Results 71 to 80 of about 8,099 (218)

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release. [PDF]

, 2016
Human genetic studies show that the voltage gated sodium channel 1.7 (Nav1.7) is a key molecular determinant of pain sensation. However, defining the Nav1.7 contribution to nociceptive signalling has been hampered by a lack of selective inhibitors.
Alexandrou, AJ, Brown, AR, Butt, RP, Castle, NA, Chapman, ML, Cox, PJ, Dib-Hajj, SD, Doyle, R, Estacion, M, Gutteridge, A, Hounshell, JA, Krafte, D, Lin, Z, Marron, BE, Mis, MA, Patel, MK, Payne, EC, Printzenhoff, D, Randall, A, Rivara, M, Stevens, EB, Storer, RI, Stupple, PA, Swain, NA, Turner, J, Waxman, SG, West, C, Wilbrey, A   +27 more
core   +1 more source

Autosplenectomy in a Patient With Autoimmune Polyglandular Syndrome Type 2 (APS‐2)

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Autoimmune glandular syndrome type 2 is a complex genetic condition where a triad of endocrinopathies is involved, namely, Addison’s disease, type 1 diabetes, and/or autoimmune thyroid disorder. The disease predisposes one to a variety of other autoimmune associations.
Luqman S. Fauzi, Airin Jyoty, Yashwin Sredharan, Manohara Kenchaiah, Osamu Isozaki   +4 more
wiley   +1 more source

Clinical progress note: Varicella Zoster

Journal of Hospital Medicine, Volume 20, Issue 12, Page 1348-1350, December 2025.
Abstract Varicella Zoster virus (VZV) is the etiologic agent responsible for varicella and herpes zoster (shingles). Nonimmune children and adults acutely infected with VZV typically experience a vesicular and pruritic rash that progresses from the face and trunk and generalizes to the extremities, accompanied by an oral enanthem along with symptoms of
Sirey Zhang, Adam L. Hersh, T. W. Jones
wiley   +1 more source

Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management

Case Reports in Dentistry, 2015
This paper reports the case of a 4-year-old male patient who was brought by parents requesting for replacement of multiple missing anterior teeth. The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown
N. Abdullah, Kausar Sadia Fakhruddin, A. R. Samsudin   +2 more
doaj   +1 more source

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael, Romance García, Ana, Romero Maroto, Martín, Simón de las Heras, Rogelio   +3 more
core  

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources

Congenital insensitivity to pain with anhidrosis [PDF]

International Orthopaedics, 1998
PubMedID ...
Herdem M., Polat S., Özbarlas S., Onaç E.   +3 more
openaire   +1 more source

Regenerating the Senses: Stem Cell‐Derived Sensory Neurons and Functional Genomics in Neurological Disorders

Sensory Neuroscience, Volume 1, Issue 3, December 2025.
ABSTRACT Sensory neuron disorders, such as peripheral neuropathies and trigeminal neuralgia, cause chronic pain and sensory dysfunction; however, regenerative treatments are limited. Human pluripotent stem cells (hPSCs) provide a powerful platform to model these diseases by generating functional sensory neuron subtypes, including nociceptors and ...
Pushpanathan Muthuirulan, Avanthika Nityanand, Anjali Pandit, Vaishnavi Gururajan   +3 more
wiley   +1 more source

Antimicrobial prescribing guidelines for horses in Australia

Australian Veterinary Journal, Volume 103, Issue 12, Page 781-889, December 2025.
The growing problem of antimicrobial resistance also affects equine veterinarians with increasing frequency. Antimicrobial stewardship and responsible prescribing are essential for a future in which effective antimicrobials are available, as it is unlikely that new antimicrobials will become available for use in horses.
L Hardefeldt, K Thomas, S Page, J Norris, G Browning, C El Hage, A Stewart, J Gilkerson, G Muscatello, D Verwilghen, G van Galen, J Bauquier, R Cuming, B Reynolds, C Whittaker, E Wilkes, J Clulow, C Burden, L Begg   +18 more
wiley   +1 more source

Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels

Nature Communications, 2020
Loss of function of Nav1.7 leads to congenital insensitivity to pain in humans. Here the authors found that activation of Nav1.9 can restore nociception in Nav1.7 knockout mice, revealed by a venom-derived peptide as a probe.
Xi Zhou, Tingbin Ma, Luyao Yang, Shuijiao Peng, Lulu Li, Zhouquan Wang, Zhen Xiao, Qingfeng Zhang, Li Wang, Yazhou Huang, Minzhi Chen, Songping Liang, Xianwei Zhang, Jing Yu Liu, Zhonghua Liu   +14 more
doaj   +1 more source