There are 3 major sweat-producing glands present in skin; eccrine, apocrine, and apoeccrine glands. Due to the high rate of secretion, eccrine sweating is a vital regulator of body temperature in response to thermal stress in humans; therefore, an inability to sweat (anhidrosis) results in heat intolerance that may cause impaired consciousness and death. Here, we have reported 5 members of a consanguineous family with generalized, isolated anhidrosis, but morphologically normal eccrine sweat glands. Whole-genome analysis identified the presence of a homozygous missense mutation in
Joakim Klar, Chihiro Hisatsune, Shahid M. Baig, Muhammad Tariq, Anna C.V. Johansson, Mahmood Rasool, Naveed Altaf Malik, Adam Ameur, Kotomi Sugiura, Lars Feuk, Katsuhiko Mikoshiba, Niklas Dahl
Title and authors | Publication | Year |
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Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function
Axel Concepcion, Martin Vaeth, Larry Wagner, Miriam Eckstein, Lee Hecht, Jun Yang, David Crottes, Maximilian Seidl, Hyosup Shin, Carl Weidinger, Scott Cameron, Stuart E. Turvey, Thomas B. Issekutz, isabelle Meyts, Rodrigo Lacruz, Mario Ćuk, David Yule, Stefan Feske |
Journal of Clinical Investigation | 2016 |
Ca 2+ transport and signalling in enamel cells: Calcium in enamel cells
MK Nurbaeva, M Eckstein, S Feske, RS Lacruz |
The Journal of Physiology | 2016 |
Cardiac inositol 1,4,5-trisphosphate receptors
MI Garcia, D Boehning |
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | 2016 |
Regulation of epithelial ion transport in exocrine glands by store-operated Ca2+ entry
AR Concepcion, S Feske |
Cell Calcium | 2016 |
Defining the stoichiometry of inositol 1,4,5-trisphosphate binding required to initiate Ca2+ release
KJ Alzayady, L Wang, R Chandrasekhar, LE Wagner, FV Petegem, DI Yule |
Science signaling | 2016 |
Genetic ablation of IP 3 receptor 2 increases cytokines and decreases survival of SOD1 G93A mice
KA Staats, S Humblet-Baron, A Bento-Abreu, W Scheveneels, A Nikolaou, K Deckers, R Lemmens, A Goris, JA van Ginderachter, PV Damme, C Hisatsune, K Mikoshiba, A Liston, W Robberecht, LV Bosch |
Human Molecular Genetics | 2016 |
K + channel mechanisms underlying cholinergic cutaneous vasodilation and sweating in young humans: roles of K Ca , K ATP , and K V channels?
N Fujii, JC Louie, BD McNeely, SY Zhang, MA Tran, GP Kenny |
American Journal of Physiology - Regulatory, Integrative and Comparative Physiology | 2016 |