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
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IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
Hytönen MK, Rönkkö J, Hundi S, Jokinen TS, Suonto E, Teräväinen E, Donner J, La Rovere R, Bultynck G, Ylikallio E, Tyynismaa H, Lohi H |
PLOS Genetics | 2025 |
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
Rossignol F, Lamari F, Mitchell GA |
Journal of Inherited Metabolic Disease | 2025 |
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Atakpa-Adaji P, Ivanova A |
2023 | |
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Baker MR, Fan G, Arige V, Yule DI, Serysheva II |
Cell Calcium | 2023 |
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Parveen A, Abbas S, Mehmood N, Patafi MA, Wajid U, Luqman M, Arshad S |
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J Li, Y Wang |
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Cellular & molecular immunology | 2022 |
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Terry LE, Arige V, Neumann J, Wahl AM, Knebel TR, Chaffer JW, Malik S, Liston A, Humblet-Baron S, Bultynck G, Yule DI |
iScience | 2022 |
外泌汗腺汗液分泌离子通道调控机制研究进展
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Zhonghua Shaoshang yu Chuangmian Xiufu Zazhi | 2022 |
The protease corin regulates electrolyte homeostasis in eccrine sweat glands
M He, T Zhou, Y Niu, W Feng, X Gu, W Xu, S Zhang, Z Wang, Y Zhang, C Wang, L Dong, M Liu, N Dong, Q Wu, CW Lo |
PLoS Biology | 2021 |
CREB regulates the expression of type 1 inositol 1,4,5-trisphosphate receptors
V Arige, LE Terry, S Malik, TR Knebel, LE Wagner, DI Yule |
Journal of cell science | 2021 |
Compounds from plantar foot sweat, nesting material, and urine show strain patterns associated with agonistic and affiliative behaviors in group housed male mice, Mus musculus
AJ Barabas, HA Soini, MV Novotny, DR Williams, JA Desmond, JR Lucas, MA Erasmus, HW Cheng, BN Gaskill, I Branchi |
PloS one | 2021 |
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
I Järvelä, T Määttä, A Acharya, J Leppälä, SN Jhangiani, M Arvio, A Siren, M Kankuri-Tammilehto, H Kokkonen, M Palomäki, T Varilo, M Fang, TD Hadley, A Jolly, T Linnankivi, R Paetau, A Saarela, R Kälviäinen, J Olme, LM Nouel-Saied, DM Cornejo-Sanchez, L Llaci, JR Lupski, JE Posey, SM Leal, I Schrauwen |
Human Genetics | 2021 |
Astrocytic IP3Rs: Beyond IP3R2
MW Sherwood, M Arizono, A Panatier, K Mikoshiba, SH Oliet |
Frontiers in cellular neuroscience | 2021 |
In the Right Place at the Right Time: Regulation of Cell Metabolism by IP3R-Mediated Inter-Organelle Ca2+ Fluxes
U Ahumada-Castro, G Bustos, E Silva-Pavez, A Puebla-Huerta, A Lovy, C Cárdenas |
Frontiers in Cell and Developmental Biology | 2021 |
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EK Cheruiyot, M Haile-Mariam, BG Cocks, IM MacLeod, R Xiang, JE Pryce |
Scientific Reports | 2021 |
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 |
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B Yao, J Xie, N Liu, T Hu, W Song, S Huang, X Fu |
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A Sigdel, R Abdollahi-Arpanahi, I Aguilar, F Peñagaricano |
Frontiers in Genetics | 2019 |
STIM1, but not STIM2, Is the Calcium Sensor Critical for Sweat Secretion
CY Cui, JH Noh, M Michel, M Gorospe, D Schlessinger |
Journal of Investigative Dermatology | 2018 |
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Neuropeptide PACAP promotes sweat secretion
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A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
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European Journal of Human Genetics | 2017 |
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
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PLoS genetics | 2017 |
Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function
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