Publications by authors named "Y Naiki"
Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.
J Clin Endocrinol Metab
December 2024
Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.
View Article and Find Full Text PDFContext: Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic variants (PVs) in MECP2 have been reported to be associated with CPP.
Objective: We aimed to clarify the contribution of (epi)genetic abnormalities to CPP and clinical and hormonal features in each etiology.
Article Synopsis
- Scientists couldn't find special growth genes for men, but they studied why men are usually taller than women.
- They discovered that a growth gene called SHOX was more active in boys than in girls, especially in their cartilage.
- This study suggests that the differences in height between boys and girls might be linked to how this SHOX gene is controlled differently by their DNA.
A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency.
Clin Pediatr Endocrinol
November 2023
Article Synopsis
- - The case report discusses a 13-year-old male with TBG-CD who had an asymptomatic follicular adenoma that unexpectedly shrank without treatment.
- - Despite low levels of thyroxin and TBG, the patient presented with a swollen thyroid gland and a nodule detected through ultrasonography.
- - Genetic testing confirmed a variant leading to TBG deficiency; the findings suggest that monitoring via ultrasound may be sufficient for similar cases rather than immediate treatment.
Article Synopsis
- DNA polymerase epsilon (Pol ε) is crucial for DNA replication and its genetic defects are linked to immunodeficiency syndromes; however, its impact on blood cell formation (haematopoiesis) is unclear.
- Researchers discovered specific genetic variants in siblings with severe congenital anemia, which demonstrated atypical symptoms compared to typical cases like Diamond-Blackfan anemia.
- Further studies using patient-derived stem cells and medaka fish models revealed reduced function of Pol ε, leading to blood cell deficiencies and enhancing our understanding of its role in haematopoiesis.