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Genodermatoses
Published in Dimitris Rigopoulos, Alexander C. Katoulis, Hyperpigmentation, 2017
Dyschromatosis universalis hereditaria (DUH) is also an autosomal dominant genodermatosis in which, in about 50% of cases, there are hyperpigmented macules on the face. Hypo- and hyperpigmented macules with irregular shape are intermingled on the abdomen, trunk, and extremities, during the first year of life.35 Palms and soles may rarely be involved. The specific mutations have been detected in ABCB6 genes.36 Recently, an autosomal recessive form of DUH with later onset and stabilization of the disease over time has been described.37
Recent advances in high-throughput flow cytometry for drug discovery
Published in Expert Opinion on Drug Discovery, 2021
Despite the successful development of antimicrobial therapeutics, the development of drug resistance has become a significant clinical problem. One major factor contributing to drug resistance for many classes of antimicrobial drugs is that microbes have capacity to export drugs through efflux pumps [21,22,87,88]. The inhibition of efflux pumps has been an attractive approach to overcome drug resistance. The University of New Mexico Center for Molecular Discovery and the national Institutes of Health Molecular Libraries Probe Production Centers Network have performed a large number of yeast, or mammalian-based HTFC screens for the discovery of compounds inhibiting multidrug efflux pumps, including ABCB1, ABCG2, ABCB6, vacuolar ATPase, CDR1, CDR2, and MDR, by screening 200,000 to 350,000 compounds in different projects using the cell barcoding approach to multiplex up to 5 cell types in each well. These screens have been extensively reviewed by Tegos, Denny and Holmes [21,22]. In addition, Haynes et al. recently described the development of an HTFC dye accumulation assay to screen resistance nodulation cell division (RND), a family of inner membrane transporters, in a pathogenic bacteria model [89]. HTFC technology has enabled high throughput and multiplexed screenings of various efflux pumps and these screens identified various series of efflux pump inhibitors. Efflux pumps play roles not only in anti-pathogenic drug resistance, but also in cancer drug resistance [90,91]. Thus, HTFC offers the potential for the discovery of new classes of anti-pathogenic and anti-cancer drugs.
Mild erythrocytosis as a presenting manifestation of PIEZO1 associated erythrocyte volume disorders
Published in Pediatric Hematology and Oncology, 2019
Tristan Knight, Ahmar Urooj Zaidi, Shengnan Wu, Manisha Gadgeel, Steven Buck, Yaddanapudi Ravindranath
Targeted next generation sequencing (NGS) of genes for red cell membrane proteins, red cell ion channels, hemoglobinopathies and erythrocytosis genes was done at Fulgent Diagnostics (Temple City, CA) (using the Illumina HiSeq™ platform) and included the following genes: Red cell membrane protein genes: ANK1, EPB41, EPB42, SLC4A1, SPTA1, SPTB; Ion channel genes- ABCB6, KCNN4, RHAG PIEZO1; Erythrocytosis associated genes: CALR, EGLN2, GATA1, HIF1A, JAK2, SH2B3, ET2, TET3, VHL; Globins and Enzymes HBB, HBA1, BPGM, PKLR, UGT1A1.
Screening tools for hereditary hemolytic anemia: new concepts and strategies
Published in Expert Review of Hematology, 2021
Elisa Fermo, Cristina Vercellati, Paola Bianchi
Less common RBC membrane disorders are those associated with cation permeability and cell volume regulation defects, such as dehydrated hereditary stomatocytosis (DHSt) caused by mutations in PIEZO1, overhydrated hereditary stomatocytosis (OHSt) due to mutations in RhAG, and Gardos channelopathy caused by mutations in KCNN4 gene; other more rare variants of stomatocytosis are pseudohyperkaliemia and cryohydrocytosis with neurological impairment, respectively due to defects in ABCB6 or GLUT1 genes [3,4].