Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Pathogenic variants in SHROOM3 associated with hemifacial microsomia.
J Hum Genet
January 2025
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, China.
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating the need to discover more pathogenic genes. Association tests demonstrated an association between common variants in SHROOM3 and HFM (P = 1.
View Article and Find Full Text PDFGlucose Metabolic Abnormalities and Their Interaction With Defective Phosphate Homeostasis in Tumor-induced Osteomalacia.
J Clin Endocrinol Metab
January 2025
Department of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Dongcheng District, National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Context: Phosphate homeostasis was compromised in tumor-induced osteomalacia (TIO) due to increased fibroblast growth factor 23 (FGF23) secretion. Nevertheless, the glucose metabolic profile in TIO patients has not been investigated.
Objectives: This work aimed to clarify the glucose metabolic profiles in TIO patients and explore their interaction with impaired phosphate homeostasis.
Functional and Structural Changes in the Inner Ear and Cochlear Hair Cell Loss Induced by Hypergravity.
Int J Mol Sci
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Inha University, Incheon 22332, Republic of Korea.
Gravitational changes have been shown to cause significant abnormalities in various body systems, including the cardiovascular, immune, vestibular, and musculoskeletal systems. While numerous studies have examined the response of the vestibular system to gravitational stimulation, research on functional changes in the peripheral inner ear remains limited. The inner ear comprises two closely related structures: the vestibule and cochlea.
View Article and Find Full Text PDFKnockout of Causes Inner Ear Developmental Defects in Zebrafish.
Biomedicines
December 2024
Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, 1037 Luoyu Road, Wuhan 430074, China.
: Alternative splicing is essential for the physiological and pathological development of the inner ear. Disruptions in this process can result in both syndromic and non-syndromic forms of hearing loss. DHX38, a DEAH box RNA helicase, is integral to pre-mRNA splicing regulation and plays critical roles in development, cell differentiation, and stem cell maintenance.
View Article and Find Full Text PDFCLINICAL EFFICACY OF DIFFERENT SURGICAL METHODS IN CONGENITAL PREAURICULAR FISTULA SURGERY.
Georgian Med News
November 2024
Department of Otolaryngology, Jiaozhou Central Hospital of Qingdao, Shandong, China.
Objective: To evaluate the clinical efficacy of different surgical methods in congenital preauricular fistula surgery.
Methods: 60 patients with congenital preauricular fistula were selected and randomly divided into a microscope group of 30 cases and a macroscopic group of 30 cases. The microscope team used the fistula separation method to perform surgery along with the fistula opening.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!