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| http://dx.doi.org/10.1016/j.jdcr.2024.05.013 | DOI Listing |
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Functional study of three cases with novel TBX19 variants.
Endocrine
January 2025
Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University, Shanghai, China.
Purpose: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians better understand the condition.
Methods: The clinical characteristics of three CIAD children were summarized.
In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.
Biomolecules
December 2024
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.
View Article and Find Full Text PDFA Novel PPARγ Modulator Falcarindiol Mediates ER Stress-Mediated Apoptosis by Regulating NOX4 and Overcomes Radioresistance in Breast Cancer.
Antioxidants (Basel)
December 2024
Department of Preventive Medicine, College of Korean Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
The extract of the rhizome of Makino has potential anti-cancer and anti-inflammatory effects in many diseases, such as cancer. However, the biological functions of falcarindiol (FAD) in breast cancer are not fully understood. This study proved the anti-inflammatory and anti-cancer effects of FAD in breast cancer.
View Article and Find Full Text PDFSequence analysis of the 5' region of the chymotrypsin C (CTRC) gene in chronic pancreatitis.
Pancreatology
January 2025
Center for Gastroenterology, Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary; Hungarian Centre of Excellence for Molecular Medicine - University of Szeged, Translational Pancreatology Research Group, Szeged, Hungary. Electronic address:
Background/objectives: Loss-of-function chymotrypsin C (CTRC) variants increase the risk for chronic pancreatitis (CP) by reducing protective pancreatic CTRC activity. Variants in the 5' upstream region that includes the promoter might affect CTRC expression but have not been investigated to date. The aim of the present study was to address this knowledge gap.
View Article and Find Full Text PDFLethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Clin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
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