Results 81 to 90 of about 42,420 (251)

Contemporary Perspectives on Chronic Renal Disorders

Chronic Diseases and Translational Medicine, Volume 11, Issue 2, Page 89-104, June 2025.
ABSTRACT The prevalence of renal diseases and its associated burden on healthcare have tremendously risen in the past few years. From simple markers assessing kidney function, current renal research delves into understanding the diseases at the cellular and molecular levels and not just at treating, but at improving quality of life, arresting ...
Deenadhayalan Ashok, Poornima Ajay Manjrekar, Bhushan C. Shetty, Sujina S. S, Rukmini Mysore Srikantiah, Sowndarya Kollampare   +5 more
wiley   +1 more source

Progressive renal fibrosis in murine polycystic kidney disease: An immunohistochemical observation [PDF]

, 2000
Progressive renal fibrosis in murine polycystic kidney disease: An immunohistochemical observation.BackgroundThe appearance of interstitial fibrosis in polycystic kidneys is emblematic of progressive disease.
Ban, Shinichi, Nagao, Shizuko, Neilson, Eric G., Okada, Hirokazu, Suzuki, Hiromichi, Takahashi, Hisahide   +5 more
core   +1 more source

Fish mesonephric model of polycystic kidney disease in medaka (Oryzias latipes) pc mutant [PDF]

, 2005
Fish mesonephric model of polycystic kidney disease in medaka (Oryzias latipes) pc mutant.BackgroundPolycystic kidney disease (PKD) is a common hereditary disease. A number of murine and zebrafish mutants have been generated and used for the study of PKD
Fukuta, Katsuhiro, Harada, Tomohiro, Hashimoto, Hisashi, Matsuo, Seiichi, Mochizuki, Emiko, Ozato, Kenjiro, Tada, Tatsuya, Wakamatsu, Yuko, Watanabe, Naoki   +8 more
core   +1 more source

Caroli′s syndrome with autosomal recessive polycystic kidney disease

Saudi Journal of Kidney Diseases and Transplantation, 2014
Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease.
Preeti Shanbag, Prithi Shenoy, Swapnil Bhongade, Syed Ahmed Zaki   +3 more
openaire   +4 more sources

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease [PDF]

Brazilian Journal of Medical and Biological Research, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality.
Menezes, L.F., Onuchic, L.F.
openaire   +6 more sources

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
wiley   +1 more source

The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney [PDF]

, 2012
Polycystic Kidney Disease (PKD) is a genetic condition in which dedifferentiated and highly proliferative epithelial cells form renal cysts and is frequently treated by renal transplantation.
Bertram, John, Deane, James, Johnson, Chad, Ricardo, Sharon D, Verghese, Elizabeth   +4 more
core   +1 more source

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people [PDF]

, 2019
These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology,
Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A, Cetiner, Metin, Dudley, Jan, Emma, Francesco, Gimpel, Charlotte, Harris, Peter C, Harris, Tess, Konrad, Martin, König, Jens, Liebau, Max C, Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison, Oh, Jun, Perrone, Ronald D, Schaefer, Franz, Sinha, Manish D, Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul JD   +23 more
core   +2 more sources

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Medical Image Database, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is an important inherited cause of chronic kidney disease with an estimated incidence of 1 in 20,000 live births [1-3]. Mutations of the PKHD1 (polycystic kidney and hepatic disease 1) gene located on chromosome 6p12, are responsible for the entire spectrum of ARPKD [2].
Maria Sajin, Dumitru Vasile Adrian, Mariana Costache   +2 more
openaire   +2 more sources

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters, Volume 599, Issue 7, Page 1055-1074, April 2025.
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Dawn M. Maynard, Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May C. V. Malicdan   +7 more
wiley   +1 more source