Publications by authors named "M H Fukami"
The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabetes, respectively. Although some patients with variants have been reported to exhibit both neonatal hypoglycemia and young-onset diabetes, the molecular and clinical characteristics of this atypical phenotype remain unknown.
View Article and Find Full Text PDFOver 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated. Furthermore, although PHEX undergoes X chromosome inactivation (XCI), the association between XLH in women with heterozygous PHEX variants and skewed XCI remains unknown.
View Article and Find Full Text PDFTemple 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 PDFArticle Synopsis
- Aromatase excess syndrome (AEXS) is a rare genetic disorder that leads to excessive conversion of androgens to estrogens, causing issues like gynecomastia and delayed puberty in males, and fewer cases reported in females.
- A family study revealed that all four members with AEXS shared a specific genetic deletion, and the long-term use of aromatase inhibitors like letrozole improved symptoms such as accelerated growth and gynecomastia.
- Treatment outcomes varied among family members: significant gains in adult height and reduction of gynecomastia were noted in the male patients, while the female sibling experienced normal puberty development and growth with a combination of therapies.*
Article Synopsis
- Electronic defects in semiconductors are crucial for the development of quantum technologies, but accessing these defects at a single-particle level is challenging.
- A new method has been developed to investigate optically inactive spin defects, allowing researchers to observe semiconductor behavior at the atomic scale.
- By analyzing spin populations of single nitrogen spin defects in diamond using a nearby nitrogen vacancy center, the researchers measured defect ionization, enhancing understanding beyond traditional quantum sensing methods.