“…The use of a multiplex polymerase chain reaction (PCR) targeting Aspergillus species and fumigatus DNA as well as the two most prevalent azole resistance- associated mutations (RAMs) in the cyp51A gen (TR34/L98H and TR46/Y121F/T289A) could shorten the time to detect azole-resistant IA. …”
Enlace del recurso
Enlace del recurso

“…We identified, in all nine affected individuals, including twin sets, non-synonymous SNPs in three genes: COL12A1 and CATSPER2, and KCNJ12 that are commonly enriched for deleterious, loss-of-function mutations, and their dysfunctions are known to be involved in the development of chronic pain, and represent key therapeutic targets. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We conducted nearly 1400 differential expression comparisons to identify cell type–specific molecular alterations (e.g., case vs healthy control, sex‐specific, apolipoprotein E (APOE) ε4/ε4, and TREM2 mutations). Each comparison was followed by protein‐protein interaction module detection, functional enrichment analysis, and omics‐informed target and drug (over 700,000 perturbation profiles) screening. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in dystrophin encoding gene, causing progressive degeneration of cardiac, respiratory, and skeletal muscles leading to premature death due to cardiac and respiratory failure. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Microsomal P450s include 21-hydroxylase and 17α-hydroxylase/17-lyase. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and overproduction of androgens. 11β-hydroxylase deficiency (11β-OHD), which is a defect of a mitochondrial P450, is the second common cause of CAH. …”
Enlace del recurso
Enlace del recurso

“…Both these extra interactions and conformational change lead to a higher affinity binding of protein-DNA, which seems to overcome the barrier introduced by the dimerization breaking mutations. This interaction surface could be a druggable site for structure-based drug design in the future, targeting AR-DBD dimerization. …”
Enlace del recurso
Enlace del recurso

“…A TSHoma must be differentiated from Resistance to Thyroid Hormone (RTH)-beta, which occurs due to mutations in the Thyroid Hormone Receptor Beta gene. …”
Enlace del recurso
Enlace del recurso

“…Patients presenting with extra adrenal paragangliomas including bladder paragangliomas require genetic testing because of the strong hereditary predisposition, with mutations in the SDHx genes being most common with this clinical phenotype. …”
Enlace del recurso
Enlace del recurso

“…Preoperative genetic testing was negative for common mutations associated with pheochromocytoma/paraganglioma syndromes. …”
Enlace del recurso
Enlace del recurso

“…Molecular markers: no mutations in BRAF, RAS, or TP53. In preparation for radioactive iodine (RAI) therapy, total thyroidectomy was performed 4/13/2013 and reported as normal thyroid tissue. …”
Enlace del recurso
Enlace del recurso

“…Gap junctions (GJs) are specialised channels of cytoplasmic communication between cells, permitting the regulated transfer of substrates. Loss-of-function mutations in the CADM1 gene, which affects GJ protein CX43, have been found in APAs, implicating CX43 in aldosterone regulation. …”
Enlace del recurso
Enlace del recurso

“…LAM tumor cells contain mutations in one of the tuberous sclerosis genes (TSC1 or TSC2), leading to constitutive activation of the mTORC1 pathway. …”
Enlace del recurso
Enlace del recurso

“…Immunostaining of TTF-1 and TG were positive, which additionally supported above diagnosis. Mutational testing of BRAF, K-RAS and N-RAS were negative. …”
Enlace del recurso
Enlace del recurso

“…Pancreatic ductal adenocarcinoma (PDAC) comprises more than 90% of pancreatic cancer cases and commonly harbors mutations in KRAS and TP53. PDAC is the third leading cause of cancer-related deaths in the US with approximately 10% 5-year relative survival rate. …”
Enlace del recurso
Enlace del recurso

“…We chose to target the GRM signaling pathway with the FDA-approved drug Riluzole currently being used to treat amyotrophic lateral sclerosis.In this study, we test the ability of Riluzole to reduce cell growth, alone and in combination with endocrine therapy, in a diverse set of ER+ invasive ductal and lobular breast cancer-derived cell lines, primary breast tumor explant cultures, and the estrogen-independent, ESR1-mutated, ILC-derived patient-derived xenograft model HCI-013EI. …”
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Immune checkpoint inhibitors (ICIs) with or without chemotherapy represent first-line standard of care for patients with advanced non-small cell lung cancer (NSCLC) without targetable driver mutations. The most appropriate second-line therapy after failing immunochemotherapy remains an open question. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Retinitis pigmentosa (RP) is a set of inherited rod-cone degenerative diseases that clinically presents with similar signs and symptoms. Mutations in one of more than 70 genes are involved. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…METHODS: CCK8 test was used to test the cell viability and survival rate of EGFR mutated PC9 cell (Gefitinib sensitive), PC9/BB4 cell (acquired Gefitinib resistant), and EGFR wild type A549 cell after treatment of STE029, Gefitinib or combination of both. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The most well studied of the PLA(2)s include extensive genetic and mutational studies, complete lipidomics specificity characterization, and crystallographic structures. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Mutations in DNAJC5/CSPα are associated with adult neuronal ceroid lipofuscinosis (ANCL), a dominant-inherited neurodegenerative disease featuring lysosome-derived autofluorescent storage materials (AFSMs) termed lipofuscin. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso