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hydronephrosis/tyrosine
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14 resultados
Sprouty1 Controls Genitourinary Development via its N-Terminal Tyrosine.
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BACKGROUND
Studies in mice suggest that perturbations of the GDNF-Ret signaling pathway are a major genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT). Mutations in Sprouty1, an intracellular Ret inhibitor, results in supernumerary kidneys, megaureters,Altered anoctamin-1 and tyrosine phosphorylation in congenital ureteropelvic junction obstruction.
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PURPOSE
Ureteropelvic junction (UPJ) obstruction is the most common cause of congenital hydronephrosis in children. The pathophysiology of UPJ obstruction and the exact mechanism of pelviureteral peristalsis are poorly understood. Anoctamin-1 (ANO1), a Ca2+-activatedNon-muscle myosin II deletion in the developing kidney causes ureter-bladder misconnection and apical extrusion of the nephric duct lineage epithelia.
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In kidney development, connection of the nephric duct (ND) to the cloaca and subsequent sprouting of the ureteric bud (UB) from the ND are important for urinary exit tract formation. Although the roles of Ret signaling are well established, it remains unclear how intracellular cytoskeletal proteins
Okamoto syndrome in a girl of Caucasian origin.
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We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital
Protein Kinase 2β Is Expressed in Neural Crest-Derived Urinary Pacemaker Cells and Required for Pyeloureteric Contraction.
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Nonobstructive hydronephrosis, defined as dilatation of the renal pelvis with or without dilatation of the ureter, is the most common antenatal abnormality detected by fetal ultrasound. Yet, the etiology of nonobstructive hydronephrosis is poorly defined. We previously demonstrated that defective
Nephric duct insertion requires EphA4/EphA7 signaling from the pericloacal mesenchyme.
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The vesico-ureteric junction (VUJ) forms through a complex developmental program that connects the primordium of the upper urinary tract [the nephric duct (ND)] with that of the lower urinary tract (the cloaca). The signals that orchestrate the various tissue interactions in this program are poorly
Renin-angiotensin system-growth factor cross-talk: a novel mechanism for ureteric bud morphogenesis.
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The renin-angiotensin system (RAS) plays a critical role in kidney development. Mutations in the genes encoding components of the RAS cause a spectrum of congenital abnormalities of the kidney and renal collecting system, ranging from hypoplasia of the renal medulla and hydronephrosis in mice to
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.
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Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in
A 20-year-old female with hemoptysis and high blood pressure: An unusual case of papillary renal cell carcinoma.
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METHODS
Female, 20 FINAL DIAGNOSIS: Papillary renal cell carcinoma Symptoms: Hemopthysis Medication: Sutent Clinical Procedure: CT guided biopsy Specialty: Oncology.
OBJECTIVE
Rare disease.
BACKGROUND
Papillary renal cell carcinoma (PRCC) is a rare disease and is a carcinoma of the renal tubular
Multimodal Eph/Ephrin signaling controls several phases of urogenital development.
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A substantial portion of the human population is affected by urogenital birth defects resulting from a failure in ureter development. Although recent research suggests roles for several genes in facilitating the ureter/bladder connection, the underlying molecular mechanisms remain poorly understood.
Angiotensin II type 1 receptor-EGF receptor cross-talk regulates ureteric bud branching morphogenesis.
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Angiotensinogen-, angiotensin-converting enzyme-, and angiotensin II (Ang II) type 1 receptor (AT(1)R)-deficient mice exhibit a dilated renal pelvis (hydronephrosis) and a small papilla. These abnormalities have been attributed to impaired development of the ureteral and pelvic smooth muscle.
A new role for the renin-angiotensin system in the development of the ureteric bud and renal collecting system.
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The renin-angiotensin system (RAS) plays a critical role in kidney development. Mutations in the genes encoding components of the RAS or pharmacological inhibition of RAS in mice or humans cause a spectrum of congenital abnormalities of the kidney and urinary tract (CAKUT). The observed defects
Effects of benzalkonium chloride treatment on the intramural innervation of the upper urinary tract.
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OBJECTIVE
To establish a model for investigating the pathophysiology of pelvi-ureteric junction (PUJ) obstruction, using benzalkonium chloride (BCI) treatment of the upper urinary tract of rabbits, and thus further elucidate the pathophysiology of PUJ obstruction, the most common urinary tract
Adam10 mediates the choice between principal cells and intercalated cells in the kidney.
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A disintegrin and metalloproteinase domain 10 (Adam10), a member of the ADAM family of cell membrane-anchored proteins, has been linked to the regulation of the Notch, EGF, E-cadherin, and other signaling pathways. However, it is unclear what role Adam10 has in the kidney in vivo. In this study, we
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