Results 21 to 30 of about 10,587 (266)

Sensory-motor circuit is a therapeutic target for <i>dystonia musculorum</i> mice, a model of hereditary sensory and autonomic neuropathy 6. [PDF]

Sci Adv
Mutations in Dystonin (DST), which encodes cytoskeletal linker proteins, cause hereditary sensory and autonomic neuropathy 6 (HSAN-VI) in humans and the dystonia musculorum (dt) phenotype in mice; however, the neuronal circuit underlying the HSAN-VI and ...
Yoshioka N, Kurose M, Sano H, Tran DM, Chiken S, Tainaka K, Yamamura K, Kobayashi K, Nambu A, Takebayashi H.   +9 more
europepmc   +2 more sources

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. [PDF]

J Anat, 2022
Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients.
Hines TJ, Tadenev ALD, Lone MA, Hatton CL, Bagasrawala I, Stum MG, Miers KE, Hornemann T, Burgess RW.   +8 more
europepmc   +2 more sources

Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management. [PDF]

Indian J Orthop, 2022
Kamath SU, Krishnamurthy SL, Annappa R.
europepmc   +2 more sources

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII. [PDF]

Arch Iran Med
Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the ...
Ebrahimi AH, Bolhassani M, Zarei MR, Heidari M, ArdeshirDavani A, Mehrtash AH, Shiri Z, Heidari M, Soleyman-Nejad M, Taskhiri MH, Norouzbeigi A, Heidari M.   +11 more
europepmc   +2 more sources

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant. [PDF]

J Vet Intern Med, 2021
Background Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 in Border Collies and 1 in Spaniels and Pointers.
Gutierrez-Quintana R, Mellersh C, Wessmann A, Ortega M, Penderis J, Sharpe S, Freeman E, Stevenson L, Burmeister L.   +8 more
europepmc   +2 more sources

Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report. [PDF]

Medicine (Baltimore)
Rationale: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP).
Xu Q, Wang Y, Zhou Y, Zhang L, Xiang X, Xie Y, Lu J, Li L, Zhu Y, Zhang Z, Zhang T, Li L.   +11 more
europepmc   +2 more sources

Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis

Indian Journal of Paediatric Dermatology, 2021
Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +1 more source

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV

Saudi Journal of Anaesthesia, 2011
Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation.
Ergül Yakup, Ekici Baris, Keskin Sabiha   +2 more
doaj   +3 more sources

Glycogen synthase kinase 3ß functions as a positive effector in the WNK signaling pathway. [PDF]

PLoS ONE, 2018
The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A.
Atsushi Sato, Hiroshi Shibuya
doaj   +1 more source

A rare case of congenital corneal anesthesia

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore   +4 more
doaj   +1 more source