Results 51 to 60 of about 4,617 (234)

A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. [PDF]

PLoS Genetics, 2016
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies.
Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André   +20 more
doaj   +1 more source

TEAD1 Enhances Exosome Secretion and Promotes Exosome‐Mediated Tissue Regeneration

Advanced Science, EarlyView.
TEAD1 functions as a crucial molecular switch regulating exosome secretion in various cell types. TEAD1 enhances exosome secretion by upregulating key proteins associated with exosome secretion, including RAB11, CD9, and SNAP23. This study reveals a novel role for TEAD1 in regulating exosome secretion and tissue regeneration, particularly in diabetic ...
Yan Pu, Yi Wan, Wenhao Shi, Bin Li, Haiyue Zhang, Jun Wu, Lingling Li, Wenjia Guo, Chen Ding, Wenjun Yang   +9 more
wiley   +1 more source

Familial Dysautonomia: Mechanisms and Models

Genetics and Molecular Biology
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj   +3 more sources

Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report [PDF]

, 2016
How to Cite This Article: Azadvari M, Emami Razavi SZ, Kazemi Sh. Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. Iran J Child Neurol.
AZADVARI, Mohaddeseh, EMAMI RAZAVI, Seyedeh Zahra, KAZEMI, Shahrbanoo   +2 more
core   +2 more sources

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

A Spaetzle-like role for nerve growth factor beta in vertebrate immunity to Staphylococcus aureus [PDF]

, 2014
Many key components of innate immunity to infection are shared between Drosophila and humans. However, the fly Toll ligand Spaetzle is not thought to have a vertebrate equivalent.
A. Kaser, Addis, Aloe, Aranda, Ashburner, B. Ochoa, B. Surewaard, Belvin, Bischoff, C. A. Loynes, C. Bryant, C. G. Woods, C. Klapholz, Carnesecchi, Chamy, Chen, Cohen, D. M. Grogono, de Tayrac, Floto, Floto, Guo, G  mez, Hoffmann, Howe, J. Cachat, J. Connolly, K. Brown, K. Hegyi, K. L. Hammond, Kwan, L. Hepburn, L. Minichiello, L. Wang, Lemaitre, Lowy, M. E. Torok, M. Holden, M. Otto, M. Schiebler, Mizuguchi, Murzin, N. V. Ogryzko, Needham, Novick, Otten, P. Ligoxygakis, P. Moreno, Paradis, Peschon, Prajsnar, Prajsnar, R. A. Floto, R. Antrobus, Renna, Rice, Rigby, Rotthier, S. A. Renshaw, S. J. Foster, S. J. Peacock, S. L. Seneviratne, Seidah, Shi, Sofroniew, Stuart, Surewaard, T. Blundell, T. K. Prajsnar, T. Ny, Thwaites, Valanne, Vitt, Weber, Wu, Zhu   +75 more
core   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

BMC Medical Genetics, 2019
Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics.
James Jiqi Wang, Bo Yu, Zongzhe Li
doaj   +1 more source

Bilirubin as a Modulator of WNK1 Protein Signaling: Implications for Neuroinflammatory Diseases

Advanced Science, EarlyView.
ABSTRACT Previously regarded merely as a potentially harmful waste product of heme catabolism, bilirubin has now emerged as a pleiotropic molecule with potent antioxidant, anti‐inflammatory, and hormone‐like properties. Recent findings have revealed protective effects against cardiovascular, metabolic, autoimmune, and neoplastic diseases, as well as ...
Sri Jayanti, Libor Vítek, Silvia Gazzin, Claudio Tiribelli   +3 more
wiley   +1 more source

Hereditary sensory autonomic neuropathy and anaesthesia - a case report

Indian Journal of Anaesthesia, 2007
The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves.
Nandini Dave, Anil Sonawane, Sachin Chandolkar   +2 more
doaj