Results 31 to 40 of about 5,744 (198)

Severe heart disease in an unusual case of familial amyloid polyneuropathy type I

Revista Portuguesa de Cardiologia, 2013
Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity.
Miguel Oliveira Santos, Dulce Brito
doaj   +1 more source

Partial pharmacologic blockade shows sympathetic connection between blood pressure and cerebral blood flow velocity fluctuations [PDF]

, 2016
Cerebral autoregulation (CA) dampens transfer of blood pressure (BP)-fluctuations onto cerebral blood flow velocity (CBFV). Thus, CBFV-oscillations precede BP-oscillations.
Hauck, P, Hilz, MJ, Hösl, KM, Köhrmann, M, Liu, M, Marthol, H, Riss, S, Stemper, B, Tillmann, A, Wang, R, Wasmeier, G   +10 more
core   +1 more source

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Scientific Reports, 2023
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene.
Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort   +14 more
doaj   +1 more source

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Biology Open, 2021
Elongator dysfunction is increasingly recognized as a contributor to multiple neurodevelopmental and neurodegenerative disorders including familial dysautonomia, intellectual disability, amyotrophic lateral sclerosis, and autism spectrum disorder ...
BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle, Agarwal, Agrawal, Aladin, Anderson, Andersson, Annunen, Arnold, Ashford, Atkinson, Bandell, Battie, Battie, Bautista, Bejaoui, Berthele, Beyer, Blau, Bond, Brown, Brown, Brown, Campa, Caraco, Carbonell Sala, Carragee, Cascorbi, Cho, Chou, Chou, Cipollone, Collart, Cox, Dalen, Daly, Dawkins, Dayer, Dayer, Diatchenko, Diatchenko, Diatchenko, Dick, Doehring, Eckhardt, Einarsdottir, Fillingim, Foulkes, Fu, Gasche, Goldberg, Grant, Gross, Gursoy, Gutierrez-Roelens, Hamdani, Hartvigsen, Hayashida, Hernandez, Higashino, Hirose, Hoyland, Hummel, Hustmyer, Ikeda, Indo, Irmgard Tegeder, Jayamanne, Jim, Jörn Lötsch, Kales, Kalichman, Karppinen, Karsak, Kawaguchi, Kawaguchi, Kawasaki, Khoromi, Kim, Kim, Kim, Kim, Kirchheiner, Kirchheiner, Klepstad, Knoeringer, Kroslak, Kuisma, Kung, Lafreniere, Landau, Langdahl, Le Maitre, Lee, Lettre, Leyne, Lichtman, Liem, Lorenzo, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lovlie, Lu, Luoma, Lötsch, MacDonald, Macpherson, Madadi, Manning, McNamara, Meeus, Meller, Meller, Mignat, Mio, Miura, Mogil, Mogil, Morrison, Nguyen, Noponen-Hietala, Noponen-Hietala, Oakley, Oertel, Oertel, Oertel, Ofek, Ohtori, Oliveira, Paassilta, Papafili, Pilotto, Pluijm, Poulsen, Racz, Racz, Rakvag, Ralston, Ralston, Reyes-Gibby, Richards, Riviere, Roddier, Romberg, Russo, Sachse, Sakai, Schmidt, Schneider, Seki, Seki, Sindrup, Sipe, Skarke, Skarke, Slade, Slaugenhaupt, Solovieva, Solovieva, Solovieva, Solovieva, Solovieva, Srinivasan, Srinivasan, Stamer, Stamer, Steward, Stohler, Suzuki, Svendsen, Tadic, Takahashi, Tam, Tander, Tegeder, Tegeder, Thieme, Thomas, Trevisani, Uitterlinden, Ujike, van Meurs, Vargas-Alarcon, Verhoeven, Videman, Videman, Virtanen, Voronov, Vree, Wiesinger, Yamada, Yazdanpanah, Zhang, Zhang, Zhang, Zhang, Zubieta, Zuo   +200 more
core   +1 more source

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

Journal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro   +4 more
doaj   +1 more source

Eosinophilic ulcer of the tongue - Case report. [PDF]

, 2015
Eosinophilic ulcer of the oral mucosa is a rare, self-limiting, chronic and benign lesion of unknown pathogenesis that affects the oral mucosa. We present the case of a 65 year-old Caucasian female with a fivemonth history of a painful ulcer on the ...
Calvieri, Stefano, Didona, B, Didona, D, Donati, M, Paolino, Giovanni   +4 more
core   +2 more sources

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons. [PDF]

PLoS ONE, 2014
A splicing mutation in the ikbkap gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Anastasia Abashidze, Veronica Gold, Yaron Anavi, Hayit Greenspan, Miguel Weil   +4 more
doaj   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia. [PDF]

PLoS ONE, 2010
BACKGROUND: Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20.
Nathalie Boone, Béatrice Loriod, Aurélie Bergon, Oualid Sbai, Christine Formisano-Tréziny, Jean Gabert, Michel Khrestchatisky, Catherine Nguyen, François Féron, Felicia B Axelrod, El Chérif Ibrahim   +10 more
doaj   +1 more source