[HTML][HTML] Omics and Artificial Intelligence in Kidney Diseases

N Grobe, J Scheiber, H Zhang, C Garbe… - Advances in Kidney …, 2023 - Elsevier
Omics applications in nephrology may have relevance in the future to improve clinical care
of kidney disease patients. In a short term, patients will benefit from specific measurement …

Prevalence of Mendelian kidney disease among patients with high-risk APOL1 genotypes undergoing commercial genetic testing in the United States

RS Francisco Jr, S Punj, L Vincent, N Sanapareddy… - medRxiv, 2024 - medrxiv.org
Background: Among individuals with high-risk APOL1 genotypes, the lifetime risk of
developing kidney failure is~ 15%, indicating that other genetic variants or non-genetic …

Clinical Genetic Testing in Kidney Disease and Transplantation: Logistical, Ethical, Legal, and Social Considerations

T Schiff - Current Transplantation Reports, 2023 - Springer
Abstract Purpose of Review The role of genetics in renal disorders is being increasingly
recognized, prompting the need to describe and address barriers to meaningful …

ProPath: Disease-Specific Protein Language Model for Variant Pathogenicity

H Zhan - arXiv preprint arXiv:2311.03429, 2023 - arxiv.org
Clinical variant classification of pathogenic versus benign genetic variants remains a pivotal
challenge in clinical genetics. Recently, the proposition of protein language models has …

[HTML][HTML] Prevalence of Mendelian kidney disease among patients with high-risk APOL1 genotypes undergoing commercial genetic testing in the United States

R da Silva Francisco Jr, S Punj, L Vincent… - Kidney International …, 2024 - Elsevier
Introduction Among individuals with high-risk APOL1 genotypes, the lifetime risk of
developing kidney failure is∼ 15%, indicating that other genetic variants or non-genetic …

[HTML][HTML] Assessing physician needs for the implementation of personalized care

JG Nestor - Kidney international reports, 2021 - kireports.org
Kidney diseases affect more than 690 million individuals worldwide and are associated with
significant morbidity and mortality. 1 Hereditary nephropathies are genotypically and …

Diseases With Organized Deposits

F Glomerulopathy, I Glomerulopathy… - … : Kidney Diseases E …, 2023 - books.google.com
(Left) Cryoglobulins vary in appearance by EM. The fibrils in the mesangium stained for IgG-
λ in a patient with an IgG-λ cryoglobulin (type I cryoglobulinemia).(Right) In fibronectin …

[HTML][HTML] Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a …

UL Mirshahi, A Bhan, LE Tholen, B Fang… - Kidney International …, 2022 - Elsevier
Introduction Monogenic causes in over 300 kidney-associated genes account for
approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing …

[HTML][HTML] How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside

D Piras, N Lepori, G Cabiddu, A Pani - Journal of Personalized Medicine, 2022 - mdpi.com
Chronic kidney disease (CKD) is considered a major global health problem with high socio-
economic costs: the risk of CKD in individuals with an affected first degree relative has been …

[PDF][PDF] New Associations between Microsatellite Instability Loci and Chronic Kidney Disease Progression

S Mamdouh, H Hassan, M Moharib, A Metwally… - Acta …, 2023 - mattollijournal.org
Background: Chronic kidney disease (CKD) is becoming one of the world's most prevalent
no communicable chronic diseases. The World Health Organization projects CKD to …