Ana is a molecular biologist enthusiastic about innovation and communication. In her role as a science writer she wishes to bring the advances in medical science and technology closer to the public, particularly to those most in need of them. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she focused her research on molecular biology, epigenetics and infectious diseases.
Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, as well as drawing possible correlations between the type of mutations involved and disease progression, ... Read more
Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may experience more severe disease, with ... Read more
Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in combination with those in collagen IV (COL4) genes, can affect the clinical presentation and aggravate ... Read more
Hearing loss in male patients with X-linked Alport syndrome (XLAS) is caused by sensorineural deafness that becomes worse with age. Also, the more serious the mutations carried by patients, ... Read more
Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and determine its mode of inheritance within a family, a review of eight related cases reports. ... Read more
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