Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 5 of 5 for “"CAKUT"”.
-
A Novel Role For Dyrk1A In Kidney Development
… anomalies of the kidney and urinary tract (CAKUT) are a leading cause of pediatric kidney failure and encompass a wide range of structural malformations resulting from defects in morphogenesis. CAKUT occur in ∼1/500 live births and with an average wait time of 3-5 years for a kidney …
-
The Novel Role of Dnmbp In Kidney Development
… anomalies of the kidney and urinary tract (CAKUT) accounts for nearly one-fourth of all birth defects and more than 40% of pediatric end-stage renal disease, yet only 10-20% of CAKUT cases have a known monogenetic cause. Human kidneys are composed of up to a million epithelial tubules called …
-
Next-Generation Sequencing for New Gene Identification and for Diagnosis in Steroid-Resistant Nephrotic Syndrome
… Anomalies of the Kidney and the Urinary Tract (CAKUT)-associated genes, which were not previously associated with podocytopathies. LP variants in CAKUT-associated and podocytopathy-associated genes frequently combined together. Finally, possibly pathogenic variants in EPB41L45, a candidate gene …
-
Exom-Sequenzierung bei unklarer chronischer Niereninsuffizienz anhand definierter renaler Biopsiemerkmale
… und kongenitale Nierenanomalien (CAKUT). Die dabei detektierten genetischen Varianten wurden auf mögliche Pathogenität anhand der ACMG-Klassifizierung final bewertet. Daraus resultierten bei vier Probanden insgesamt fünf wahrscheinlich pathogene Varianten der ACMG-Klasse 4 und 5 …
-
Roles in Retinoid Signaling in the Lower Urinary Tract
… abnormalities of the kidney and urinary tract (CAKUT) characterize a range of lower urinary tract defects such as kidney and ureter agenesis, hydronephrosis, and vesicoureteral reflux. Development of the lower urinary tract, which consists of the kidneys, ureters, bladder, and urethra, is …