Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India

Autor: ColinE Willoughby, NeeruA Vallabh, Chitra Sambare, Dorota Muszynska-Lyons, Sagarika Patiyal, Aditya Kelkar, Milind Killedar, Sangeeta Malani, Medha Prabhudesai, Tejaswini Walimbe, GarethJ McKay

Publikováno v: Vallabh, N A, Sambare, C, Muszynska-Lyons, D, Patiyal, S, Kelkar, A, Killedar, M, Malani, S, Prabhudesai, M, Walimbe, T, McKay, G J & Willoughby, C E 2022, ' Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India ', Indian journal of ophthalmology, vol. 70, no. 6, pp. 2024-2028 . https://doi.org/10.4103/ijo.IJO_2664_21

Purpose: The purpose of this study was to genotype two previously identified SNPs (rs1048661:R141L, and rs3825942:G153D) in the lysyl oxidase-like 1 (LOXL1) gene and determine their association with pseudoexfoliation glaucoma (XFG) in patients from P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862f8d585d23660d5bca078ec1abe8ed
https://pubmed.ncbi.nlm.nih.gov/35647974

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

Autor: Juliette Mazereeuw-Hautier, Nathalie Jonca, Hélène Teixer, M. Severino-Freire, Fanny Morice-Picard, Marie Vincent, V. Gaston, Hélène Aubert

Publikováno v: Acta Dermato-Venereologica
Acta Dermato-Venereologica, Society for Publication of Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩
Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩
Acta Dermato-Venereologica, Vol 100, Iss 4, p adv00047 (2020)

is missing (Short communication)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da74f193dfca4293d47ad38bd4e78595
https://pubmed.ncbi.nlm.nih.gov/31633189

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Autor: Ingrid Hausser, Vibeke Vestergaard, Judith Fischer, Hans Törmä, Alrun Hotz, Andreas Zimmer, Emmanuelle Bourrat, Lisa Heinz, Anca Dragomir, Marc-Alexander Rauschendorf, Anette Bygum, Christina Fagerberg, Hanqian Zhang, Anders Vahlquist

Publikováno v: Hotz, A, Fagerberg, C, Vahlquist, A, Bygum, A, Törmä, H, Rauschendorf, M-A, Zhang, H, Heinz, L, Bourrat, E, Hausser, I, Vestergaard, V, Dragomir, A, Zimmer, A D & Fischer, J 2018, ' Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis ', British Journal of Dermatology, vol. 178, no. 3, pp. e207-e209 . https://doi.org/10.1111/bjd.15994

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca0215e5585d646236a5e6bf4a5e51f
https://findresearcher.sdu.dk:8443/ws/files/128559145/Identification_of_Mutations_in_SDR9C7_in_6_Families_with_Autosomal_Recessive_Congenital_Ichthyosis.pdf

A comparison of the embryonic stem cell test and whole embryo culture assay combined with the BeWo placental passage model for predicting the embryotoxicity of azoles

Autor: Dimopoulou, Myrto, Verhoef, Aart, Gomes, Caroline A, van Dongen, Catharina W, Rietjens, Ivonne M C M, Piersma, Aldert H, van Ravenzwaay, Bennard, Sub RIVM, dIRAS RA-1

Publikováno v: Toxicology Letters, 286, 10-21
Toxicology Letters, 286, 10. Elsevier Ireland Ltd.
Toxicology Letters 286 (2018)

In the present study, we show the value of combining toxico-dynamic and -kinetic in vitro approaches for embryotoxicity testing of azoles. Both the whole embryo culture (WEC) and the embryonic stem cells test (EST) predicted the in vivo potency ranki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7c0cd68481a06c942188279cd9a67d
https://research.wur.nl/en/publications/a-comparison-of-the-embryonic-stem-cell-test-and-whole-embryo-cul

Quadruple-first line drug resistance in Mycobacterium tuberculosis in Vietnam: What can we learn from genes?

Autor: Thuong Thi Vu, Son Thai Nguyen, Thanh Hoa Thi Tran, Anh Duc Dang, Huy Quang Nguyen, Hung Van Nguyen, Ngoc-Lan Nguyen, Nhung Viet Nguyen, Anne-Laure Bañuls, Van Anh Thi Nguyen, Lucie Contamin

Publikováno v: Infection, Genetics and Evolution
Infection, Genetics and Evolution, Elsevier, 2017, 50, pp.55-61. ⟨10.1016/j.meegid.2017.02.012⟩

International audience; In Vietnam, a country with high tuberculosis (137/100.000 population) and multidrug-resistant (MDR)-TB burdens (7.8/100.000 population), little is known about the molecular signatures of drug resistance in general and more par

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f671e1e17378b0c6057eb6eae9f1291
https://pubmed.ncbi.nlm.nih.gov/28214557