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Clinical Genetic Testing in Children with Kidney Disease [PDF]

open access: yesChildhood Kidney Diseases, 2021
Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children.
Eungu Kang, Beom Hee Lee
doaj   +3 more sources

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis [PDF]

open access: yesFrontiers in Medicine, 2022
BackgroundGenetic kidney disease is a major cause of morbidity and mortality in neonates and end-stage renal disease (ESRD) in children and adolescents. Genetic diagnosis provides key information for early identification of congenital kidney disease and ...
Min Xiao   +11 more
doaj   +2 more sources

Coexisting genetic kidney disease explains many cases of ‘familial’ IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits [PDF]

open access: yesFrontiers in Medicine
BackgroundOne in seven people with IgA nephropathy has another apparently-affected family member. This study examined how often biopsy-proven familial and sporadic IgA nephropathy were associated with genetic kidney disease.MethodsEleven unrelated people
YuXin Li   +15 more
doaj   +2 more sources

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease [PDF]

open access: yesBMC Nephrology, 2018
Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised.
Christine Gast   +13 more
doaj   +2 more sources

Genetic Kidney Disease in Southern Tasmania [PDF]

open access: yesKidney International Reports, 2020
Gabrielle Brailsford   +6 more
doaj   +2 more sources

Robo2 and Gen1 Coregulate Ureteric Budding by Activating the MAPK/ERK Signaling Pathway in Mice

open access: yesFrontiers in Medicine, 2022
Congenital anomalies of the kidney and urinary tract (CAKUT) are some of the most common developmental defects and have a complicated etiology, indicating an interaction of (epi-) genetic and environmental factors.
Yaxin Li   +8 more
doaj   +1 more source

Intrauterine Low-Protein Diet Exacerbates Abnormal Development of the Urinary System in Gen1-Mutant Mice

open access: yesKidney Diseases, 2021
Background: Gen1 mutation can cause various phenotypes of congenital anomaly of the kidney and urinary tract (CAKUT). An intrauterine low-protein isocaloric diet can also cause CAKUT phenotypes in offspring.
Minghui Yu   +11 more
doaj   +1 more source

Overexpression of Long Non-coding RNA 4933425B07Rik Causes Urinary Malformations in Mice

open access: yesFrontiers in Cell and Developmental Biology, 2021
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common birth defect and is the leading cause of end-stage renal disease in children. The etiology of CAKUT is complex and includes mainly genetic and environmental factors.
Lihong Tan   +12 more
doaj   +1 more source

LINC00467 Is Upregulated by DNA Copy Number Amplification and Hypomethylation and Shows ceRNA Potential in Lung Adenocarcinoma

open access: yesFrontiers in Endocrinology, 2022
Lung adenocarcinoma (LUAD) is the most common histological lung cancer, and it is the leading cause of cancer-related deaths worldwide. Long noncoding RNAs (lncRNAs) have been implicated in tumorigenesis.
Wen Wang   +7 more
doaj   +1 more source

Overexpression of long noncoding RNA 4933425B07Rik leads to renal hypoplasia by inactivating Wnt/β-catenin signaling pathway

open access: yesFrontiers in Cell and Developmental Biology, 2023
Congenital anomalies of the kidney and urinary tract (CAKUT) is a general term for a class of diseases that are mostly caused by intrauterine genetic development limitation.
Shanshan Xue   +11 more
doaj   +1 more source

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