Mutations in the MID1 gene result in X-linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo-tracheo-esophageal abnormalities, and, at times, neurological, anal, and cardiac defects. MID1 gene abnormalities include missense, nonsense, and splicing mutations, small insertions, small deletions, and complex rearrangements. Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.1703T
Download full-text PDF
Source
http://dx.doi.org/10.1002/ajmg.a.35216 DOI Listing Publication Analysis
Top Keywords
Similar Publications
Involvement of MID-1 COMPLEMENTING ACTIVITY 1 encoding a mechanosensitive ion channel in prehaustorium development of the stem parasitic plant Cuscuta campestris.
Plant Cell Physiol
January 2025
Graduate School of Agriculture, Osaka Metropolitan University, 1-1 Gakuen-Cho, Naka-Ku, Sakai, Osaka 599-8531, Japan.
Parasitic plants pose a substantial threat to agriculture as they attack economically important crops. The stem parasitic plant Cuscuta campestris invades the host's stem with a specialized organ referred to as the haustorium, which absorbs nutrients and water from the host. Initiation of the parasitic process in C.
View Article and Find Full Text PDFMID1-COMPLEMENTING ACTIVITY regulates cell proliferation and development via Ca2+ signaling in Marchantia polymorpha.
Plant Physiol
December 2024
Graduate School of Biostudies, Kyoto University, Kyoto 606-8502, Japan.
MID1-COMPLEMENTING ACTIVITY (MCA) is a land plant-specific, plasma membrane protein, and Ca2+ signaling component that responds to exogenous mechanical stimuli, such as touch, gravity, and hypotonic-osmotic stress, in various plant species. MCA is essential for cell proliferation and differentiation during growth and development in rice (Oryza sativa) and maize (Zea mays). However, the mechanism by which MCA mediates cell proliferation and differentiation via Ca2+ signaling remains unknown.
View Article and Find Full Text PDFExposure to BaA inhibits trophoblast cell invasion and induces miscarriage by regulating the DEC1/ARHGAP5 axis and promoting ubiquitination-mediated degradation of MMP2.
J Hazard Mater
November 2024
Centre for Reproductive Medicine, Renmin Hospital of Wuhan University, Wuhan 430000, China. Electronic address:
Benz[a]anthracene (BaA), a hazardous polycyclic aromatic hydrocarbon classified by the EPA, is a probable reproductive toxicant. Epidemiological studies suggest that BaA exposure may be a risk factor for recurrent miscarriage (RM). However, the underlying mechanisms are not well understood.
View Article and Find Full Text PDFHuman Genetics of Ventricular Septal Defect.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
- The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
- Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
Erdr1 Drives Macrophage Programming via Dynamic Interplay with YAP1 and Mid1.
Immunohorizons
February 2024
Department of Microbiology and Immunology, University of Iowa, IA City, IA.
Erythroid differentiation regulator 1 (Erdr1) is a stress-induced, widely expressed, highly conserved secreted factor found in both humans and mice. Erdr1 is linked with the Hippo-YAP1 signaling. Initially identified as an inducer of hemoglobin synthesis, Erdr1 emerged as a multifunctional protein, especially in immune cells.
View Article and Find Full Text PDFWant 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!