Publications by authors named "William Marston Linehan"

Article Synopsis
  • * Researchers conducted studies on patients with HLRCC symptoms but without known FH mutations, finding significant reductions in FH enzyme activity and protein levels, despite normal gene expression.
  • * Analysis revealed a specific intronic variant in the FH gene that leads to altered mRNA splicing and a shortened protein, underscoring the importance of comprehensive genetic testing to identify non-coding pathogenic variants.
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Background: von Hippel-Lindau syndrome (VHL) is an autosomal dominant hereditary syndrome with an increased predisposition of developing numerous cysts and tumors, almost exclusively clear cell renal cell carcinoma (ccRCC). Considering the lifelong surveillance in such patients to monitor the disease, patients with VHL are preferentially imaged using MRI to eliminate radiation exposure.

Purpose: Segmentation of kidney and tumor structures on MRI in VHL patients is useful in lesion characterization (e.

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The ccA and ccB molecular subtypes of clear cell renal cell carcinoma (ccRCC) have well-characterized prognostic relevance. However, it is not known whether they possess distinct etiologies. We investigated the relationships between these subtypes and RCC risk factors within a case-control study conducted in Eastern Europe.

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Renal medullary carcinoma, a highly aggressive tumor mainly occurring in patients with sickle cell hemoglobinopathy, is characterized by advanced stage at the time of presentation and poor response to treatment. Currently, the pathogenesis of this tumor is not well understood. In this study, the clinicopathologic features and molecular changes of 15 renal medullary carcinoma cases were evaluated.

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome in which affected individuals are predisposed to the development of multiple leiomyomas of the skin and uterus and aggressive forms of kidney cancer. Affected individuals harbor a germline heterozygous loss-of-function mutation of the fumarate hydratase (FH) gene. Uterine leiomyomas are present in up to 77% of women with this syndrome.

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A new trimethoxycinnamoyl-2-pyrrolinone alkaloid, langkamide (1), along with the known compounds piplartine (2) and 3,4,5-trimethoxycinnamic acid (3) were isolated from the roots and stems of the shrub Piper sarmentosum ROXB. The structures were established by spectroscopic analyses and comparison of their spectral data with values reported in the literature. The compounds were tested for their ability to modulate hypoxia inducible factor-2 (HIF-2) transcription activity and all three showed HIF-2 inhibitory activity with EC₅₀ values of 14.

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Objective: To evaluate the outcomes and timing of intervention for adrenal-sparing surgery in patients left with a solitary adrenal remnant after bilateral adrenal surgeries.

Patients And Methods: Patients were included in the study if they had undergone bilateral adrenal surgery as a treatment for phaeochromocytoma and were left with a solitary adrenal remnant. Perioperative, functional and oncological outcomes were evaluated in 21 patients who met the inclusion criteria.

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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant familial syndrome characterized by the development of cutaneous and uterine leiomyomas as well as renal tumors. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.

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