Publications by authors named "M Cynthia Fukami"
Over 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.
Article Synopsis
- Multi-locus imprinting disturbance (MLID) affects methylation in certain genes and has been identified in about 150 cases of imprinting disorders, with inadequate previous research on this condition aside from one study on specific syndromes.
- In a study of 783 patients, 29 individuals with confirmed epimutations displayed MLID, found in 12% of those with Beckwith-Wiedemann syndrome (BWS) and 5% with Silver-Russell syndrome (SRS), but not in other syndromes.
- Further analysis revealed abnormal methylation patterns and deleterious genetic variants in mothers of MLID patients, with around 50% of MLID patients experiencing neurodevelopmental delays or intellectual disorders, indicating