Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Dulce Lima"'
Autor:
Dulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, Philippa Harding, Jo Huiqing Zhou, Mariya Moosajee
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 240-253 (2023)
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in haploinsuffi
Externí odkaz:
https://doaj.org/article/98e828503cb54ef894c2376858eda553
Autor:
Jos G A Smits, Dulce Lima Cunha, Maryam Amini, Marina Bertolin, Camille Laberthonnière, Jieqiong Qu, Nicholas Owen, Lorenz Latta, Berthold Seitz, Lauriane N Roux, Tanja Stachon, Stefano Ferrari, Mariya Moosajee, Daniel Aberdam, Nora Szentmary, Simon J van Heeringen, Huiqing Zhou
Publikováno v:
PLoS Biology, Vol 21, Iss 10, p e3002336 (2023)
The transparent corneal epithelium in the eye is maintained through the homeostasis regulated by limbal stem cells (LSCs), while the nontransparent epidermis relies on epidermal keratinocytes for renewal. Despite their cellular similarities, the prec
Externí odkaz:
https://doaj.org/article/c523fd35c9044ca68bcfe92e2129b496
Autor:
Isabel Teixeira, Dulce Lima
Publikováno v:
Indagatio Didactica, Vol 15, Iss 1 (2023)
Recorrer a atividades motivadoras e inovadoras no ensino da Geologia, utilizando o quotidiano para evidenciar a sua presença no dia-a-dia dos cidadãos, são fatores potenciadores da literacia geológica dos alunos. O jogo fomenta mudanças de conce
Externí odkaz:
https://doaj.org/article/e15eff389eba4e5d8d7a5384b7b89299
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 12, Pp 4119-4129 (2022)
Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently. Progressive sight loss can arise from cataracts, glaucoma, and aniridia-related ke
Externí odkaz:
https://doaj.org/article/522e71f92df44d02aeb0ed61c46e0130
Publikováno v:
Cells, Vol 12, Iss 13, p 1808 (2023)
The structure and major cell types of the multi-layer human cornea have been extensively studied. However, various cell states in specific cell types and key genes that define the cell states are not fully understood, hindering our comprehension of c
Externí odkaz:
https://doaj.org/article/6e5c91f4ee6640b38aa2c516557ee2c5
Publikováno v:
F1000Research, Vol 11 (2022)
Animal models have provided many insights into ocular development and disease, but they remain suboptimal for understanding human oculogenesis. Eye development requires spatiotemporal gene expression patterns and disease phenotypes can differ signifi
Externí odkaz:
https://doaj.org/article/bf6ba07812a4419d8929e03d61804954
Publikováno v:
JCI Insight, Vol 6, Iss 14 (2021)
Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterized by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma, and aniridia-related keratopathy (ARK). Genotype-phenotype correlations have previously bee
Externí odkaz:
https://doaj.org/article/50ff67730a92498985d07ba9ba37b027
Autor:
Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102449- (2021)
Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. U
Externí odkaz:
https://doaj.org/article/4ca0ddbcfc7348f0aabdd23156a8778f
Autor:
Dulce Lima Cunha, Rose Richardson, Dhani Tracey-White, Alessandro Abbouda, Andreas Mitsios, Verena Horneffer-van der Sluis, Panteleimon Takis, Nicholas Owen, Jane Skinner, Ailsa A. Welch, Mariya Moosajee
Publikováno v:
JCI Insight, Vol 6, Iss 9 (2021)
Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations in CHM, encoding for Rab escort protein 1 (REP1). Loss of functional REP1 leads to the accumulation of unprenylated Rab proteins and defective intracellular prot
Externí odkaz:
https://doaj.org/article/a6a56a5b83ac4e6895eb2e14c85983ca
Autor:
Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102184- (2021)
A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation i
Externí odkaz:
https://doaj.org/article/ab87db4c38274f7f89e36e6d555fc2d2