MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease …
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …
FT Chebib, VE Torres - Clinical Journal of the American Society of …, 2018 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic cause of ESKD, is characterized by relentless development of kidney cysts, hypertension …
M Sicking, S Lang, F Bochen, A Roos, JPH Drenth… - Cells, 2021 - mdpi.com
The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …
IM Sanchis, S Shukoor, MV Irazabal… - Clinical Journal of the …, 2019 - journals.lww.com
Results Ninety-four intracranial aneurysms were diagnosed in 75 of 812 (9%) patients who underwent magnetic resonance angiography screening. Sex, age, race, and genotype were …
GB Colbert, ME Elrggal, L Gaur, EV Lerma - Disease-a-Month, 2020 - Elsevier
Autosomal dominant polycystic kidney disease is a common cause of end stage kidney disease. It is a progressive and unfortunately incurable condition that can lead to significant …
T Suwabe, S Shukoor, AM Chamberlain… - Clinical Journal of the …, 2020 - journals.lww.com
Results The age-and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980–2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 …
MB Lanktree, E Guiard, P Akbari… - Clinical Journal of the …, 2021 - journals.lww.com
Results Among 174 study patients with typical imaging patterns and protein-truncating PKD1 mutations, 32 (18%) were found to have mild disease on the basis of imaging results (ie …