Results 41 to 50 of about 5,298 (208)

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiology of Disease, 2006
Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected.
Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman   +2 more
doaj   +1 more source

Using weighted hospital service area networks to explore variation in preventable hospitalization [PDF]

, 2017
Objective: To demonstrate the use of multiple-membership multilevel models, which analytically structure patients in a weighted network of hospitals, for exploring between-hospital variation in preventable hospitalizations. Data Sources: Cohort of
Falster, Michael O., Jorm, Louisa R., Leyland, Alastair H.   +2 more
core   +1 more source

Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy

Neurobiology of Disease, 2021
Mutations in the ER-network forming GTPase atlastin3 (ATL3) can cause axon degeneration of sensory neurons by not fully understood mechanisms. We here show that the hereditary sensory and autonomous neuropathy (HSAN)-causing ATL3 Y192C or P338R are ...
Laura Behrendt, Christian Hoischen, Christoph Kaether   +2 more
doaj   +1 more source

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

eLife, 2022
Dystonin (DST), which encodes cytoskeletal linker proteins, expresses three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e.
Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi   +10 more
doaj   +1 more source

Determinants of Credit Ratings and Comparison of the Rating Prediction Performances of Machine Learning Algorithms [PDF]

E3S Web of Conferences, 2023
In the literature, new machine learning algorithms are dynamically produced in the field of artificial intelligence engineering and the algorithms are constantly updated with new parameter estimations.
Çetin Ali I˙hsan, Ahmed Syed Ejaz
doaj   +1 more source

Targeted Mutation (R100W) of the Gene Encoding NGF Leads to Deficits in the Peripheral Sensory Nervous System

Frontiers in Aging Neuroscience, 2018
Nerve growth factor (NGF) exerts multifaceted functions through different stages of life. A missense mutation (R100W) in the beta-NGF gene was found in hereditary sensory autonomic neuropathy V (HSAN V) patients with severe loss of pain perception but ...
Wanlin Yang, Kijung Sung, Fengli Zhou, Wei Xu, Robert A. Rissman, Robert A. Rissman, Jianqing Ding, Chengbiao Wu, Chengbiao Wu   +8 more
doaj   +1 more source

Scans for signatures of selection in Russian cattle breed genomes reveal new candidate genes for environmental adaptation and acclimation [PDF]

, 2018
Domestication and selective breeding has resulted in over 1000 extant cattle breeds. Many of these breeds do not excel in important traits but are adapted to local environments.
A Talenti, A Yurchenko, A Zrhidri, AGT Pereira, AK Lindholm-Perry, AR Boyko, AS Wilkins, B Cannon, B Dorshorst, B Grisart, B Haase, B Loureiro, B Loureiro, B Loureiro, BG Oliver, BS Weir, CB Kaelin, D Boruszewska, D Wright, D Yang, DR Schrider, EA Ostrander, EM Ibeagha-Awemu, F Li, F Schlamp, F Tajima, FB Axelrod, G Valverde, H Li, H Li, H Mannen, H Pausch, H Yamada, H Zhang, HD Daetwyler, HD Daetwyler, HP Jedema, I Kurth, I Mathieson, I Naka, I Urbinati, J Kim, J Martin-Tereso, J Queiros, JD Jensen, JD Storey, JE Decker, JJ Simoni Gouveia de, JK Pickrell, K Kim, K Konczol, K Soini, K Wimmers, KC Wollenberg Valero, KE Lotterhos, L Ma, LA Raven, M Cohen-Zinder, M Knoll, M Nei, M Nizon, M Saatchi, MI Fariello, MJ Emmett, MN Weedon, MR Upadhyay, MRS Fortes, NA Mandal, O Delaneau, O Tange, P Danecek, P Scheet, Q Qiu, QL Meng, R Verity, R Weikard, R Xiang, RL Minster, RR Mota, S Boitard, S Bolormaa, S Bongiorni, S Fan, S Makvandi-Nejad, S Moon, S Purcell, S Roth, S Roy, S Sasaki, S Wu, SD Berry, SH Carroll, SJ Yue, SR Grossman, T Iso-Touru, T Nishimaki, TY Yeh, W Barendse, X Zheng, X Zheng, XL Wang, Y Gao, Y Gao, Y Liu, Y Ma, Y Qin, Y Wang, YT Utsunomiya, Z Gu   +108 more
core   +5 more sources

Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity.

PLoS ONE, 2011
During adulthood, the neurotrophin Nerve Growth Factor (NGF) sensitizes nociceptors, thereby increasing the response to noxious stimuli. The relationship between NGF and pain is supported by genetic evidence: mutations in the NGF TrkA receptor in ...
Simona Capsoni, Sonia Covaceuszach, Sara Marinelli, Marcello Ceci, Antonietta Bernardo, Luisa Minghetti, Gabriele Ugolini, Flaminia Pavone, Antonino Cattaneo   +8 more
doaj   +1 more source

The semantic study of the term "ihsan" based on its field of meaning in personal domain [PDF]

تحقیقات علوم قرآن و حدیث, 2010
The term 'ihsan' , in addition to the commonly used application as beneficience and kindness, relates to the quality of the deed and how it is carried out i.e. performing the action in a good manner.
Mohammad Mustafayi, Nahla Gharavi Na'ini   +1 more
doaj   +1 more source