Publications by authors named "T J Bhatti"

Article Synopsis
  • - Congenital peribronchial myofibroblastic tumor (CPMT) is a rare benign tumor found in infants, identified by unique histological features, including cartilaginous islands and spindle cells, which can lead to serious complications despite its benign classification.
  • - Genetic analysis reveals that a specific alteration, the EGFR kinase domain duplication (KDD), is a common oncogenic driver in CPMT cases, suggesting that CPMT and similar tumors, like congenital mesoblastic nephromas, may share underlying molecular mechanisms and be related.
  • - Following surgical resection of the tumors, patients demonstrated varied outcomes; while one patient died shortly after surgery, the remaining three were free of recurrence, indicating
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Purpose: One of the strongest genetic associations with myopia is near the GJD2 gene. Recently, this locus was associated with cone-driven electroretinograms (ERGs), with findings highlighting OFF pathway signals specifically. The ERG i-wave is thought to originate in retinal OFF pathways.

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Cancer immunotherapies produce remarkable results in B cell malignancies; however, optimal cell surface targets for many solid cancers remain elusive. Here, we present an integrative proteomic, transcriptomic, and epigenomic analysis of tumor and normal tissues to identify biologically relevant cell surface immunotherapeutic targets for neuroblastoma, an often-fatal childhood cancer. Proteogenomic analyses reveal sixty high-confidence candidate immunotherapeutic targets, and we prioritize delta-like canonical notch ligand 1 (DLK1) for further study.

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Article Synopsis
  • - The study investigates children with congenital hyperinsulinism (HI) who do not respond to diazoxide and lack detectable mutations in their blood, focusing on potential hidden genetic changes in pancreatic tissue.
  • - Through next-generation sequencing on pancreatic specimens from 10 children, four unique GCK mutations were found at low levels, indicating that these mutations may be responsible for their HI, despite not being detectable in their blood samples.
  • - The findings suggest that post-zygotic somatic mutations in the GCK gene contribute to certain cases of non-focal diazoxide-unresponsive hyperinsulinism, shedding light on the complexity of genetic causes in this condition.
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Background: An estimated 6.7 million persons are living with dementia in the United States, a number expected to double by 2060. Persons experiencing moderate to severe dementia are 4 to 5 times more likely to fall than those without dementia, due to agitation and unsteady gait.

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