Results 41 to 50 of about 2,293 (174)

A case report: Sjogren Larsson Syndrome [PDF]

Clinical Practice, 2019
Sjogren-Larsson Syndrome (SLS) is an autosomal recessive disorder with 100% penetrance. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. To educate the patients about the treatment of dry skin and proper counseling regarding the genetic basis of disease are needed.
Desale Snehal, Gugle Anil, Kote Rahul, Jadhav Vikrant   +3 more
openaire   +1 more source

N,N-diethylaminobenzaldehyde (DEAB) as a substrate and mechanism-based inhibitor for human ALDH isoenzymes [PDF]

, 2015
N,N-diethylaminobenzaldehyde (DEAB) is a commonly used "selective" inhibitor of aldehyde dehydrogenase isoenzymes in cancer stem cell biology due to its inclusion as a negative control compound in the widely utilized Aldefluor assay.
Buchman, Cameron D., Dria, Karl, Hurley, Thomas D., Morgan, Cynthia A., Parajuli, Bibek   +4 more
core   +1 more source

Genome-wide analyses identify common variants associated with macular telangiectasia type 2 [PDF]

, 2017
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS ...
A Bringmann, A Demirkan, A Kottgen, AC Barbosa, AC Len, AJ Mears, Anna Quaglieri, B Gold, B Howie, B Yu, BH Weber, C Giaume, C Toomes, Carolyn Cai, Catherine A Egan, CC Breugem, CC Chang, CW Carr, D Maiti, DA Bessant, EP Rhee, EY Chew, F Brancati, G Pare, G Tikellis, Global Lipids Genetics Consortium, GS Hageman, H Hao, I Eerola, I Eerola, J Bergeron-Sawitzke, J Raffler, J Raffler, J Yang, Jana Zernant, JB van Meurs, JD Cahoy, JDM Gass, JJ Chen, JR Black, JS Danik, K Mittelstrass, K Suhre, KT Oh, KZ Aung, L Bouchard, LA Lange, Lawrence A Yannuzzi, LC Kottyan, Lea Scheppke, LG Fritsche, LG Fritsche, Lisa Baird, LW Klomp, M Borenstein, M Henkemeyer, M Hong, M Sabater-Lleal, M Veiga-da-Cunha, M Zhao, M Zweier, Marcus Fruttiger, Mark Leppert, Martin Friedlander, MB Powner, MC Gillies, ME Kleber, ME Ritchie, Melanie Bahlo, MI Dorrell, MK Ikram, ML Summar, MR Metea, N Le Meur, N Revencu, N Siddiqui, NL Parmalee, NL Parmalee, Nori Matsunami, O Delaneau, P Artimo, Q Lin, Q Lin, R Klein, Rando Allikmets, RF Gariano, RJ Pruim, Roberto Bonelli, RS de Wijn, S Purcell, S Purcell, SH Chung, SH Lee, SR Hannan, SR Williams, SY Shin, T Illig, T Sing, T Watanabe, TD Gelehrter, TE Clemons, TE Clemons, Thomas S Scerri, TW Isaacs, U Menchini, V De Laurenzi, W Bi, W Wooderchak-Donahue, W Xie, WL Hutton, X Sim, Y Onishi, Y Usui, Z Xu   +113 more
core   +1 more source

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

Journal of Lipid Research, 2010
Fatty aldehyde dehydrogenase (EC 1.2.1.48) converts long-chain fatty aldehydes to the corresponding acids. Deficiency in this enzyme causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental ...
Markus A. Keller, Katrin Watschinger, Georg Golderer, Manuel Maglione, Bettina Sarg, Herbert H. Lindner, Gabriele Werner-Felmayer, Alessandro Terrinoni, Ronald J.A. Wanders, Ernst R. Werner   +9 more
doaj   +1 more source

Association between hypovitaminosis D and systemic sclerosis: True or fake? [PDF]

, 2016
Background: Vitamin D insufficiency/deficiency is considered a major factor triggering and enhancing several autoimmune disorders; hypovitaminosis D has been reported to be common in Systemic Sclerosis (SSc).
AGNELLO, Luisa, BIVONA, Giulia, CIACCIO, Marcello, LO SASSO, Bruna, MILANO, Salvatore, PIVETTI, ALESSIA, SCAZZONE, Concetta   +6 more
core   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Clinical Insights Regarding Oral Health Among Untreated and Positive Airway Pressure Treated Obstructive Sleep Apnea Patients

Journal of Sleep Research, EarlyView.
ABSTRACT Oral health‐related side effects are common in patients with both untreated and PAP‐treated OSA and can hinder adherence to PAP treatment. Despite extensive research on OSA and PAP, oral health experiences of PAP professionals remain unexplored.
K. Berggren, H. Ahonen, U. Lindmark, A. Broström, O. Sunnergren   +4 more
wiley   +1 more source

Monoaminergic Neuropathology in Alzheimer's disease [PDF]

, 2016
Acknowledgments This work was supported by The Croatian Science Foundation grant. no. IP-2014-09-9730 (“Tau protein hyperphosphorylation, aggregation, and trans-synaptic transfer in Alzheimer’s disease: cerebrospinal fluid analysis and assessment of ...
Bažadona, Danira, Buée, Luc, Delalle, Ivana, Giovanni, Giuseppe Di, Harrington, Charles R., Hof, Patrick R., Jovanov-Milošević, Nataša, Leko, Mirjana Babić, Silva, Rohan de, Wischik, Claude M., Wray, Selina, Šimić, Goran   +11 more
core   +1 more source

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S. Paller   +3 more
wiley   +1 more source

MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

Arquivos de Neuro-Psiquiatria, 2006
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic
Mauro Nakayama, Daniel G.F. Távora, Thereza C.L. Alvim, Alexandre C.B. Araújo, Rômulo L. Gama   +4 more
doaj   +1 more source