Results 51 to 60 of about 8,115 (216)

The Israeli National Genetic database: a 10-year experience [PDF]

, 2017
BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients.
Patrinos, G.P. (George P.), Zlotogora, J. (Joël)   +1 more
core   +8 more sources

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

Congenital insensitivity to pain and anhidrosis

Indian Journal of Orthopaedics, 2011
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase - a nerve growth factor
Sasnur, Ashok H, Sasnur, Prakash A, Ghaus-ul, Raza Shamikh Muneer   +2 more
openaire   +3 more sources

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, Volume 16, Issue 2, Page 252-267, February 2026.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Hypnotic analgesia reduces brain responses to pain seen in others. [PDF]

, 2017
Brain responses to pain experienced by oneself or seen in other people show consistent overlap in the pain processing network, particularly anterior insula, supporting the view that pain empathy partly relies on neural processes engaged by self ...
A Krishnan, A Öhman, AR Aron, BC Bernhardt, BE Depue, C Corradi-Dell’Acqua, C Lamm, C Lamm, D Kleinböhl, F Vignemont De, GD Iannetti, J Decety, JT Buhle, JW Peirce, K Friston, LE Simons, M Faymonville, M Faymonville, MC Anderson, MV Saarela, N Danziger, OM Klimecki, P Rainville, RE Shor, RH Gracely, T Singer, T Singer, TD Wager, V Legrain, WK Simmons, Y Cojan, Y Cojan   +31 more
core   +4 more sources

The parabss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects

European Journal of Pain, Volume 30, Issue 2, February 2026.
ABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Serena Mares Malta, Lucas Ian Veloso Correia, Alexandre Souza Marquez, Lucas Matos Martins Bernardes, John George Howland, Ana Paula Mendes‐Silva, Foued Salmen Espíndola, Carlos Ueira‐Vieira   +7 more
wiley   +1 more source

Pain: A Necessary Evil? (Anesthetic Management of Congenital Pain Insensitivity Syndrome)

Indian Journal of Pain
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal disorder. It is characterized by systemic insensitivity to pain, unexplained fever, and psychiatric manifestations.
Swati Keshav Vijapurkar, Sandeep Gade, Khushbu Karoo, Amrita Rath   +3 more
doaj   +1 more source

Hyperplastic callus formation in congenital insensitivity to pain: A masquerader of osteosarcoma

Pediatric Hematology Oncology Journal, 2023
Background: Congenital insensitivity to pain (CIP) is a rare genetic disorder characterized by the inability to experience pain. Unrecognized, repeated injuries may result in poorly healed fractures with hyperplastic callus formation, auto-amputation of ...
Maha Anwar, Maha Rashid Malik, Shaarif Bashir, Usman Hassan, Alina Sadaf   +4 more
doaj   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source