Tanabe N

No ORCID on file · 2 papers in corpus · active 2021-2025
2025
Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11.
Molecular cytogenetics ·doi:10.1186/s13039-025-00710-x

Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in STK11 (LKB1), which encodes serine/threonine …

2021
A case of pulmonary arterial hypertension with V/Q SPECT/CT that showed localized uptake of 99mTc just below the pleura and a unique distribution.
Respirology case reports ·doi:10.1002/rcr2.847

Pulmonary hypertension (PH) is a life-threatening disorder, which originates from various aetiologies. Ventilation-perfusion (V/Q) scanning is commonly used to evaluate the differential diagnosis of PH. Meanwhile, previous studies have show…