Publications by authors named "T Hirschmugl"
Microtubules are cytoskeletal elements that play key roles throughout the different steps of sperm development. As an integral part of the sperm flagellum, the molecular machine that generates sperm motility, microtubules are also essential for the progressive swimming of sperm to the oocyte, which is a prerequisite for fertilisation. Given the central role of microtubules in all steps of spermatogenesis, their functions need to be tightly controlled.
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- G6PC3 deficiency leads to severe congenital neutropenia, recurrent infections, and various physical malformations due to issues with glucose processing and increased cellular stress.
- A review of patients diagnosed with this condition in Mexico and a search of recent literature found 94 cases reported globally, with notable syndromic features such as atrial septal defects and prominent veins.
- The findings aim to improve understanding of the genetic and clinical characteristics of G6PC3 deficiency, aiding in better treatment approaches and outcomes.
Article Synopsis
- An increasing number of NFKB1 variants have been linked to diverse immune system issues in patients, prompting a comprehensive study of these mutations.
- The study evaluated 231 individuals with various NFKB1 mutations, identifying 56 as pathogenic, resulting in primary immunodeficiency and other immune-related problems like autoimmunity and malignancy.
- The findings highlight the need for awareness among medical professionals about this condition's complexity, recommending treatments like immunoglobulin replacement, immunosuppressants, and considering stem cell transplantation.
The endothelium functions as a semipermeable barrier regulating fluid homeostasis, nutrient, and gas supply to the tissue. Endothelial permeability is increased in several pathological conditions including inflammation and tumors; despite its clinical relevance, however, there are no specific therapies preventing vascular leakage. Here, we show that endothelial cell-restricted ablation of BRAF, a kinase frequently activated in cancer, prevents vascular leaking as well metastatic spread.
View Article and Find Full Text PDFEstablishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by classical Sanger sequencing challenging. Instead of exome sequencing, we established a systematic next generation sequencing-based panel targeting 292 candidate genes and screened 38 consecutive patients for disease-associated mutations.
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