Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis [PDF]
, 2017 The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure.
Colavito, Davide +7 more
core +1 more source
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
Molecular Oncology, EarlyView.This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source
Towards the matter of genetic consulting in various forms of congenital and hereditary eye diseases
Офтальмохирургия, 2016 Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology.Material and methods.
B. E. Malyugin +7 more
doaj +1 more source
An Overview of Leber’s Hereditary Optic Neuropathy [PDF]
, 2015 Typically affecting males ranging from 20 to 24 years of age, Leber’s Hereditary Optic Neuropathy (LHON) is a disorder that is characterized by an acute loss of central vision.
Dalton, Matthew R
core +2 more sources
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. [PDF]
, 2016 To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the
Akram, Javed +9 more
core +2 more sources
RIPK4 function interferes with melanoma cell adhesion and metastasis
Molecular Oncology, EarlyView.RIPK4 promotes melanoma growth and spread. RIPK4 levels increase as skin lesions progress to melanoma. CRISPR/Cas9‐mediated deletion of RIPK4 causes melanoma cells to form less compact spheroids, reduces their migratory and invasive abilities and limits tumour growth and dissemination in mouse models.
Norbert Wronski +9 more
wiley +1 more source
Ultrasonography and Postmortem Magnetic Resonance Imaging of Bilateral Ocular Disease in a Heifer
RuminantsBovine ocular diseases are typically characterized by the concurrent appearances of both macroscopic and intraocular abnormalities. This study examines the diagnostic efficacy of a combination of ultrasonography and magnetic resonance imaging (MRI) for ...
Takeshi Tsuka +4 more
doaj +1 more source
Leber’s hereditary optic neuropathy companied with multiple-related diseases
Frontiers in Human Neuroscience, 2022 ObjectiveTo elucidate the clinical, radiologic characteristics of Leber’s hereditary optic neuropathy (LHON) associated with the other diseases.Materials and methodsClinical data were retrospectively collected from hospitalized patients with LHON ...
Ming-ming Sun +9 more
doaj +1 more source
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]
, 2015 The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M +4 more
core
Sex hormones in allergic conjunctivitis: altered levels of circulating androgens and estrogens in children and adolescents with vernal keratoconjunctivitis [PDF]
, 2015 PURPOSE: Vernal keratoconjunctivitis (VKC) is a chronic allergic disease mainly affecting boys in prepubertal age and usually recovering after puberty.
Bonini, S. +4 more
core +4 more sources