E-viri
Recenzirano
Odprti dostop
-
Burgmaier, Kathrin; Brinker, Leonie; Erger, Florian; Beck, Bodo B.; Benz, Marcus R.; Bergmann, Carsten; Boyer, Olivia; Collard, Laure; Dafinger, Claudia; Fila, Marc; Kowalewska, Claudia; Lange-Sperandio, Bärbel; Massella, Laura; Mastrangelo, Antonio; Mekahli, Djalila; Miklaszewska, Monika; Ortiz-Bruechle, Nadina; Patzer, Ludwig; Prikhodina, Larisa; Ranguelov, Nadejda; Schild, Raphael; Seeman, Tomas; Sever, Lale; Sikora, Przemyslaw; Szczepanska, Maria; Teixeira, Ana; Uetz, Barbara; Weber, Lutz Thorsten; Wühl, Elke; Zerres, Klaus; Dötsch, Jörg; Schaefer, Franz; Liebau, Max Christoph; Eid, Loai Akram; Arbeiter, Klaus; Godefroid, Nathalie; Lombet, Jacques; De Mul, Aurélie; Feldkoetter, Markus; Zieg, Jakub; Grundmann, Franziska; Galiano, Matthias; Buchholz, Björn; Buescher, Anja; Häffner, Karsten; Gross, Oliver; Haffner, Dieter; Bernhardt, Wanja; Schaefer, Susanne; Wygoda, Simone; Halbritter, Jan; Derichs, Ute; Klaus, Günter; Lechner, Felix; Ponsel, Sabine; König, Jens; Staude, Hagen; Wurm, Donald; Bald, Martin; Gessner, Michaela; Soliman, Neveen A.; Gonzalez Rodriguez, Juan David; Ojeda, Francisco de la Cerda; Harambat, Jerome; Morin, Denis; Dossier, Claire; Dorval, Guillaume; Shroff, Rukshana; Stabouli, Stella; Hooman, Nakysa; Mencarelli, Francesca; Morello, William; Longo, Germana; Emma, Francesco; Jankauskiene, Augustina; Taranta-Janusz, Katarzyna; Zagozdzon, Ilona; Zachwieja, Katarzyna; Stanczyk, Malgorzata; Bienias, Beata; Litwin, Mieczyslaw; Morawiec-Knysak, Aurelia; Afonso, Alberto Caldas; Dunand, Oliver; Rachisan, Andreea; Miloševski-Lomić, Gordana; Papizh, Svetlana; Rus, Rina; Jilani, Houweyda; Atmis, Bahriye; Duzova, Ali; Soylu, Alper; Candan, Cengiz; Caliskan, Salim; Yilmaz, Alev; Gökce, İbrahim; Akinci, Nurver; Mir, Sevgi; Tabel, Yilmaz; Nalcacioglu, Hulya
Kidney international, September 2021, 2021-09-00, 20210901, 2021-09, Letnik: 100, Številka: 3Journal Article
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches. Display omitted
Avtor
![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.