Publications by authors named "K Hinderhofer"
Fragile X mental retardation protein (FMRP) is a translational repressor encoded by . It targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa cell (GC) function and follicle development. However, whether this interaction affects folliculogenesis remains unclear.
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- * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
- * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene () that lead to deficiency of GCDH protein. Without treatment, this enzyme defect causes a neurological phenotype characterized by movement disorder and cognitive impairment. Based on a comprehensive literature search, we established a large dataset of variants using the Leiden Open Variation Database (LOVD) to summarize the known genotypes and the clinical and biochemical phenotypes associated with GA-1.
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- The new European guidelines for pulmonary hypertension provide detailed information on genetic testing and counseling specifically for pulmonary arterial hypertension patients.
- They emphasize the need for clinical screening of healthy mutation carriers and recommend genetic testing for patients suspected of having pulmonary veno-occlusive disease.
- The guidelines also suggest future developments in treatments, highlighting novel approaches like Sotatercept and advancements in targeting ion channels.
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- Iron deficiency is prevalent among patients with idiopathic and heritable pulmonary arterial hypertension (I/HPAH), with 84% needing iron supplementation.
- This study investigated the regulation of the iron hormone hepcidin in I/HPAH patients, focusing on those with and without pathogenic variants in the relevant gene, in comparison to healthy controls.
- Results showed hepcidin levels were similar across groups and indicated that iron regulation in I/HPAH patients is normal, with iron deficiency occurring independently of any genetic variants.