Cruts, Marc
    Van Broeckhoven, Christine
    Sleegers, Kristel
    NEUROBIOLOGY OF AGING, 2018, 62 : 245.e1 - 245.e7
  • [46] Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity
    Gray, J.
    Yeo, G.
    Hung, C.
    Keogh, J.
    Clayton, P.
    Banerjee, K.
    McAulay, A.
    O'Rahilly, S.
    Farooqi, I. S.
    INTERNATIONAL JOURNAL OF OBESITY, 2007, 31 (02) : 359 - 364
  • [47] Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity
    J Gray
    G Yeo
    C Hung
    J Keogh
    P Clayton
    K Banerjee
    A McAulay
    S O'Rahilly
    I S Farooqi
    International Journal of Obesity, 2007, 31 : 359 - 364
  • [48] Identification of Two Rare Homozygote Missense Variants in the IRS1 Gene in a Patient With Early Gestational Diabetes: A Case Study
    Mansour, Maab Babiker
    Inayat, Uzma
    Nada, Aml Mohamed
    Kacem, Hassen Hadj
    JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2022, 12 (06) : 188 - 197
  • [49] Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease
    Koenig, Sara N.
    Sucharski, Holly C.
    Jose, Elizabeth M.
    Dudley, Emma K.
    Madiai, Francesca
    Cavus, Omer
    Argall, Aaron D.
    Williams, Jordan L.
    Murphy, Nathaniel P.
    Keith, Caullin B. R.
    El Refaey, Mona
    Gumina, Richard J.
    Boudoulas, Konstantinos D.
    Milks, M. Wesley
    Sofowora, Gbemiga
    Smith, Sakima A.
    Hund, Thomas J.
    Wright, Nathan T.
    Bradley, Elisa A.
    Zareba, Karolina M.
    Wold, Loren E.
    Mazzaferri, Ernest L., Jr.
    Mohler, Peter J.
    CIRCULATION RESEARCH, 2021, 129 (02) : 296 - 307
  • [50] Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil
    Pinto, Renata Machado
    Pinto, Irene P.
    Rodovalho, Ricardo G.
    Silva, Lorena de O.
    Fukushima, Lorraine V. C.
    Moreira, Vanessa S.
    de Souza, Cristiane S. B.
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 456 - 456
12345