Psoriatic arthritis mutilans (PAM) is a rare variant and the most severe form of psoriatic arthritis where patients present erosions of the small joints and osteolysis leading to joint disruption and shortening of one or more digits. To date, no susceptibility genes have been determined.
Long-chain fatty acid beta-oxidation disorders (lcFAOD) are a group of inherited metabolic diseases, characterized by the accumulation of disease-specific acyl-CoAs reflecting the enzyme deficiency. The exact consequence of accumulating lcFAO-intermediates and their influence on cellular lipid homeostasis in patients with these diseases is unknown.
The standard therapy for moderate to severe cases of ulcerative colitis (UC) is treatment with infliximab, but it is estimated that about 40% of patients with UC do not respond to it. An international team of investigators set out to study the causes behind this, which are not clearly understood.
Since oxaliplatin is currently one of the most effective chemotherapeutic drugs used in the treatment of colorectal cancer (CRC), resistance to oxaliplatin usually leads to therapeutic failure and poor prognosis in CRC patients. A team at The Sixth Affiliated Hospital - Sun Yat-sen University aimed to investigate the mechanisms of metabolic reprogramming in oxaliplatin resistance in CRC.
Genome sequencing has identified several single-nucleotide polymorphisms (SNPs) tied to osteoporosis, but most of them are located in noncoding regions. Investigators identified a SNP which impacted the YY2-PAPSS2 axis and risk of osteoporosis; the PAPSS2 gene encodes bifunctional 3’-phosphoadenosine 5’-phosphosulfate synthase 2.
Infection with Helicobacter pylori is a risk factor for the development of gastric cancer. H. pylori initiates a chronic inflammatory response that can lead to the production of excessive radical oxygen species (ROS), which in turn can activate oncogenic signaling pathways leading to gastric cancer development. SUMOylation is a post-translational modification mechanism in cells in response to reactions to stress. A team at The First Affiliated Hospital of Nanchang University hence set out to study the role of SUMO-activating enzyme subunit 1 (SAE1) in gastric cancer, since it is a SUMO-activating effector protein.
It is known that CX3C chemokine receptor 1 (CX3CR1) expressed on macrophages plays a crucial role in inner hair cell ribbon synaptic repair and spiral ganglion neuron survival after synaptopathic noise-induced trauma.
Researchers from Broad Institute Inc. and affiliated organizations have reported data from a study that highlighted a new variant-to-gene-to-program (V2G2P) approach designed to link variants from genome-wide association studies (GWAS) to genes and identify their convergence onto specific disease-associated transcriptional programs.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
The rare hereditary fibrinogen disorder hypodysfibrinogenemia is characterized by fibrinogen defects, which can cause thrombotic and hemorrhagic phenotypes that are not always predicted by routine coagulation tests. Researchers from Academic Hospital Maastricht aimed to characterize the genetic profile of a family with hypodysfibrinogenemia and predict bleeding and/or thrombotic phenotypes in asymptomatic family members using innovative testing.
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