Results 11 to 20 of about 310,806 (291)
RNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis.
Current Gene Therapy, 2023 Neuromuscular diseases are severe disorders affecting the peripheral nervous system, usually driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing the prognosis and quality of life for these patients.
M. Ceccanti, Maurizio Inghilleri
semanticscholar +1 more source
PCR Detection of an Eye Anomaly in a Family of Longhaired Collies
Folia Veterinaria, 2022 Inherited eye diseases have been the subject of genetic research for many years. This paper focuses on the optimisation of the DNA test based on the polymerase chain reaction (PCR) for the detection of Collie Eye Anomaly (CEA) in dogs.
Holečková B. +5 more
doaj +1 more source
Connexin Mutations and Hereditary Diseases
International Journal of Molecular Sciences, 2022 Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot–Marie–Tooth disease (CMT1X).
Yue Qiu +3 more
semanticscholar +1 more source
Asia - Pacific Journal of Ophthalmology, 2022 Japan Eye Genetics Consortium (JEGC) was established in 2011 to migrate research system to all-Japan structure for collecting phenotype-genotype information for inherited retinal diseases and other retinal diseases including hereditary optic neuropathy ...
T. Iwata
semanticscholar +1 more source
The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.
PLoS ONE, 2023 Genetic disease control is generally not given the importance it deserves. Information about what percentage of individuals carry a disorder-causing mutation is crucial for breeders to produce healthy offspring and maintain a healthy dog population of a ...
Zuzana Majchrakova +4 more
doaj +1 more source
The Role of MicroRNAs in Mitochondria-Mediated Eye Diseases
Frontiers in Cell and Developmental Biology, 2021 The retina is among the most metabolically active tissues with high-energy demands. The peculiar distribution of mitochondria in cells of retinal layers is necessary to assure the appropriate energy supply for the transmission of the light signal ...
S. Carrella, Filomena Massa, A. Indrieri
semanticscholar +1 more source
Oftalʹmologiâ, 2014 Purpose: to study the diversity of the clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region.Methods: We conducted an epidemiological study of hereditary ophthalmopathology population of ...
O. L. Kireeva +6 more
doaj +3 more sources
Российский офтальмологический журнал, 2021 Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary human diseases has opened.
V. V. Neroev +4 more
doaj +1 more source
Indian Journal of Ophthalmology, 2022 Purpose: To analyze the genetic referral practices of pediatric ophthalmologists in an urban setting. Methods: (1) The first limb of the study: cross-sectional, observational study among children visiting the outpatient department of pediatric ...
Shruti Bajaj +3 more
doaj +1 more source
Medical management of hereditary optic neuropathies. [PDF]
, 2014 Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero +4 more
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