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Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.
Clin Genet
January 2025
Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.
View Article and Find Full Text PDFMetabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.
Transl Pediatr
December 2024
Department of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.
Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy.
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Sci Rep
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Faculty of Medicine, Department of Obstetrics and Gynaecology, Inonü University, Malatya, Turkey.
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy and is both phenotypically and genotypically heterogeneous. A large number of genetic variants have been found in different genes, so far. Based on the literature, we identified 7 genes and aimed to find new causative variants in these genes.
View Article and Find Full Text PDFAmelioration of a von Willebrand disease type 2B phenotype in vivo upon treatment with allele-selective siRNAs.
Blood Adv
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Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Treatment options for the bleeding disorder von Willebrand disease type 2B (VWD2B) are insufficient and fail to address the negative effects of circulating mutant von Willebrand factor (VWF). The dominant-negative nature of VWD2B makes functionally defective VWF an interesting therapeutic target. Previous in vitro studies have demonstrated the feasibility of allele-selective silencing of mutant VWF using small interfering RNAs (siRNAs) targeting common single nucleotide polymorphisms (SNPs) in the human VWF gene, an approach that can be applied irrespective of the disease-causing VWF mutation.
View Article and Find Full Text PDFThe FBXO45-GEF-H1 axis controls germinal center formation and B-cell lymphomagenesis.
Cancer Discov
January 2025
Memorial Sloan Kettering Cancer Center, New York, NY, United States.
The role of ubiquitin-mediated degradation mechanisms in the pathogenesis of diffuse large B cell (DLBCL) and follicular lymphoma (FL) is not completely understood. We show that conditional deletion of the E3 ubiquitin ligase Fbxo45 in germinal center B-cells results in B-cell lymphomagenesis in homozygous (100%) and heterozygous (48%) mice. Mechanistically, FBXO45 targets the RHO guanine exchange factor ARHGEF2/GEF-H1 for ubiquitin-mediated degradation.
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