E-viri
Recenzirano
-
Barker, Naomi; Judge, Daniel P.
The American journal of cardiology, December 2022, 2022-12-00, 20221201, Letnik: 185Journal Article
Transthyretin (TTR), a plasma transport protein produced in the liver, is prone to misfolding, leading to the deposition of amyloid fibrils and progressive dysfunction of cardiac and nervous system tissues, a condition known as amyloid TTR (ATTR) amyloidosis. More than 140 different pathogenic variants in TTR have been documented, most of which cause hereditary forms of ATTR amyloidosis. The most common mutations, traditionally known as Val30Met, Val122Ile, and Thr60Ala, lead to predominantly sensory, motor, and autonomic neuropathies, cardiomyopathy, and mixed presentations, respectively, although each mutation may cause symptoms across the neurologic and cardiac spectrum. Val30Met is endemic to Brazil, Japan, Portugal, and Sweden. The Val122Ile variant is present in 3.4% of people with West African ancestry, whereas Thr60Ala originated in northwestern Ireland and spread to the rest of the United Kingdom, the United States, and elsewhere. Val30Met and Thr60Ala tend to have more aggressive clinical presentations at younger ages, whereas Val122Ile predominantly affects older Black men. Due to similarities with hypertrophic cardiomyopathy, heart failure with preserved ejection fraction, and other overlapping conditions, ATTR cardiomyopathy is often under recognized and underdiagnosed, especially in Val122Ile carriers. Understanding these carrier populations and differences in ATTR amyloidosis characteristics associated with each variant is essential for appropriate diagnosis and genetic counseling of affected patients and their relatives.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.