Results 51 to 60 of about 5,298 (208)

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self-Injury Complications in a 5-Year-Old Boy: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical.
Amin Z, Saeed H, Naufil SI, Saba S, Imtiaz A, Akhlaq SH, Ahmad MH, Ali M.   +7 more
europepmc   +2 more sources

Group size estimation for hybrid satellite/terrestrial reliable multicast [PDF]

, 2004
This paper addresses the problem of group size estimation for hybrid satellite/terrestrial multipoint communications. Estimators based on the maximum likelihood principle are investigated.
Dairaine, Laurent, De Belleville, Florestan, Fraboul, Christian, Tourneret, Jean-Yves   +3 more
core   +2 more sources

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

The NGF R100W Mutation, Associated with Hereditary Sensory Autonomic Neuropathy Type V, Specifically Affects the Binding Energetic Landscapes of NGF and of Its Precursor proNGF and p75NTR

Biology, 2023
Nerve Growth Factor (NGF), the prototype of the neurotrophin family, stimulates morphological differentiation and regulates neuronal gene expression by binding to TrkA and p75NTR receptors.
Sonia Covaceuszach, Doriano Lamba
doaj   +1 more source

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

Frontiers in Genetics, 2019
Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due
Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo   +4 more
doaj   +1 more source

Burmese Buddhist Imagery of the Early Bagan Period (1044-1113) [PDF]

, 2006
Buddhism is an integral part of Burmese culture. While Buddhism has been practiced in Burma for around 1500 years and evidence of the religion is found throughout the country, nothing surpasses the concentration of Buddhist monuments found at Bagan ...
Galloway, Charlotte Kendrick
core   +1 more source

Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering [PDF]

, 2017
The endoplasmic reticulum (ER) is a complex network of sheets and tubules that is continuously remodeled. The relevance of this membrane dynamics is underscored by the fact that mutations in atlastins (ATLs), the ER fusion proteins in mammals, cause ...
Almeida-Souza, Leonardo, Asselbergh, Bob, De Rycke, Riet, De Winter, Vicky, Detry, Sammy, Janssens, Sophie, Kremer, Anna, Krols, Michiel, Kurth, Ingo, Lippens, Saskia, McMahon, Harvey T, Müller, Franz-Josef, Savvides, Savvas, Timmerman, Vincent   +13 more
core   +2 more sources

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

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey. [PDF]

Mol Genet Genomic Med
Extensive joint destruction from the patient with compound heterozygous variants in the NTRK1 gene with diagnosis of congenital insensitivity to pain with anhidrosis (CIPA). ABSTRACT Background Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic ...
Higashimoto T, Garber ME, Hipp L, Damon J, Li Q.   +4 more
europepmc   +2 more sources

Some Bianchi Type III String Cosmological Models with Bulk Viscosity [PDF]

, 2006
We investigate the integrability of cosmic strings in Bianchi III space-time in presence of a bulk viscous fluid by applying a new technique. The behaviour of the model is reduced to the solution of a single second order nonlinear differential equation ...
A. Banerjee, A. Vilenkin, A.E. Everett, Anirudh Pradhan, Anju Rai, G.P. Singh, G.P. Singh, H. Baysal, İ. Yavuz, I. Yilmaz, J. Carminati, J. Stachel, J.E. Lidsey, K.D. Krori, L.D. Landau, L.K. Patel, Mahesh Kumar Yadav, P.S. Letelier, P.S. Letelier, R. Bali, R. Bali, R. Bali, R. Bali, R. Tikekar, R. Tikekar, S. Chakraborty, S. Ram, S.D. Maharaj, T.W.B. Kibble, T.W.B. Kibble, X.X. Wang, X.X. Wang, X.X. Wang, X.X. Wang, X.X. Wang, Ya.B. Zel’dovich, Ya.B. Zel’dovich, Ya.B. Zel’dovich   +37 more
core   +4 more sources