Results 91 to 100 of about 1,567 (165)

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Expression of Nucleoprotein Gene of CTN Strain Rabies Virus from China in <i>E. coli </i>with Antigenicity

, 2013
Wangbin Cao, Ying He, Shi QiuMei, Yang CaiRan, Yanying Zhang   +4 more
openalex   +2 more sources

Additional file 1 of Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Additional file 1. Averaged ERPs per group over parietal, parietal-occipital, and occipital channels.
Horsthuis, Douwe J., Molholm, Sophie, Foxe, John J., Francisco, Ana A.   +3 more
openaire   +1 more source

Lysosomal reduced thiols are essential for mouse embryonic development. [PDF]

Proc Natl Acad Sci U S A
Adelmann CH, Venkatachalam A, Huang L, Liu M, Germana S, Harry SA, Rosen PC, Herron J, Tien PC, Bar-Peled L, Sabatini DM, Fisher DE.   +11 more
europepmc   +1 more source

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model. [PDF]

Front Cell Dev Biol
Rossi MN, Ciolfi A, Matteo V, Pedace L, Nardini C, Loricchio E, Caiello I, Bellomo F, Taranta A, De Leo E, Tartaglia M, Emma F, De Benedetti F, Miele E, Prencipe G.   +14 more
europepmc   +1 more source

Mobilome of Environmental Isolates of <i>Clostridioides difficile</i>. [PDF]

Antibiotics (Basel)
Blau K, Gallert C.
europepmc   +1 more source

Effects of hypoxia and hyperoxia on exercise-induced metabolomic and transcriptomic profiles in equine skeletal muscle. [PDF]

J Exp Biol
Takahashi K, Mukai K, Takahashi Y, Ebisuda Y, Sugiyama F, Hatta H, Kitaoka Y.   +6 more
europepmc   +1 more source

Novel mechanism for tubular injury in nephropathic cystinosis. [PDF]

Elife
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 more
europepmc   +1 more source

Ocular cystinosis: Rarity redefined

Indian Journal of Ophthalmology, 2019
Mayuresh P Naik, Harinder S Sethi, Smriti Dabas   +2 more
doaj   +1 more source

Differential roles for CLA-1L and UNC-10 in endosomal maturation and peptide release at <i>C. elegans</i> synapses impacting lifespan. [PDF]

Front Mol Biosci
Krout M, Miciulis E, Lai PQ, Richmond JE.   +3 more
europepmc   +1 more source