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About 15,608 results

General anesthesia with cisatracurium and sevoflurane for a patient with primary carnit...
https://doi.org/10.1097/MD.0000000000027333
Medicine Ai L, Fang Y

Sep 25th, 2021 - Lipid storage myopathies (LSMs) are a series of genetic disorders of lipid metabolism predominantly affecting muscle. The low incidence and lethal properties of this disease make anesthesia experience limited in such patients. Among all etiologies of LSMs, primary carnitine deficiency (PCD) is now considered highly treatable by early administration of L-carnitine, though it remains unclear whet...

Efficacy of erzhu jiedu recipe on hepatitis B cirrhosis with hyperalphafetoproteinemia:...
https://doi.org/10.1097/MD.0000000000027231
Medicine Chen TY, Mai JY et. al.

Sep 25th, 2021 - Hepatitis B cirrhosis with hyperalphafetoproteinemia is the intermediate stage of liver cirrhosis progressing to hepatocellular carcinoma (HCC), there is no effective way to treat precancerous lesions of liver in modern medicine. In recent decades, clinical and experimental evidence shows that Chinese medicine (CM) has a certain beneficial effect on Hepatitis B Cirrhosis. Therefore, this trial ...

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454130
Orphanet Journal of Rare Diseases; Feng J, Yang C et. al.

Sep 22nd, 2021 - Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive metabolic disorder resulting from variants in ACAD8, and is poorly understood, as only dozens of cases have been reported previously. Based on a newborn screening program, we evaluated the incidence, phenotype and genotype of IBDD as well as the prognosis. Moreover, we reviewed the variant spectrum in ACAD8 associated ...

Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression: The SURE-PD3 ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8441591
JAMA , Schwarzschild MA et. al.

Sep 15th, 2021 - Urate elevation, despite associations with crystallopathic, cardiovascular, and metabolic disorders, has been pursued as a potential disease-modifying strategy for Parkinson disease (PD) based on convergent biological, epidemiological, and clinical data. To determine whether sustained urate-elevating treatment with the urate precursor inosine slows early PD progression. Randomized, double-blind...

CCR6 Expression on B Cells Is Not Required for Clinical or Pathological Presentation of...
https://doi.org/10.4049/jimmunol.2001413
Journal of Immunology (Baltimore, Md. : 1950); Lee DSW, Yam JY et. al.

Aug 18th, 2021 - B cells have been implicated in the pathogenesis of multiple sclerosis, but the mechanisms that guide B cell activation in the periphery and subsequent migration to the CNS remain incompletely understood. We previously showed that systemic inflammation induces an accumulation of B cells in the spleen in a CCR6/CCL20-dependent manner. In this study, we evaluated the role of CCR6/CCL20 in the con...

Disrupting the LINC complex by AAV mediated gene transduction prevents progression of L...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342462
Nature Communications; Chai RJ, Werner H et. al.

Aug 7th, 2021 - Mutations in the LaminA gene are a common cause of monogenic dilated cardiomyopathy. Here we show that mice with a cardiomyocyte-specific Lmna deletion develop cardiac failure and die within 3-4 weeks after inducing the mutation. When the same Lmna mutations are induced in mice genetically deficient in the LINC complex protein SUN1, life is extended to more than one year. Disruption of SUN1's f...

Acrodermatitis enteropathica with ocular manifestations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8344291
BMJ Case Reports; Das D, Rathod A et. al.

Aug 7th, 2021 - Acrodermatitis enteropathica with ocular manifestations.|2021|Das D,Rathod A,Modaboyina S,Agrawal S,|diagnosis,etiology,deficiency,

Gene of the month: FH.
https://doi.org/10.1136/jclinpath-2021-207830
Journal of Clinical Pathology; Zyla RE, Hodgson A

Aug 7th, 2021 - Fumarate hydratase (FH), encoded by the FH gene, is an enzyme which catalyses the conversion of fumarate to L-malate as part of the tricarboxylic acid cycle. Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in severe neurological and developmental abnormalities. Heterozygous germline mutations in FH result in hereditary leiomyomatosis and renal cell ...

Should temozolomide be used on the basis of O6-methylguanine DNA methyltransferase stat...
https://doi.org/10.1016/j.ctrv.2021.102261
Cancer Treatment Reviews; Trillo Aliaga P, Spada F et. al.

Aug 1st, 2021 - Temozolomide (TEM) is an active treatment in metastatic neuroendocrine tumors (NETs). Patients affected by glioblastoma multiforme or advanced melanoma treated with TEM who have deficiency of O6-methylguanine DNA methyltransferase (MGMT) have a better responses and survival. However, the predictive role of MGMT in patients with NETs treated with TEM is still debated. We conducted a systematic r...

Nuclear Receptor Nur77 Protects Against Abdominal Aortic Aneurysm by Ameliorating Infla...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8475661
Journal of the American Heart Association; Zhang H, Geng N et. al.

