Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS

Kidney Internatl, 2021, 99 (6): 1451-8, Epub 2020 Dec 10, doi:10.1016/j.kint.2020.10.040

IF-8,945 MNiSW-140

The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2 Somatic Mutations.

Kałużewski T, Przybylski GK, Bednarek M, Glazar S, Grabiec M, Jędrzejczyk A, Kępczyński Ł, Kubiak I, Kucharska D, Morel A, Owczarek M, Rożniecki M, Sałamunia J, Szewczyk D, Szwalski J, Kałużewski B

J Personal Med, 2021 Apr 30;11 (5):e362, 18 str., doi: 10.3390/jpm11050362.

IF-4,433 MNiSW-70