نتائج البحث - "Hereditary sensory and autonomic neuropathy"

1

Novel genetic form of amyotrophic lateral sclerosis reveals metabolic mechanism and therapeutic target

المؤلفون: Florian P. Thomas, Carsten G. Bönnemann, Zoe Piccus, Aliza Zidell, Ana Lucila Moreira, Matthew Nalls, S. Neuhaus, Mark A. Tarnopolsky, Helio Pedro, Fernando Kok, Eric Mittelmann, Kenneth Gable, Lauren Brady, Chamindra G. Konersman, Teresa M. Dunn, Anne M. Connolly, Alessandro Introna, Katherine R. Chao, Robert H. Brown, Tracy Brandt, Sabine Specht, Thorsten Hornemann, Museer A. Lone, Alec R. Nickolls, Volker Straub, Andreas Roos, Ahmet Hoke, Giancarlo Logroscino, Chiara Fiorillo, Claire E. Le Pichon, Chia-Hsueh Lee, Cindy V. Ly, A. Reghan Foley, Dimah Saade, Megan T. Cho, Sita D. Gupta, Ying Hu, Payam Mohassel, Andrea Gangfuß, Heike Kölbel, Christopher Grunseich, Jonas Alex Morales Saute, Sandra Donkervoort, Ana Töpf, Ulrike Schara, Naemeh Pourshafie

المصدر: Nat Med
Nature Medicine
Web of Science

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Alleles, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, CRISPR-Cas Systems, Child, Female, Genes, Dominant, HEK293 Cells, Humans, Middle Aged, Mutation, Serine C-Palmitoyltransferase, Sphingolipids, Young Adult, Medizin, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Serine, Cellular and Molecular Neuroscience, 03 medical and health sciences, Text mining, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Dominant, SPTLC1, Allele, Amyotrophic lateral sclerosis, Genetics, business.industry, Mechanism (biology), Serine C-palmitoyltransferase, General Medicine, Motor neuron, medicine.disease, Sphingolipid, 030104 developmental biology, medicine.anatomical_structure, Genes, 030220 oncology & carcinogenesis, Neurology (clinical), business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3193b2001356b95896ddd8445463da1bTest
https://pubmed.ncbi.nlm.nih.gov/34059824Test

2

Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF

المؤلفون: Simona Capsoni, Giovanna Testa, Antonino Cattaneo

المساهمون: Testa, Giovanna, Cattaneo, Antonino, Capsoni, Simona

المصدر: Pharmacological research. 169

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Nociception, NTR, Pain, Socio-culturale, Disease, Tropomyosin receptor kinase A, medicine.disease_cause, Settore BIO/09 - Fisiologia, 03 medical and health sciences, 0302 clinical medicine, Nerve growth factor, Hereditary sensory and autonomic neuropathy, Nerve Growth Factor, Medicine, Animals, Humans, Hereditary Sensory and Autonomic Neuropathies, Protein Precursors, Pharmacology, Mutation, P75, biology, business.industry, TrkA, Pain Perception, medicine.disease, P75(NTR), Hereditary sensory and autonomic neuropathie, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, biology.protein, Congenital Pain Insensitivity, business, Neuroscience, Neurotrophin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab7ebe0ed35ec6a7a8724cef147408fTest
https://pubmed.ncbi.nlm.nih.gov/34000361Test

3

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity

المؤلفون: Hongnian Chen, Junhong Ma, Xin Xu, Zijun Lin, Yi Guo, Yuanyuan Chen, Yuanlin Ma, Min Yang, Xuefeng Wang, Xin Tian, Yida Hu

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d03c11bcbe5365eaccf23098f084a83Test
http://europepmc.org/articles/PMC7056823Test

4

Pain genetics

المؤلفون: William Renthal

مصطلحات موضوعية: business.industry, media_common.quotation_subject, Chronic pain, Sensory system, Stimulus (physiology), Gene mutation, medicine.disease, Perception, Hereditary sensory and autonomic neuropathy, medicine, Noxious stimulus, business, Neuroscience, Familial hemiplegic migraine, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ee65828474daf24c5b3a379d432137Test
https://doi.org/10.1016/b978-0-12-813866-3.00023-0Test

5

Swedish Nerve Growth Factor Mutation (NGFR100W) Defines a Role for TrkA and p75NTRin Nociception

المؤلفون: Kijung Sung, Wanlin Yang, William C. Mobley, Michael T. Maloney, Luiz F. Ferrari, Matthew L. Pearn, ChiHye Chung, Chengbiao Wu, Yingli Gu, Jon D. Levine, Bianxiao Cui, Kai Zhang, Xiaobei Zhao, Suzhen Lin

