Eintracht J - Search Results

1

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.

Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M; Genomics England Research Consortium. Owen N, et al. Among authors: eintracht j. Genet Med. 2022 May;24(5):1073-1084. doi: 10.1016/j.gim.2021.12.014. Epub 2022 Jan 13. Genet Med. 2022. PMID: 35034853 Free PMC article.

2

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Eintracht J, Corton M, FitzPatrick D, Moosajee M. Eintracht J, et al. Eur J Hum Genet. 2020 May;28(5):679-690. doi: 10.1038/s41431-019-0565-4. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896778 Free PMC article. No abstract available.

3

The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.

Eintracht J, Toms M, Moosajee M. Eintracht J, et al. Front Cell Neurosci. 2020 Aug 20;14:265. doi: 10.3389/fncel.2020.00265. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32973457 Free PMC article.

4

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions.

Méjécase C, Harding P, Sarkar H, Eintracht J, Lima Cunha D, Toualbi L, Moosajee M. Méjécase C, et al. Among authors: eintracht j. Stem Cell Res. 2020 Dec;49:102113. doi: 10.1016/j.scr.2020.102113. Epub 2020 Dec 8. Stem Cell Res. 2020. PMID: 33370878 Free PMC article.

5

Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.

Harding P, Lima Cunha D, Méjécase C, Eintracht J, Toualbi L, Sarkar H, Moosajee M. Harding P, et al. Among authors: eintracht j. Stem Cell Res. 2021 Mar;51:102184. doi: 10.1016/j.scr.2021.102184. Epub 2021 Jan 18. Stem Cell Res. 2021. PMID: 33524672 Free PMC article.

6

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.

Sarkar H, Méjécase C, Harding P, Eintracht J, Toualbi L, Cunha DL, Moosajee M. Sarkar H, et al. Among authors: eintracht j. Stem Cell Res. 2021 Jul;54:102449. doi: 10.1016/j.scr.2021.102449. Epub 2021 Jun 28. Stem Cell Res. 2021. PMID: 34216980 Free PMC article.

7

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.

Eintracht J, Forsythe E, May-Simera H, Moosajee M. Eintracht J, et al. EBioMedicine. 2021 Aug;70:103515. doi: 10.1016/j.ebiom.2021.103515. Epub 2021 Aug 5. EBioMedicine. 2021. PMID: 34365092 Free PMC article.

8

Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells.

Eintracht J, Harding P, Lima Cunha D, Moosajee M. Eintracht J, et al. F1000Res. 2022 Mar 17;11:324. doi: 10.12688/f1000research.108829.1. eCollection 2022. F1000Res. 2022. PMID: 35811797 Free PMC article.

9

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs.

Lima Cunha D, Sarkar H, Eintracht J, Harding P, Zhou JH, Moosajee M. Lima Cunha D, et al. Among authors: eintracht j. Mol Ther Nucleic Acids. 2023 Jun 26;33:240-253. doi: 10.1016/j.omtn.2023.06.016. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37483273 Free PMC article.

10

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.

Eintracht J, Owen N, Harding P, Moosajee M. Eintracht J, et al. Stem Cell Reports. 2024 Jun 11;19(6):839-858. doi: 10.1016/j.stemcr.2024.05.001. Epub 2024 May 30. Stem Cell Reports. 2024. PMID: 38821055 Free PMC article.

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