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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Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update
J Gambardella, A Lombardi, MB Morelli, J Ferrara, G Santulli |
Journal of Clinical Medicine | 2020 |
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases
R Silva-Rojas, J Laporte, J Böhm |
Frontiers in physiology | 2020 |
Type 3 inositol 1,4,5-trisphosphate receptor: A calcium channel for all seasons
A Mangla, MT Guerra, MH Nathanson |
Cell Calcium | 2020 |
Global Warming, Heat Related Illnesses and the Dermatologist
ML Williams |
International Journal of Women's Dermatology | 2020 |
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function
LE Terry, KJ Alzayady, AM Wahl, S Malik, DI Yule |
The Journal of biological chemistry | 2020 |