Explore chapters and articles related to this topic
Precision medicine in ovarian carcinoma
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Shailendra Dwivedi, Purvi Purohit, Radhieka Misra, Jeewan Ram Vishnoi, Apul Goel, Puneet Pareek, Sanjay Khattri, Praveen Sharma, Sanjeev Misra, Kamlesh Kumar Pant
Similarly, Wei et al. (2017) reported high expression of ITGA6 (Integrin subunit alpha 6) in 287 ovarian cancer patients of the TCGA cohort, which was significantly associated with poorer progression-free survival. This study provided the basis of drug resistance in ovarian cancer, and integrins could be a probable biomarker for prognosis of ovarian cancer. Table 8.3 shows the recent studies that proved significant gene expression in ovarian carcinoma.
Pyloric atresia and prepyloric antral diaphragm
Published in Prem Puri, Newborn Surgery, 2017
Alessio Pini Prato, Vincenzo Jasonni, Girolamo Mattioli
Though a sure etiology is still unknown, mucosal desquamation leading to gastric outlet obstruction has been suggested to play a role, mainly in patients with associated EB.8 Junctional epidermolysis bullosa (junctional EB) associated with pyloric atresia (EB-PA: “OMIM [Online Mendelian Inheritance in Man]” 226730) represents a rare congenital disorder also known as Carmi syndrome, named after the author who described, in 1982, the association of aplasia cutis and PA9 and, later on, in 1998, suggested the existence of an autosomal recessive inherited disease including EB, PA, and aplasia cutis congenita,10 in which mucocutaneous fragility is associated with congenital gastric outlet obstruction. This association is usually fatal during the first few weeks or months of life, even following surgical correction of intestinal obstruction. Mutations in the genes encoding α6β4 integrin (ITGA6 and ITGB4 genes) and plectin (PLEC gene) have been identified in a number of patients with EB-PA.8,11–13 Regardless of whether or not it is associated with epidermolysis, several authors agreed that there is strong evidence to support an autosomal recessive model of inheritance for PA.14,15
Cannabis alters DNA methylation at maternally imprinted and autism candidate genes in spermatogenic cells
Published in Systems Biology in Reproductive Medicine, 2022
Rose Schrott, Katherine W. Greeson, Dillon King, Krista M. Symosko Crow, Charles A. Easley, Susan K. Murphy
Isolation of the SSC-like population was achieved via fluorescence-activated cell sorting (FACS) from a mixed population of SSC-like, primary spermatocyte-like, secondary spermatocyte-like, and spermatid-like cells. Cells were sorted on the SONY cell sorter (Sony Biotechnology, San Jose, CA) at the Duke Cancer Institute’s Flow Cytometry shared resource. Specifically, an APC-conjugated antibody for the ITGA6 protein (R&D Systems, Minneapolis, MN) expressed on the surface of SSCs was used to isolate this population of cells. Following ten days of differentiation, cells were harvested with trypsin and stained with 10 μl primary antibody per million cells in 1X PBS with 10% FBS and incubated at room temperature, protected from light, for 30 min. Unbound antibody was removed with two 1X PBS washes. Cells were resuspended in 10%FBS in 1X PBS for sorting. ITGA6+ cells were sorted (Figure S3) and collected for subsequent methylation analyses.
Comprehensive palmitoyl-proteomic analysis identifies distinct protein signatures for large and small cancer-derived extracellular vesicles
Published in Journal of Extracellular Vesicles, 2020
Javier Mariscal, Tatyana Vagner, Minhyung Kim, Bo Zhou, Andrew Chin, Mandana Zandian, Michael R. Freeman, Sungyong You, Andries Zijlstra, Wei Yang, Dolores Di Vizio
Functional enrichment analysis revealed that the palmitoyl-proteins significantly enriched in both L- and S-EVs were involved in pyridine nucleotide metabolism and cell adhesion (Figure 3(b) and Suppl. Table 2), and included proteins known to be involved in modulating cell polarity, adhesion and migration [46]. These comprised membrane-anchored integrins (ITGA2, ITGA6, ITGB4), claudins (CLDN1, CLDN11), and cytoskeletal proteins such as the Rho-associated moesin (MSN), vinculin (VCL), ezrin (EZR), ROCK2 and the Ras GTPase-activating-like protein IQGAP1 (Suppl. Table 2). Cell functions enriched in L-EVs versus M were associated with positive regulation of organelle and cell component organization, as well as actin cytoskeleton organization (Figure 3(b) and Suppl. Table 2). In contrast, cell functions enriched in S-EVs versus M were associated with cell and chemical homoeostasis (Figure 3(b) and Suppl. Table 2).
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
Published in Journal of Dermatological Treatment, 2021
Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng, Tor W. Chiu
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorder characterized by blister formation in skin and mucosal membranes in response to rubbing or frictional trauma (1–9). Congenital EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS; intraepidermal skin separation), junctional epidermolysis bullosa (JEB; skin separation in lamina lucida or central basement membrane zone BMZ) and dystrophic EB or epidermolysis bullosa dystrophica (DEB or EBD; sublamina densa BMZ separation) (1–3,5–8). Nowadays, prenatal genetic diagnosis has become possible (10). EBS is usually is associated with little or no extracutaneous involvement, while the more severe junctional, and dystrophic forms of EB are associated with significant multiorgan system disease, involving the mucosal surface of the mouth, esophagus, stomach, intestines, upper airway, bladder, and the genitals (11). The fundamental pathology of EB is due to an increase in collagenase activity, leading to collagen degeneration and hence splitting of various epidermal layers or at the transition between epidermis and dermis. DEB is due to mutations in the COL7A1 gene, which encodes collagen VII, and and its assembly into anchoring fibrils. Traditionally, the coexistence of congenital pyloric atresia (PA) and EB had been classified as a form of JEB (12). However, current evidence based on molecular evaluation of patients suggested that the EB-PA association is a distinct entity of hemidesmosomal variant (11,13). Genetic associations have been linked to ITGB4 (integrin-beta-4 gene), ITGA6 (integrin-alpha-6 gene) or PLEC1 (Plectin) mutations (14). Most congenital EB are associated with high morbidity and significant mortality. The age and etiology of deaths of the subtypes of EB varies (15–17). Infants with EB may succumb as a result of sepsis (4,15–17). Beyond puberty, premature deaths are often due to malignancies (15–17). Registries of EB have been set up in many countries to study this heterogeneous disease (15,18–22). In this report, we described a series of congenital EB and their genetics.