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Comparison of Healing Effect of DMSP in Green Sea Algae and Mesenchymal Stem Cells on Various Inflammatory Disorders
Published in Se-Kwon Kim, Marine Biochemistry, 2023
The incident mechanisms of gastric ulcer by H. pylori are similar as the ones noted earlier, and the amelioration is healed by the administration of antibiotics and NSCDs (Michael et al., 2017; William et al., 2017). The skin ulcer appears to be ameliorated by the division and increase of epidermal MSCs along basal membrane, accompanied by the administration of transfer factor Tbx3 (involving in the proliferation and development of MSCs and progenitor cells) (Ichijiro et al., 2017). However, the amelioration of gastric and skin ulcers by DMSP, interestingly, does not need any factors.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Many other syndromes can have SHFM within their spectrum, including a number of chromosomal anomalies, such as trisomies 13 and 18 (pp. 582, 586), and partial trisomies or monosomies scattered through many chromosomal loci. Patterson-Stevenson-Fontaine syndrome also shows mandibulofacial dysostosis. Ulnar-mammary syndrome: shows posterior limb defects, hypoplasia of mammary gland, abnormal dentition, and genital anomalies; caused by dominant mutations in TBX3. Adams-Oliver syndrome: transverse limb defects associated with aplasia cutis, usually limited to the scalp vertex, occasionally presents with vascular defects and cardiac malformations. Cenani-Lenz syndactyly syndrome: also called ‘total syndactyly’, shows a total fusion of fingers and toes, extensive fusion of carpals and metacarpals with single, partial or complete radioulnar synostosis, brachymesomelia; due to recessive mutations in LRP4. Tibial aplasia with SHFM: also shows bilateral aplasia of the tibiae, distal hypoplasia or bifurcation of femora, aplasia or hypoplasia of ulnae, aplasia of patellae; maps to chromosomes 1q42.2-q43, 6q14.1 and 17p13.3. Recently a predisposing microduplication encompassing BHLHA9 on 17p13.3 has been described. Cornelia de Lange syndrome (p. 454); CCGE (Cleft palate, Cardiac defect, Genital anomalies, Ectrodactyly): a very rare and severe disorder, brain anomalies can be present, early lethality has been reported in the few described cases. Goltz syndrome: the hallmark is focal dermal hypoplasia, which can be extensive and spreads on all the body surface; associated features include ocular anomalies (coloboma of iris and choroid, microphthalmia), hypoplastic teeth, striated bones, cardiac malformations and intellectual impairment. X-linked dominant, caused by mutations in PORCN; lethal in utero in males. SHFM has also been reported in severe cases of Smith–Lemli–Opitz syndrome and VACTERL association (p. 590); in these cases the multiple malformation pattern is striking and usually allows the correct diagnosis to be made.
Combined endocrine and targeted therapy in luminal breast cancer
Published in Expert Review of Anticancer Therapy, 2021
Marcelle Goldner, Natasha Pandolfi, Debora Maciel, Julianne Lima, Solange Sanches, Noam Pondé
Genetic mechanisms of breast tumorigenesis also encompass transcription regulators (TR). It was found that mutations in MYC, FOXA1, and TBX3 genes were frequent in endocrine-resistant tumors[24]. When heterodimerized with Max, MYC is responsible for stimulating cell proliferation, survival and metabolism, by competing with MAD-MAX repressors of gene promoters. In breast cancer, MYC is stabilized by MAPK and PIK3 cascade members. FOXA1 is a key regulator of ER expression, but its loss is associated with more aggressive behavior (basal-like), which makes this a dubious target [37]. The knockout of encoding members of the SWI/SNF chromatin remodeling complex, ARID1A and ARID2, reduces the expression of transcription factors responsible for luminal identity, such as FOXA1 and GATA3, conferring resistance to endocrine therapy [38]. Considering that bromodomain and extra-terminal (BET) proteins are associated with transcription and recruitment of most of these TR, they are the main targets when these molecules are in focus [39].
Epithelial plasticity and metastatic cascade
Published in Expert Opinion on Therapeutic Targets, 2018
At molecular level, EMT is characterized by the transcriptional and translational repression of epithelial junction proteins including α-catenin, γ-catenin/plakoglobin, E-cadherin, desmosomes, and cytokeratins; enhanced expression of mesenchymal proteins including N-cadherin, vimentin, fibronectin, cell surface proteins, CD44 (cluster of differentiation 44), integrin β6, and matrix metalloproteinases (MMPs), and degradation of extracellular matrix. Molecular reprogramming during EMT is triggered and orchestrated by EMT core regulators, also known as drivers of cellular plasticity and are classified as (a) extracellular inducers, (b) EMT-activating transcription factors (EMT-ATFs), and (c) downstream effectors. Wnt, TGF-β, Hedgehog (Hh), Notch, RAS/Receptor tyrosine kinases, and NF-kB signal transduction pathways triggered by extracellular inducers/growth factors in a tumor microenvironment interact through cross talk, mobilize EMT-ATFs [(i) two-handed zinc-finger factors of d-crystallin/E2 box factor (dEF1) family proteins/zinc-finger E-box binding homeobox (ZEB)1; (ii) Smad-interacting protein (SIP)1/ZEB2; (iii) Snail family of zinc-finger transcription factors: Snail1 (Snail), Snail2 (Slug), and Snail3 (Smuc); (iv) basic helix-loop-helix factors (Twist1 and Twist2); and (v) E12/E47 and Tbx3, and orchestrate the EMT transcriptome by inducing the downstream effectors/target genes [1].
Dramatic response to cyclin D–dependent kinase 4/6 inhibitor in refractory poorly differentiated neuroendocrine carcinoma of the breast
Published in Baylor University Medical Center Proceedings, 2018
Allison Shanks, Julia Choi, Vinit Karur
Neuroendocrine breast carcinomas harbor an average of 4.5 somatic mutations, similar to luminal B carcinomas but fewer than luminal A carcinomas.12 The genes that are most frequently associated with neuroendocrine carcinoma are GATA3, FOXA1, TBX3, and ARID1A as well as PIK3CA, AKT1, and CDH1.12 Genomic analysis of the liver lesion noted on progression of palbociclib-based treatment revealed that she had ESR1 Y537S and ARID1A L1915fs*3 mutations as well as CCND1 amplification. Clinically, a CCND1 amplification could predict enhanced sensitivity to cyclin D–dependent kinase (CDK) 4/6 inhibitors, such as palbociclib.13 CDK is important in tumor progression due to its function driving cell cycle proliferation, which is often unregulated and overexpressed in tumor cell lines.14 Cyclins, such as CCND1, regulate CDKs and specifically when bound to CDK4 and 6 will function as a G1/S transition regulator in the cell cycle.15 This is in conjunction with what we found clinically, because she responded best to a combination therapy of palbociclib and fulvestrant. Palbociclib was determined to be the best treatment option because she had a modest response to cytotoxic chemotherapy usually directed at small cell carcinomas. Neuroendocrine carcinomas of the breast share a molecular profile similar to that of luminal A and B cancers and may behave like hormone-sensitive carcinomas, which is why the patient was treated with hormone-directed therapy. Further, results from the PALOMA 2 trial failed to demonstrate increased sensitivity to a combination of palbociclib and letrozole based on biomarker analysis of cell cycle–related genes.16