Results 101 to 110 of about 4,841 (226)

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. [PDF]

Brain, 2023
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I.   +81 more
europepmc   +1 more source

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre. [PDF]

Paediatr Child Health, 2023
Reddi R, Horvath GA.
europepmc   +1 more source

Glial cells in the heart: Implications for their roles in health and disease

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic representation of cardiac autonomic ganglia within epicardial fat pads (posterior heart surface shown), containing vagal postganglionic neuron cell bodies, associated fibres, and glia. These ganglia receive cholinergic input from vagal preganglionic neurons and adrenergic input from sympathetic postganglionic neurons ...
Svetlana Mastitskaya, Rimma Dugarova, Shefeeq M. Theparambil   +2 more
wiley   +1 more source

The causative role of amyloidosis in the cardiac complications of Alzheimer's disease: a comprehensive systematic review

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic illustration of the bidirectional causative link between cerebral amyloid‐beta (Aβ) angiopathy and cardiovascular disease in Alzheimer's disease (AD). Common cardiovascular risk factors like microvascular thrombosis, diabetes, atrial fibrillation, hypertension and atherosclerosis lead to cerebral hypoperfusion and ...
Samuel Parker, Andrew F. James, Svetlana Mastitskaya   +2 more
wiley   +1 more source

High-density genotyping reveals signatures of selection related to acclimation and economically important traits in 15 local sheep breeds from Russia

BMC Genomics, 2019
Background Domestication and centuries of selective breeding have changed genomes of sheep breeds to respond to environmental challenges and human needs.
Andrey A. Yurchenko, Tatiana E. Deniskova, Nikolay S. Yudin, Arsen V. Dotsev, Timur N. Khamiruev, Marina I. Selionova, Sergey V. Egorov, Henry Reyer, Klaus Wimmers, Gottfried Brem, Natalia A. Zinovieva, Denis M. Larkin   +11 more
doaj   +1 more source

Anestesia em paciente com insensibilidade congênita a dor e anidrose Anestesia en paciente con insensibilidad congénita al dolor y anhidrosis Anesthesia in a patient with congenital insensitivity to pain and anhidrosis

Revista Brasileira de Anestesiologia, 2009
JUSTIFICATIVA E OBJETIVOS: A insensibilidade congênita a dor e anidrose (ICDA) ou neuropatia hereditária sensorial e autonômica tipo IV (NHSA tipo IV) é neuropatia autossômica recessiva rara do grupo das neuropatias hereditárias sensoriais e autonômicas (
Carlos Rogério Degrandi Oliveira, Valter César Paris, Renato Augusto Pereira, Felipe Souza Thyrso de Lara   +3 more
doaj   +1 more source

Hereditary sensory and autonomic neuropathy type 4 [PDF]

, 2020
INSERM
openalex   +1 more source

A Spaetzle-like role for Nerve Growth Factor β 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.
Antrobus, R, Blunde, T, Brown, K, Bryant,, C, Cachat, J, Connolly, J, Floto, R. A., Foster, S.J., Grogono, D. M., Hammond, K.L., Hegyi, K, Hepburn, L, Holden, M, Kaser, A, Klapholz, C, Ligoxygakis, P, Loynes, C, Minichiello, L, Moreno, P, Ny, T, Ochoa, B, Ogryzko, N.V., Otto, M, Peacock, S. J., Prajsnar, T.K., Renshaw, S.A., Schiebler, M, Seneviratne, S. L., Surewaard, B, Török, M. E., Wang, L, Woods, C. G.   +31 more
core