T-box transcription factors regulate many developmental processes. Here we report the cloning and expression analysis of ske-T, a novel sea urchin T-box gene. The distribution of the maternal ske-T transcript is uniform in the egg and early embryonic stages while zygotic expression is restricted to the skeletogenic mesenchyme lineage.
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http://dx.doi.org/10.1016/s0925-4773(01)00470-1 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1St Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China.
Background: Compound inheritance of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases. Such cases are called TBX6-associated congenital scoliosis (TACS). TACS has been reported to have certain common clinical phenotypes.
View Article and Find Full Text PDFMicrosc Microanal
January 2025
Department of Animal Science, Chungbuk National University, Cheongju, Chungbuk 28644, Republic of Korea.
The pluripotency-related T-box family transcription factor TBX3 maintains mESC self-renewal and plays a key role in the development of several tissues, including the heart, mammary glands, limbs, and lungs. However, the role of TBX3 during porcine preimplantation embryo development remains unclear. In our research, TBX3 was knocked down by injecting dsRNA to explore the function of TBX3.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFTransgenic Res
January 2025
Department of Cadre Health Care, Qingdao Municipal Hospital, No.1 Jiaozhou Street, Qingdao, 266011, Shandong, China.
The transcription factor Tbx20 is integral to heart development and plays a significant role in various cardiac diseases. Despite its established importance, the regulatory mechanisms and functional significance of Tbx20 remain incompletely understood. To elucidate these mechanisms, we initially conducted eQTL mapping to identify genetic loci associated with Tbx20 expression in heart tissue from BXD mice.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
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