A variant of type B blood was found in three members of a family from El Salvador. In two members, both genotype BO, the blood and saliva had the characteristics of the phenotype Be1 . In the third member, genotype A2B, the red cell B antigen was stronger than in his BO genotype relatives. Thus, in this family, the presence of the A2 gene appeared to enhance the expression of the B gene.
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http://dx.doi.org/10.1046/j.1537-2995.1984.24384225036.x | DOI Listing |
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFJ Neurol Surg B Skull Base
February 2025
Department of Neurosurgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, United States.
The abducens nerve has a long, serpentine subarachnoid course with complex topographical relationships, rendering abducens nerve palsy the most common ocular motor cranial nerve palsy in adults and second most common in pediatric patients, with anatomical variants reported in the literature. Preoperative awareness of abducens nerve variant anatomy may help prevent inadvertent intraoperative injury. This study is a case report with a review of the abducens nerve anatomy and variants.
View Article and Find Full Text PDFHereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFPediatr Cardiol
January 2025
Pediatric Intensive Care Department, Wolfson Medical Center, Holon, Israel.
Research establishing factors associated with duration of mechanical ventilation after Tetralogy of Fallot repair, is mainly based on population presenting at early infancy. There are fewer reports regarding repair after infancy, during childhood and preadolescence. To compare two groups of late TOF repair based on post-operative invasive mechanical ventilation duration and explore associations with pre-operative clinical markers of severity of right ventricular outflow tract obstruction.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
Wheat Genetics Resource Center, Kansas State University, Manhattan, KS, USA.
Loss-of-function mutations induced by CRISPR-Cas9 in the TaGS3 gene homoeologs show non-additive dosage-dependent effects on grain size and weight and have potential utility for increasing grain yield in wheat. The grain size in cereals is one of the component traits contributing to yield. Previous studies showed that loss-of-function (LOF) mutations in GS3, encoding Gγ subunit of the multimeric G protein complex, increase grain size and weight in rice.
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