Jul 31st, 2021 - Background Abdominal aortic aneurysm (AAA) is a life-threatening vascular disorder characterized by chronic inflammation of the aortic wall, which lacks effective pharmacotherapeutic remedies and has an extremely high mortality. Nuclear receptor NR4A1 (Nur77) functions in various chronic inflammatory diseases. However, the influence of Nur77 on AAA has remained unclear. Herein, we sought to det...

NEK2 inhibition triggers anti-pancreatic cancer immunity by targeting PD-L1.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316469
Nature Communications; Zhang X, Huang X et. al.

Jul 29th, 2021 - Despite the substantial impact of post-translational modifications on programmed cell death 1 ligand 1 (PD-L1), its importance in therapeutic resistance in pancreatic cancer remains poorly defined. Here, we demonstrate that never in mitosis gene A-related kinase 2 (NEK2) phosphorylates PD-L1 to maintain its stability, causing PD-L1-targeted pancreatic cancer immunotherapy to have poor efficacy....

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase d...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314513
Journal of Medical Case Reports; Sivashangar A, Gooneratne L et. al.

Jul 28th, 2021 - Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in whic...

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
https://doi.org/10.1007/s00439-021-02321-z 10.1016/j.molcel.2010.09.019 10.1158/0008-5472.CAN-11-0853 10.4161/cc.25064 10.1038/nrm2851 10.1101/gr.160572.113 10.1038/gim.2015.147 10.1038/s41436-018-0140-3 10.1126/science.1133427 10.1016/j.molcel.2012.06.002 10.1016/j.ajhg.2019.06.005
Human Genetics; Alsaif HS, Al Ali H et. al.

Jul 28th, 2021 - The purpose of this study is to describe a Mendelian disorder of DNA damage repair. Phenotypic delineation of two families, one new and one previously published, with overlapping dysmorphic and neurodevelopmental features was undertaken. Functional characterization of DNA damage repair in fibroblasts obtained from the index individuals in each of the two families was pursued. We present new evi...

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 v...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387473
American Journal of Human Genetics; Gergics P, Smith C et. al.

Jul 17th, 2021 - Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor....

Genome-wide analyses of XRN1-sensitive targets in osteosarcoma cells identify disease-r...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457002
RNA (New York, N.Y.); Pashler AL, Towler BP et. al.

Jul 17th, 2021 - XRN1 is a highly conserved exoribonuclease which degrades uncapped RNAs in a 5'-3' direction. Degradation of RNAs by XRN1 is important in many cellular and developmental processes and is relevant to human disease. Studies in D. melanogaster demonstrate that XRN1 can target specific RNAs, which have important consequences for developmental pathways. Osteosarcoma is a malignancy of the bone and a...

Foxo1 deletion promotes the growth of new lymphatic valves.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8279588
The Journal of Clinical Investigation; Scallan JP, Knauer LA et. al.

Jul 16th, 2021 - Patients with congenital lymphedema suffer from tissue swelling in part due to mutations in genes regulating lymphatic valve development. Lymphatic valve leaflets grow and are maintained throughout life in response to oscillatory shear stress (OSS), which regulates gene transcription in lymphatic endothelial cells (LECs). Here, we identified the first transcription factor, Foxo1, that repressed...

Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct del...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275582
Nature Communications; Pearson TS, Gupta N et. al.

Jul 14th, 2021 - Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy, and causes severe developmental disability and lifelong motor, behavioral, and autonomic symptoms including oculogyric crises (OGC), sleep disorder, and mood disturbance. We investigated the safety and efficacy of delivery...

TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275687
Nature Communications; Alesi N, Akl EW et. al.

Jul 14th, 2021 - Tuberous Sclerosis Complex (TSC) is caused by TSC1 or TSC2 mutations, resulting in hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1). Transcription factor EB (TFEB), a master regulator of lysosome biogenesis, is negatively regulated by mTORC1 through a RAG GTPase-dependent phosphorylation. Here we show that lysosomal biogenesis is increased in TSC-associated renal tumors...

Homozygous MTAP deletion in primary human glioblastoma is not associated with elevation...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8270912
Nature Communications; Barekatain Y, Ackroyd JJ et. al.

Jul 11th, 2021 - Homozygous deletion of methylthioadenosine phosphorylase (MTAP) in cancers such as glioblastoma represents a potentially targetable vulnerability. Homozygous MTAP-deleted cell lines in culture show elevation of MTAP's substrate metabolite, methylthioadenosine (MTA). High levels of MTA inhibit protein arginine methyltransferase 5 (PRMT5), which sensitizes MTAP-deleted cells to PRMT5 and methioni...

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causi...
https://doi.org/10.1016/j.ejmg.2021.104283
European Journal of Medical Genetics; Nayab A, Alam Q et. al.

Jul 9th, 2021 - Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) have been identified, involved in various forms of neuromuscular anomalies. Targeted whole exome sequencing (WES) was performed on the DNA of single af...