Results 41 to 50 of about 12,421 (264)
Genetic technology in the targeted therapy of Alport Syndrome
Quality in SportIntroduction and aim of the study: Alport syndrome is the most common inherited chronic kidney disease, with three distinct patterns of inheritance: X-linked, autosomal, and digenic. Currently, there is no curative treatment for Alport syndrome.
Magdalena Kłusek +3 more
doaj +1 more source
Quantitative polarized light microscopy of human cochlear sections [PDF]
, 2014 Dysfunction of the inner ear is the most common cause of sensorineural hearing loss, which is the most common sensory deficit worldwide. Conventional imaging modalities are unable to depict the microanatomy of the human inner ear, hence the need to ...
Low, Jacob C. M. +3 more
core +1 more source
Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic disease of collagen IV (α3, 4, 5) resulting in renal failure. This study was designed to investigate sex-phenotype correlations and evaluate the contribution of macrophage infiltration to disease progression using Col4a3 ...
Munkyung Kim +8 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source
Collagens - structure, function and biosynthesis. [PDF]
, 2003 The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions.
Aigner, T, Gelse, K, Poschl, E
core +1 more source
Nephrotic Syndrome in a Child with Alport Syndrome: A Case Report and Literature Review
Journal of Gandhara Medical and Dental Sciences: Alport syndrome is a disorder affecting basement membranes in the glomeruli, cochlea, and eyes due to mutations in collagen IV genes (COL4A3, COL4A4, COL4A5).
syed shah
doaj +1 more source
Frontiers in Genetics, 2022 Purpose: The study aimed to report a rare case of a patient with Alport syndrome, which was manifested as unilateral non-infectious uveitis after bilateral cataract surgery.Methods: A case report.Results: A 2-year-old boy was diagnosed with unilateral ...
Yu Tian +7 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Haematuria on the spanish registry of glomerulonephritis [PDF]
, 2016 Recent studies suggest a pathogenic role for glomerular haematuria among renal function. However, there is no data on the prevalence of haematuria from a large renal biopsy registry.
López-Gómez, Juan Manuel +3 more
core +2 more sources
Structure-mechanics relationships of collagen fibrils in the Osteogenesis Imperfecta Mouse model [PDF]
, 2015 The collagen molecule, which is the building block of collagen fibrils, is a triple helix of two α1(I) chains and one α2(I) chain. However, in the severe mouse model of osteogenesis imperfecta (OIM), deletion of the COL1A2 gene results in the ...
Andriotis, OG +7 more
core +4 more sources