Results 51 to 60 of about 33,870 (219)

Nutrigenomics and immune function in fish : new insights from omics technologies [PDF]

, 2017
This study was funded by BBSRC grant BB/M026604/1.Peer reviewedPublisher ...
Krol, Elzbieta, Martin, Samuel A. M.
core   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Scientific Reports, 2017
Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes – to date
Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz   +9 more
doaj   +1 more source

A SWOT Analysis of Three Programmes for Persons With Intellectual Disabilities in Higher Education Settings in Chile, Ireland and Australia

British Journal of Learning Disabilities, EarlyView.
ABSTRACT Background Educational access is key in empowering persons living with intellectual disabilities. Nevertheless, internationally, Persons with Intellectual Disabilities continue to experience marginalization and discrimination in accessing higher education.
Denise De Souza, Zelinna Pablo, Debashis Sarker, Maria Theresa von Fürstenberg, Alejandra Rios Urzua, Des Aston, Jennifer Banks, Donatella Camedda, Michael Shevlin   +8 more
wiley   +1 more source

Impact of Usher syndrome on athletic performance - navigating silence and darkness

Quality in Sport
Usher syndrome (USH) is an autosomal recessive genetic disorder and a leading cause of simultaneous hearing and vision loss. The aim of this paper is to provide a detailed review of Usher syndrome, including its pathogenesis, clinical symptoms ...
Mateusz Rosiński, Kamila Rosińska, Julia Natalia Łojewska, Ewelina Justyna Janicka, Agnieszka Perko, Monika Niedźwiedzka, Oliwia Bochenek, Agata Andrzejczyk   +7 more
doaj   +1 more source

Using Drosophila to study mechanisms of hereditary hearing loss

Disease Models & Mechanisms, 2018
Johnston's organ – the hearing organ of Drosophila – has a very different structure and morphology to that of the hearing organs of vertebrates. Nevertheless, it is becoming clear that vertebrate and invertebrate auditory organs share many physiological,
Tongchao Li, Hugo J. Bellen, Andrew K. Groves   +2 more
doaj   +1 more source

Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome

Heliyon, 2021
Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome.
Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu   +12 more
doaj   +1 more source

Narcissistic Traits and Narcissistic Personality Disorder in Dermatology With a Focus on Body‐Dysmorphic Disorder

International Journal of Dermatology, EarlyView.
There are many misconceptions about narcissistic personality disorder, not only in the public consciousness, but also in dermatological and aesthetic practice. Patients and their environment may both suffer from the symptoms. These conditions can be managed with psychotherapeutic interventions, but recognizing the psychological problem can be ...
Eszter Szlávicz, Péter Osváth, Jutta Major, Tamás Bancsók, Zsuzsanna Lengyel   +4 more
wiley   +1 more source

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study [PDF]

, 2018
The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we
A Hagiwara, A Schatz, AF Wright, AH Hariri, Andi Abeshi, Barbara Sala, BJ Keats, C Bunker, CA Adackapara, CO Pierrottet, CX Cai, DA Bessant, DB Farber, DG Birch, DT Hartong, E Strettoi, E Zrenner, F Testa, Fabio Patelli, GA Fishman, Giovanni Montesano, GM Acland, H Chung, H Hirakawa, H JR, HS Uy, J Sahel, JW Bainbridge, K Holopigian, L Dacruz, L Gränse, Leonardo Colombo, LH Lima, Luca Rossetti, M Haim, Matteo Bertelli, MS Humayun, Paolo Maltese, RP McNabb, S Bundey, S Grover, SG Jacobson, SP Daiger, T Léveillard, T Léveillard, T Sujirakul, V Busskamp, V Kitiratschky, VG Grigoropoulos, W Berger, W Seiple, Y He, Y Makiyama   +52 more
core   +1 more source