Publications by authors named "R Faridi"

Background: Neuroendocrine prostate cancer (NEPC) encompasses pure NEPC and tumors with mixed adenocarcinoma and neuroendocrine histology. While NEPC is thought to confer a poor prognosis, outcome data are sparse, making risk stratification and treatment decisions difficult for clinicians.

Methods: This retrospective study identified patients with morphological and/or immunohistochemical NEPC features on pathological review of high-grade prostate cancer cases.

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Article Synopsis
  • Mutations in the TBC1D24 gene are linked to various conditions like deafness, epilepsy, and DOORS syndrome, but how these mutations lead to different health issues is still unclear.
  • Researchers conducted a study to identify new protein partners of TBC1D24 and discovered that it interacts with KIBRA, a scaffold protein involved in cognitive functions and the Hippo signaling pathway.
  • Specific mutations in the TLDc domain of TBC1D24 can disrupt its interaction with KIBRA, revealing a potential link between TBC1D24 and epilepsy, suggesting that this interaction is crucial for reducing epilepsy risk.
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Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani family segregating nonsyndromic deafness in two sibships were studied using microarrays and exome sequencing.

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A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

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Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.

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