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Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.
Gray J, Yeo GS, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YC, Hodges JR, Raymond FL, O'rahilly S, Farooqi IS. Gray J, et al. Among authors: cox jj. Diabetes. 2006 Dec;55(12):3366-71. doi: 10.2337/db06-0550. Diabetes. 2006. PMID: 17130481 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: cox jj. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Molecular basis of FAAH-OUT-associated human pain insensitivity.
Mikaeili H, Habib AM, Yeung CW, Santana-Varela S, Luiz AP, Panteleeva K, Zuberi S, Athanasiou-Fragkouli A, Houlden H, Wood JN, Okorokov AL, Cox JJ. Mikaeili H, et al. Among authors: cox jj. Brain. 2023 Sep 1;146(9):3851-3865. doi: 10.1093/brain/awad098. Brain. 2023. PMID: 37222214 Free PMC article.
Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.
Jami S, Deuis JR, Klasfauseweh T, Cheng X, Kurdyukov S, Chung F, Okorokov AL, Li S, Zhang J, Cristofori-Armstrong B, Israel MR, Ju RJ, Robinson SD, Zhao P, Ragnarsson L, Andersson Å, Tran P, Schendel V, McMahon KL, Tran HNT, Chin YK, Zhu Y, Liu J, Crawford T, Purushothamvasan S, Habib AM, Andersson DA, Rash LD, Wood JN, Zhao J, Stehbens SJ, Mobli M, Leffler A, Jiang D, Cox JJ, Waxman SG, Dib-Hajj SD, Neely GG, Durek T, Vetter I. Jami S, et al. Among authors: cox jj. Nat Commun. 2023 Apr 28;14(1):2442. doi: 10.1038/s41467-023-37963-2. Nat Commun. 2023. PMID: 37117223 Free PMC article.
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: cox jj. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
79 results