Cell biology and pathology of podocytes

A Greka, P Mundel - Annual review of physiology, 2012 - annualreviews.org
As an integral member of the filtration barrier in the kidney glomerulus, the podocyte is in a
unique geographical position: It is exposed to chemical signals from the urinary space …

Hypertension and kidneys: unraveling complex molecular mechanisms underlying hypertensive renal damage

S Mennuni, S Rubattu, G Pierelli, G Tocci… - Journal of human …, 2014 - nature.com
Kidney damage represents a frequent event in the course of hypertension, ranging from a
benign to a malignant form of nephropathy depending on several factors, that is, individual …

Single-cell profiling of AKI in a murine model reveals novel transcriptional signatures, profibrotic phenotype, and epithelial-to-stromal crosstalk

V Rudman-Melnick, M Adam, A Potter… - Journal of the …, 2020 - journals.lww.com
Background Current management of AKI, a potentially fatal disorder that can also initiate or
exacerbate CKD, is merely supportive. Therefore, deeper understanding of the molecular …

MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis

JB Kopp, MW Smith, GW Nelson, RC Johnson… - Nature …, 2008 - nature.com
The increased burden of chronic kidney and end-stage kidney diseases (ESKD) in
populations of African ancestry has been largely unexplained. To identify genetic variants …

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable …

M Seri, A Pecci, F Di Bari, R Cusano, M Savino… - Medicine, 2003 - journals.lww.com
Abstract May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein
syndrome are autosomal dominant macrothrombocytopenias distinguished by different …

APOL1-associated nephropathy: a key contributor to racial disparities in CKD

BI Freedman, S Limou, L Ma, JB Kopp - American Journal of Kidney …, 2018 - Elsevier
Genetic methodologies are improving our understanding of the pathophysiology in diverse
diseases. Breakthroughs have been particularly impressive in nephrology, for which marked …

MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

A Pecci, C Klersy, P Gresele, KJD Lee… - Human …, 2014 - Wiley Online Library
ABSTRACT MYH 9‐related disease (MYH 9‐RD) is a rare autosomal‐dominant disorder
caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC‐IIA) …

Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias

CL Balduini, A Pecci, A Savoia - British journal of haematology, 2011 - Wiley Online Library
Summary MYH9‐related disease (MYH9‐RD) is one of the most frequent forms of inherited
thrombocytopenia. It is transmitted in an autosomal dominant fashion and derives from …

APOL1 localization in normal kidney and nondiabetic kidney disease

SM Madhavan, JF O'Toole… - Journal of the …, 2011 - journals.lww.com
In patients of African ancestry, genetic variants in APOL1, which encodes apolipoprotein L1,
associate with the nondiabetic kidney diseases, focal segmental glomerulosclerosis (FSGS) …

MYH9-related platelet disorders

K Althaus, A Greinacher - Seminars in thrombosis and …, 2009 - thieme-connect.com
ABSTRACT Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of
inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain …