Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Renal regulation of mammalian water homeostasis is mediated by the aquaporin-1 (AQP1) water channel, which is expressed in the apical and basolateral membranes of proximal tubules and descending limbs of Henle, and aquaporin-2 (AQP2), which is redistributed from intracellular vesicles to the apical membrane (AM) of collecting duct cells with vasopressin. In transfected Madin-Darby canine kidney cells, AQP1 and AQP2 are regulated similarly, which indicates that routing elements reside in their primary sequences. We studied the role of the AQP2 COOH terminus in apical routing and AQP2 shuttling. An AQP1 chimera (AQP1 with an AQP2 tail: AQP1/2-N220) was located only in the AM independent of forskolin treatment. Forskolin increased the apical expression of AQP1 and AQP1/2-N220 less than twofold; that of AQP2 increased more than fourfold with concomitant changes in osmotic water permeabilities. The dimeric AQP2 tail coupled to placental alkaline phosphatase (AQP2-Plap) was retained in intracellular vesicles different from those of homotetrameric wild-type AQP2; the same protein without the AQP2 tail (TMR-Plap) was only expressed in the AM. The study shows that the AQP2 COOH tail is necessary but not sufficient for routing to the AM and suggests that other parts of AQP2 are needed for AQP2 accumulation in intracellular vesicles.
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PMID:Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane. 1178 48

We encountered a rare case of neurohypophyseal germinoma with a prominent granulomatous reaction, which invaded the right cavernous sinus. The neuroimaging and histopathology features in this case were unique, distinguishing it from other types of suprasellar lesions. A 13-year-old boy presented with loss of appetite and polyuria; both symptoms were present for 1 year, and headache, general fatigue and blurred vision present for the prior 2 months. On admission, neurological examination indicated bitemporal hemianopsia and optic atrophy. Endocrinological exam showed panhypopituitarism. Tumor markers such as alpha-fetoprotein, human growth hormone, carcinoembryonic antigen, and placental alkaline phosphatase were negative. Brain CT revealed a suprasellar tumor with calcification. MR T(1)-weighted and T(2)-weighted images showed the tumor to be isointense to normal brain parenchyma and to be enhanced densely. The tumor also involved the right cavernous sinus, so that a biopsy was performed by the transsphenoidal approach. On pathologic examination of the specimen, typical large tumor cells with lymphocytic cell infiltration and prominent granulomatous reaction were observed. Neurohypophyseal granulomatous germinoma was diagnosed. Radiotherapy was performed with a total dose of 51 Gy and the tumor shrank remarkably. The patient returned to school under hormone replacement therapy.
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PMID:Neurohypophyseal granulomatous germinoma invading the right cavernous sinus: case report and review of the literature. 1762 46

An 11-year-old girl presented with a rare case of neurohypophyseal germinoma manifesting as cavernous sinus syndrome with left abducens nerve palsy. Magnetic resonance (MR) imaging showed a mass located in the left cavernous sinus. Biopsy revealed an inflammatory reaction with lymphocytic infiltration. Postoperative MR imaging showed regression of the mass. Her eye movements were also restored. However, after 5 months, she developed right oculomotor and abducens nerve palsy, and MR imaging showed a large suprasellar mass invading the bilateral cavernous sinuses. The transcranial biopsy sample showed positive staining for placental alkaline phosphatase and c-kit, and the diagnosis of germinoma was confirmed. Chemotherapy and radiotherapy were administered, and the patient has been in complete remission for over 4 years.
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PMID:Intracranial germinoma manifesting as cavernous sinus syndrome--case report. 2309 71

We present a pediatric case of neurohypophyseal germinoma with a perifocal inflammatory reaction (PIR) with volume fluctuation caused by diagnostic radiation-induced regression (DRIR). On-target biopsy failed to confirm the histology because PIR hardly contained any germinoma cells. DRIR-related fluctuation of the tumor volume disguised germinoma as inflammation. We analyzed the cerebrospinal fluid (CSF) and detected a high level of placental alkaline phosphatase (PLAP), which demonstrated the neurohypophyseal lesion to be germinoma and brought the patient from successful radiochemotherapy up to complete remission. PIR adjacent to the germinoma (PIRAG) disappeared completely following radiochemotherapy, although it contained almost no germinoma cells. Examination of the CSF-PLAP level can complement the diagnosis of germinoma and will decrease the risk of misdiagnosis. Neurosurgeons should keep in mind PIRAG, DRIR, and the diagnostic value of CSF-PLAP when germinoma is suspected.
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PMID:Perifocal Inflammatory Reaction with Volume Fluctuation Caused by Diagnostic Radiation-Induced Regression in Germinoma Makes Histological Diagnosis Difficult despite Its Disappearance following Treatment: A Significant Pitfall and Countermeasures to It. 2783 56