Results 241 to 250 of about 28,198 (294)

A model for de novo pigmentation of amelanotic retinal pigment epithelial cells

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinal Pigment Epithelial (RPE) cells perform critical functions in the visual cycle. Their melanin pigmentation, which is organized into specialized compartments – melanosomes, is highly critical for proper vision. A chemical method to induce pigmentation in a non‐pigmented model of ARPE‐19 cells was applied using L‐DOPA as a ...
Santosh Gupta, Lyubomyr Lytvynchuk, Taras Ardan, Hana Studenovska, Georgina Faura, Lars Eide, Ljubo Znaor, Slaven Erceg, Knut Stieger, Jan Motlik, Goran Petrovski   +10 more
wiley   +1 more source

Karyological differentiation among bread wheat cultivars (Triticum aestivum L.) with distinct breeding statuses and growth habits. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Muterko AF, Badaeva ED, Zuev EV, Salina EA.   +3 more
europepmc   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review. [PDF]

Clin Genet
van de Velde S, Mink van der Molen AB, Lachmeijer AMA, de Leijer D, Smits JJ, Massink MPG, Versnel SL, van den Boogaard MH, Paes EC.   +8 more
europepmc   +1 more source

Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review. [PDF]

Mol Cytogenet
Wei L, He Y, Liu D, Chi X, Qin X.
europepmc   +1 more source

The impact of scaRNA12 deregulation on p53‐mediated cellular stress response in B‐cell precursor acute lymphoblastic leukaemia

British Journal of Haematology, EarlyView.
Summary Small nucleolar ribonucleic acids (snoRNAs) are a class of small non‐coding RNAs involved in the post‐transcriptional modification of ribosomal RNAs (rRNA) and small nuclear RNAs (snRNA). Mounting evidence indicates that specific snoRNAs are drivers of oncogenesis, but their role in B‐cell precursor acute lymphoblastic leukaemia (BCP‐ALL) is ...
Martijn W. C. Verbeek, Mathijs A. Sanders, Dwin G. B. Grashof, Remco M. Hoogenboezem, Iris van Zuijen, Annemarieke Bos, Trui van Gulck, Rosan Olsman, Rishov Mukhopadhyay, Eric M. J. Bindels, Peter J. M. Valk, Harmen J. G. van de Werken, Vincent H. J. van der Velden, Stefan J. Erkeland   +13 more
wiley   +1 more source

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo <i>F8</i> Variant. [PDF]

Int J Mol Sci
Pshenichnikova O, Salomashkina V, Yastrubinetskaya O, Surin V, Mishina O, Alimova G, Obukhova T, Zozulya N.   +7 more
europepmc   +1 more source

Cytogenetics and Cytogenomics in Clinical Diagnostics: Genome Architecture, Structural Variants, and Translational Applications. [PDF]

Genes (Basel)
Federico C, Brancato D, Bruno F, Coniglio E, Sturiale V, Saccone S.   +5 more
europepmc   +1 more source

Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio. [PDF]

Front Cell Dev Biol
Haake J, Steenpass L.
europepmc   +1 more source

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models. [PDF]

Front Genet
Ruan J, Song Q, Hu Y, Liu X, Li S, Zhu J, Yang L.   +6 more
europepmc   +1 more source