Protein phosphatase magnesium-dependent 1 delta (PPM1D) terminates the cell cycle checkpoint by dephosphorylating the tumour suppressor protein p53. By targeting additional substrates at chromatin, PPM1D contributes to the control of DNA damage response and DNA repair. Using proximity biotinylation followed by proteomic analysis, we identified a novel interaction between PPM1D and the shelterin complex that…
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Category: Genetic disorders
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5’UTRs by Alexandra Filatova
An increasing number of studies emphasize the role of non-coding variants in the development of hereditary diseases. However, the interpretation of such variants in clinical genetic testing still remains a critical challenge due to poor knowledge of their pathogenicity mechanisms. It was previously shown that variants in 5′-untranslated regions (5’UTRs) can lead to hereditary diseases…
A toolbox for systematic discovery of stable and transient protein interactors in baker’s yeast by Emma J Fenech
Identification of both stable and transient interactions is essential for understanding protein function and regulation. While assessing stable interactions is more straightforward, capturing transient ones is challenging. In recent years, sophisticated tools have emerged to improve transient interactor discovery, with many harnessing the power of evolved biotin ligases for proximity labelling. However, biotinylation-based methods have…
Otolith Mineralogy Affects Otolith Shape Asymmetry: A Comparison of Hatchery and Natural Origin Coho Salmon (Oncorhynchus kisutch) by Micah J Quindazzi
Many aspects of natural and hatchery origin salmonid genetics, physiology, behaviour, anatomy, and life histories have been compared due to concerns about what effects domestication and hatchery rearing conditions have on fitness. Genetic and environmental stressors associated with hatchery rearing could cause greater developmental instability, and therefore a higher degree of fluctuating asymmetry in various…
VEGF gene polymorphisms in Iranian patients with intracranial glioblastoma by Sara Hanaei
CONCLUSIONS: Polymorphisms of VEGF could potentially play a role in pathogenesis of GBM, as the allele and genotype distributions of rs3025039 and rs2010963 SNPs were significantly associated with GBM occurrence.
Intracardiac paraganglioma with a cough as the first symptom by Cao Jingyi
CONCLUSIONS: Pheochromocytomas and paragangliomas (PPGLs) are a kind of neuroendocrine tumors. PPGLs can cause secondary hypertension, and lead to a series of clinical syndromes, including myocardial injury, metabolic changes, and so on. The occurrence of PPGIs is related to gene mutation. Biochemical detection, imaging examination, and genetic testing can help diagnose. The tumor should be…
A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family by Wei Xu
CONCLUSIONS: A novel missense variant in TUB was identified, which was probably the pathogenic basis for arRP in this consanguineous family. This is the first report of a homozygous missense variant in TUB for RP.
Risk factors for eating disorders: findings from a rapid review by Sarah Barakat
CONCLUSION: Eating disorders are associated with multiple risk factors. An extensive amount of research has been conducted in the field; however, further studies are required to assess the causal nature of the risk factors identified in the current review. This will assist in understanding the sequelae of eating disorder development and in turn allow for…
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis by Tiziano Pramparo
CONCLUSIONS: Prevalence estimates calculated herein support and expand upon existing evidence indicating underdiagnosis of CTX, suggesting that improved detection strategies are needed. Increased awareness of CTX is important for early diagnosis, which is essential for patients as early treatment significantly slows or prevents disease progression.
KIN: a method to infer relatedness from low-coverage ancient DNA by Divyaratan Popli
Genetic kinship of ancient individuals can provide insights into their culture and social hierarchy, and is relevant for downstream genetic analyses. However, estimating relatedness from ancient DNA is difficult due to low-coverage, ascertainment bias, or contamination from various sources. Here, we present KIN, a method to estimate the relatedness of a pair of individuals from…
Targeting Microglial Metabolic Rewiring Synergizes with Immune Checkpoint Blockade Therapy for Glioblastoma by Zengpanpan Ye
Glioblastoma (GBM) constitutes the most lethal primary brain tumor for which immunotherapy has provided limited benefit. The unique brain immune landscape is reflected in a complex tumor immune microenvironment (TIME) in GBM. Here, single cell sequencing of the GBM TIME revealed that microglia were under severe oxidative stress, which induced nuclear receptor subfamily 4 group…
Recurrent Catatonia: Infection and Immunity in an Idiopathic Illness by Sucheta Tiwari
Catatonia can be associated with multiple physical and mental illnesses, and idiopathic catatonia is a well-recognized clinical entity. Here we report a case of recurrent idiopathic catatonia with underlying immunologic abnormalities, with an emphasis on etiological hypotheses. An 18-year-old female with mild learning disability, dyspraxia, autoimmune hypothyroidism, and nonceliac gluten intolerance was referred to mental…
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