Results 31 to 40 of about 2,317 (179)

Effects of parabolic flight and spaceflight on the endocannabinoid system in humans [PDF]

, 2012
The endocannabinoid system (ECS) plays an important role in the regulation of physiological functions, from stress and memory regulation to vegetative control and immunity.
Chouker, Alexander, Feuerecker, Matthias, Hauer, Daniela, Kaufmann, Ines, Morukov, Boris, Nichiporuk, Igor, Schelling, Gustav, Strewe, Claudia   +7 more
core   +1 more source

Sjögren–Larsson Syndrome: A Case Report of a Rare Neuro-cutaneous Disorder

Nepalese Medical Journal, 2019
Sjögren–Larsson syndrome is a rare autosomal recessive neuro-cutaneous disease. The dominant features are congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation.
Manish Pradhan, Arun Giri, Dipa Rai, Rajeev Yadav   +3 more
doaj   +1 more source

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +2 more sources

Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]

, 2015
Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core   +1 more source

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023
ELOVL4‐related ichthyosis, spastic quadriplegia and mental retardation (ISQMR) is a rare autosomal recessive disorders characterized by ichthyosis with neurological features. Only five families with ISQMR with biallelic single‐nucleotide variants have been described date and no families with copy number variants (CNVs) have been described.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi   +18 more
wiley   +1 more source

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells [PDF]

, 2013
Mutations in Wiskott-Aldrich syndrome (WAS) protein (WASp), a regulator of actin dynamics in hematopoietic cells, cause WAS, an X-linked primary immunodeficiency characterized by recurrent infections and a marked predisposition to develop autoimmune ...
Agrawal, Alessandro Aiuti, Altfeld, Andreansky, Anna Villa, Astrakhan, Ayse Metin, Badour, Baechler, Baechler, Barrat, Becker-Herman, Björck, Blanco, Blomberg, Bosticardo, Bosticardo, Bouma, Båve, Båve, Cancro, Cao, Caterina Cancrini, de Noronha, Derivery, Ding, Duan, Dupré, Dupuis-Girod, Elisa Bonomi, Emamian, Escoll, Federica Benvenuti, Fleck, Francesca Prete, Gallego, Garcia-Romo, Gilliet, Gilliet, Gismondi, Gottenberg, Guiducci, Honda, Humblet-Baron, Humphreys-Beher, Imai, Ito, Itoh, Jego, Jin, Kaksonen, Kanto, Kwok, Kwok, Lande, Latz, Le Bon, Le Bon, Leverrier, Litinskiy, Locci, Lorenzi, Luigi Daniele Notarangelo, Lövgren, Maillard, Marangoni, Marco Catucci, Maria Carmina Castiello, Mayrel Labrada, Means, Merrifield, Meyer-Bahlburg, Migita, Mirjam van der Burg, Morales-Tirado, Murai, Nestle, Nguyen, Nikolov, Ohashi, Orange, Pascual, Pau, Presicce, Prinz, Pulecio, Recher, Robbert Bredius, Sanjuan, Santiago-Raber, Sasahara, Sasai, Sasai, Shimizu, Sims, Snapper, Snapper, Sophie Hambleton, Stefania Gobessi, Strom, Takenawa, Thrasher, Trifari, Trifari, Tsuboi, Ulrich Kalinke, Vallin, van Baarsen, van der Pouw Kraan, Vermi, Vermi, Wengler, Westerberg, Westerberg, William Vermi, Zhu   +115 more
core   +9 more sources

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2010
Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental.
Marcela Duarte Villela Benez, Elisa Fontenelle, Brunela Bastos Tozzi, Carolina Presotto   +3 more
doaj   +1 more source

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +1 more source

Fatty aldehyde dehydrogenase, the enzyme downstream of tetrahydrobiopterin-dependent alkylglycerol monooxygenase

Pteridines, 2013
The tetrahydrobiopterin-dependent degradation of ether lipids by alkylglycerol monooxygenase (AGMO) produces fatty aldehydes, which are toxic to cells.
Keller Markus A., Watschinger Katrin, Golderer Georg, Werner-Felmayer Gabriele, Werner Ernst R.   +4 more
doaj   +1 more source

The liver is a common non-exocrine target in primary Sjögren's syndrome: A retrospective review [PDF]

, 2015
Background The autoimmune destruction of exocrine glands that defines primary Sjögren's syndrome (1°SS) often extends to non-exocrine organs including the liver.
Mariana J Kaplan, Robert W Ike, J Christianson, K Whaley, FN Skopuli, EB Tsianos, S Lindgren, N Masaki, J Webb, BU Hansen, A Archimandritis, D Alarcon-Segovia, SC Gumber, J Haddad, M Pirisi, CA Scott, J Coll, C Jorgensen, JM Pawlotsky, MJ Wattiaux, K Koike, ZG Aprosin, M Garcia Carrasco, PP Montefusco, I Gonzalez-Alvaro, CA Oscott, AJ Czaja, C Vitali, C Vitali, C Vogel, CW Denko, NA Vanselow, KJ Bloch, GV Gregorio, F Konikoff, HM Moutsopoulos, V Loustaud-Ratti, RI Fox, HM Moutsopoulos, KC Siamopoulos, SH Constantopoulos, EW St Clair, HM Moutsopoulos   +42 more
core   +1 more source