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 38, iss 14

مصطلحات موضوعية: Male, Nociception, 0301 basic medicine, sensory neuron, Tropomyosin receptor kinase A, Medical and Health Sciences, PC12 Cells, Rats, Sprague-Dawley, Mice, 0302 clinical medicine, Neurotrophic factors, Receptors, Nerve Growth Factor, Hereditary sensory and autonomic neuropathy, Hereditary Sensory and Autonomic Neuropathies, Receptor, Research Articles, Cells, Cultured, NGF, Cultured, TrkA, trophic, Chemistry, Growth Factor, General Neuroscience, Pain Research, 3T3 Cells, Cell biology, medicine.anatomical_structure, Neurological, Hyperalgesia, Chronic Pain, medicine.symptom, Signal transduction, Protein Binding, Signal Transduction, p75, Cells, Mutation, Missense, Nerve Tissue Proteins, Receptors, Nerve Growth Factor, Biology, 03 medical and health sciences, medicine, Animals, Humans, Receptors, Growth Factor, Receptor, trkA, Peripheral Neuropathy, Neurology & Neurosurgery, Psychology and Cognitive Sciences, Wild type, Neurosciences, medicine.disease, Sensory neuron, Rats, HEK293 Cells, 030104 developmental biology, Nerve growth factor, nervous system, Mutation, Sprague-Dawley, Missense, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cccb38002beb168e3299036c766c3a3Test
https://doi.org/10.1523/jneurosci.1686-17.2018Test

6

Animal and cellular models of familial dysautonomia

المؤلفون: Frances Lefcort, Yumi Ueki, Lynn George, Sarah B. Ohlen, Marc Mergy

المصدر: Clin Auton Res

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234071500e677d8c97e52d3aadc21c8Test
https://doi.org/10.1007/s10286-017-0438-2Test

7

A congenital pain insensitivity mutation in the nerve growth factor gene uncouples nociception from affective pain in heterozygous humans and mice

المؤلفون: Chiara Morelli, Simona Capsoni, Antonino Cattaneo, Mario Costa, Rita Florio, Francesca Malerba, Marco Mainardi, Carla Petrella, Laura Pancrazi, Cinzia Severini, India Morrison, Francesco Olimpico, Irene Perini, Giovanna Testa, Paul A. Heppenstall

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98a5cb9899b4e15e66daaf647cc9385Test

8

Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts

المؤلفون: Wardiya Afshar Saber, Amy J. Wang, Lee L. Rubin, Kush Kapur, Christian Brenneis, Clifford J. Woolf, Kevin Eggan, Lee Barrett, Júlia Teixeira Oliveira, Seungkyu Lee, Canan Bilgin, Naomi Tsujimoto, Cassidy Mellin, Isaac M. Chiu, Justin K. Ichida, Elizabeth D. Buttermore, Eric A. Huebner, Brian J. Wainger

المصدر: Nature neuroscience

مصطلحات موضوعية: Male, Sensory Receptor Cells, Cell, Models, Neurological, TRPV1, Pain, Mice, Transgenic, Cell fate determination, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Dysautonomia, Familial, Animals, Humans, 030304 developmental biology, Inflammation, Mice, Knockout, 0303 health sciences, General Neuroscience, Nociceptors, Peripheral Nervous System Diseases, Fibroblasts, medicine.disease, 3. Good health, Electrophysiological Phenomena, Mice, Inbred C57BL, medicine.anatomical_structure, nervous system, Familial dysautonomia, Nociceptor, Neuroscience, Reprogramming, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a65884bbd8801206e073cfea1a5b3aTest
http://europepmc.org/articles/PMC4429606Test

9

Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice

المؤلفون: Kensuke Yamamura, Masao Horie, Masayuki Kurose, M. Ibrahim Hossain, Hirohide Takebayashi, Nozomu Yoshioka

المصدر: Neurochemistry international. 119

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::081648aa2d1d5f2d9b44a311163dddccTest
https://pubmed.ncbi.nlm.nih.gov/29061384Test

10

BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia

المؤلفون: Magdalena L. Russell, Michael J. Brownstein, Frances Lefcort, Sarah B. Ohlen

مصطلحات موضوعية: 0301 basic medicine, Mitochondrion, Biology, 03 medical and health sciences, Mice, 0302 clinical medicine, Piperidines, Ganglia, Spinal, Hereditary sensory and autonomic neuropathy, Oximes, medicine, OMIM : Online Mendelian Inheritance in Man, Dysautonomia, Familial, Animals, Humans, Amyotrophic lateral sclerosis, Multidisciplinary, IKBKAP, Cell Death, Intracellular Signaling Peptides and Proteins, Dysautonomia, Biological Sciences, medicine.disease, Axons, Mice, Mutant Strains, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Familial dysautonomia, Peripheral nervous system, medicine.symptom, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405a9222adebb1170141afdfd6a2e91dTest
https://europepmc.org/articles/PMC5441694Test/

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