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Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á, Kaposi A, Schnabel K, Seidl D, Tory K. Mikó Á, et al. Hum Mutat. 2021 Nov;42(11):1473-1487. doi: 10.1002/humu.24273. Epub 2021 Aug 28. Hum Mutat. 2021. PMID: 34405919
Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS, GALT, IDUA, MUT, NPHS1, NPHS2, PAH, PKHD1, PMM2, or SLC26A4-related disorders. ...
Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS …
Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li C, Zhang R, Pan F, Xin Q, Shi X, Guo W, Qiao D, Wang Z, Zhang Y, Liu X, Zhang Y, Shao L. Li C, et al. Clin Genet. 2024 Mar;105(3):323-328. doi: 10.1111/cge.14460. Epub 2023 Nov 27. Clin Genet. 2024. PMID: 38009794
Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre-mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be …
Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that …
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M, Trabelsi M, Ben Youssef S, Ouertani I, Hammi Y, Achour A, Maazoul F, Kharrat M, Gargah T, M'rad R. El Younsi M, et al. Pediatr Nephrol. 2023 Jan;38(1):119-129. doi: 10.1007/s00467-022-05525-1. Epub 2022 Apr 20. Pediatr Nephrol. 2023. PMID: 35445972
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African populati …
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cyst …
Characterization of mobile genetic elements in multidrug-resistant Bacteroides fragilis isolates from different hospitals in the Netherlands.
Boiten KE, Kuijper EJ, Schuele L, van Prehn J, Bode LGM, Maat I, van Asten SAV, Notermans DW, Rossen JWA, Veloo ACM. Boiten KE, et al. Anaerobe. 2023 Jun;81:102722. doi: 10.1016/j.anaerobe.2023.102722. Epub 2023 Mar 29. Anaerobe. 2023. PMID: 37001724 Free article.
The tetQ gene was present on novel conjugative transposons (CTns) belonging to the CTnDOT family. Two isolates harbored a novel plasmid with tetQ. ...ARGs harboured differed between isolates and corresponded with the observed phenotypic resistance. CONCLUSIONS: Novel CT …
The tetQ gene was present on novel conjugative transposons (CTns) belonging to the CTnDOT family. Two isolates harbored a novel plasm …
ELX-02: an investigational read-through agent for the treatment of nonsense mutation-related genetic disease.
Kerem E. Kerem E. Expert Opin Investig Drugs. 2020 Dec;29(12):1347-1354. doi: 10.1080/13543784.2020.1828862. Epub 2020 Oct 12. Expert Opin Investig Drugs. 2020. PMID: 32972261 Free article.
It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystinosis. In Phase 1 clinical trials, 105 volunteers were exposed to ELX-02. To date, ELX-02 is well tolerated and there has been no reporte …
It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystin …
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
Papizh S, Serzhanova V, Filatova A, Skoblov M, Tabakov V, van den Heuvel L, Levtchenko E, Prikhodina L. Papizh S, et al. BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2. BMC Nephrol. 2019. PMID: 31672123 Free PMC article.
Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. ...Both parents were found to be heterozygous carriers of the CTNS mutation. CONCLUSIONS: Analysis of CTNS gene transcript allowed to iden …
Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. ...Both pare …
Detection of a Novel, and Likely Ancestral, Tn916-Like Element from a Human Saliva Metagenomic Library.
Reynolds LJ, Anjum MF, Roberts AP. Reynolds LJ, et al. Genes (Basel). 2020 May 14;11(5):548. doi: 10.3390/genes11050548. Genes (Basel). 2020. PMID: 32422869 Free PMC article.
Tn916 is a conjugative transposon (CTn) and the first reported and most well characterised of the Tn916/Tn1545 family of CTns. Tn916-like elements have a characteristic modular structure and different members of this family have been identified based on similarities and va …
Tn916 is a conjugative transposon (CTn) and the first reported and most well characterised of the Tn916/Tn1545 family of CTns. Tn916- …
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion.
Buntinx L, Voets T, Morlion B, Vangeel L, Janssen M, Cornelissen E, Vriens J, de Hoon J, Levtchenko E. Buntinx L, et al. Sci Rep. 2016 Oct 13;6:35395. doi: 10.1038/srep35395. Sci Rep. 2016. PMID: 27734949 Free PMC article.
Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb delet …
Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lyso …