[HTML][HTML] The genetics and pathogenesis of CAKUT

CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Congenital disorders of the human urinary tract: recent insights from genetic and molecular studies

AS Woolf, FM Lopes, P Ranjzad, NA Roberts - Frontiers in pediatrics, 2019 - frontiersin.org
The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra.
The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then …

Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis

M Hilwi, K Shulman, I Naroditsky, S Feld… - Cell Death & …, 2024 - nature.com
Unlike the intense research effort devoted to exploring the significance of heparanase in
cancer, very little attention was given to Hpa2, a close homolog of heparanase. Here, we …

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

BK Brar, K Blakemore, C Hertenstein… - Prenatal …, 2024 - Wiley Online Library
Objective Fetal megacystis generally presents as suspected lower urinary tract obstruction
(LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying …

CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations

N Mann, F Kause, EK Henze, A Gharpure… - The American Journal of …, 2019 - cell.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause
of chronic kidney disease in the first three decades of life, and in utero obstruction to urine …

LRIG1, a regulator of stem cell quiescence and a pleiotropic feedback tumor suppressor

Y Ji, R Kumar, A Gokhale, HP Chao, K Rycaj… - Seminars in cancer …, 2022 - Elsevier
LRIG1, leucine-rich repeats and immunoglobulin-like domains protein 1, was discovered
more than 20 years ago and has been shown to be downregulated or lost, and to function as …

Urofacial (ochoa) syndrome: A literature review

S Osorio, ND Rivillas, JA Martinez - Journal of pediatric urology, 2021 - Elsevier
Summary The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted
facial expression (those affected seem crying while smiling) associated with lower urinary …

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

GM Beaman, FM Lopes, A Hofmann, W Roesch… - Frontiers in …, 2022 - frontiersin.org
Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital
disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling …

[HTML][HTML] Role of heparanase 2 (Hpa2) in gastric cancer

J Liu, I Knani, M Gross-Cohen, J Hu, S Wang, L Tang… - Neoplasia, 2021 - Elsevier
Heparanase is highly implicated in tumor metastasis due to its capacity to cleave heparan
sulfate and, consequently, remodel the extracellular matrix underlying epithelial and …

[HTML][HTML] Urofacial syndrome

WG Newman, AS Woolf, GM Beaman, NA Roberts - 2018 - europepmc.org
Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or
childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with …