Publications by authors named "M A Hajianpour"
Article Synopsis
- Glutamine synthetase (GS), encoded by the GLUL gene, converts glutamate to glutamine and plays a crucial role in neurotransmitter production and ammonia detoxification in the brain.
- *Variations in the GLUL gene can lead to severe developmental delays and neurological disorders in infants due to improper regulation of GS levels.
- *Research indicates that certain genetic mutations can result in a stable but non-regulated form of GS, highlighting the need for careful control of glutamine metabolism during brain development.
Article Synopsis
- * Researchers found 23 specific changes in a gene related to this complex that affect 38 people, leading to problems with brain cell growth and learning in animals.
- * By targeting certain stress response proteins, they discovered ways to help fix some of the immune issues caused by these disorders, leading to new ideas for treatments.
Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making. We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.
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- Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
- EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
- The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
Treatment of Selected Distal Radius Fractures with Nonbridging External Fixation.
J Long Term Eff Med Implants
October 2021
A nonbridging external fixation (NBX) system with 1.6-mm diameter pins provided excellent stability for distal radius fractures in cadavers. For the present study, all patients with distal radius fractures were seen by the surgeon authors.
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