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Fucosidosis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Fucosidosis was described first in 1968 by Durand and colleagues in two brothers [1, 2]. The enzyme defect was reported in the same year by Van Hoof and Hers [3]. Heterogeneity was recognized early. Most patients encountered, have had the fatal infantile form of fucosidosis, but more indolent phenotypes have been reported with survival even to adulthood [4, 5]. There has been a tendency to classify these variants as type II [6] or III, with the infantile as I, but it is increasingly clear that a spectrum of mutation leads to a spectrum of variability in clinical expression [7], and some patients with the same mutation have had very different phenotypes. The gene (FUCA1) has been mapped to chromosome 1 p36 [8, 9]. A number and variety of mutations have been identified. One mutation that causes a premature termination (Q422X) was found in eight families [10, 11], but most mutations have been unique to a single family [12, 13].
The FAMMM Syndrome in the Netherlands
Published in Henry T. Lynch, Ramon M. Fusaro, Hereditary Malignant Melanoma, 2019
W. Bergman, A. van Haeringen, L. N. Went
The following erythrocyte serum markers were tested: rhesus blood group (RH), located at 1p34, α-1-fucosidase (FUCA1), located at lp34, phosphoglucomutase-1 (PGM1), located at lp34. Also tested were the following polymorphic DNA probes: pH3H2 (DNF15S1), located at lp36.3; pl-79 (D1Z2), a hypervariable probe located at lp36.3; pYNZ-2 (D1S57), a variable number of tandem repeats (VNTR) probe located between RG and PGM1; p3–18 (D1S17), located at lp31.
Vitamin D receptor gene polymorphism and vitamin D supplementation on clinical/ treatment outcome in tuberculosis: current and future perspectives
Published in Expert Review of Anti-infective Therapy, 2022
Sonal Sekhar Miraj, Navya Vyas, Shilia Jacob Kurian, Tejaswini Baral, Levin Thomas, B Shrikar Reddy, Murali Munisamy, Mithu Banerjee, Mahadev Rao
VDR expression is represented as normalized transcript expression (nTPM) and in the normal tissues is mostly expressed in the pituitary gland (237.9), followed by duodenum (56.6), small intestine (55.4), colon (40.8), and rectum (35.7) [10]. Based on the cell types, a transcriptome-wide analysis showed that over 1000 genes alter their mRNA expression in response to 1,25-dihydroxy vitamin D. Vukić et al. identified 12 genes (STS, TREM1, LRRC25, NFE2, LPGAT1, ITGAM, FBP1, CD274, CD38, BCL6, TMEM37, and FUCA1) that are significantly associated with the alterations in the serum 25-hydroxy vitamin D levels [11]. In addition, vitamin D modulates immunity by regulating transcription of 15 genes (CAMP, ACVRL1, CD14, CEBPB, CD93, FN1, MAPK13, LILRB4, NINJ1, LRRC25, SRGN, SEMA6B, THEMIS2, THBD, and TREM1). These genes are involved in infection and autoimmune responses [12]. Sixteen vitamin D targets involved in cellular metabolism, proliferation, and differentiation were AQP9, CYP27A1, CYP24A1, MPEG1, CCL24, SEMA6B, THBS1, STAB1, TGFBI, G0S2, THBD, OSM, HBEGF, FBP1, RASAL1, and S100A9 [13]. These indicate the action of vitamin D on innate and adaptive immune responses against inflammatory and infections conditions.
Proteomics-inspired precision medicine for treating and understanding multiple myeloma
Published in Expert Review of Precision Medicine and Drug Development, 2020
Matthew Ho, Giada Bianchi, Kenneth C. Anderson
Cell membrane protein glycosylation has also been studied in MM. MM cells express high levels of P-selectin glycoprotein ligand 1 which mediate binding to E- and P-selectins [108]. This facilitates MM homing and adhesion to the cells in the BM microenvironment. Overexpression of ST3GAL6, a sialyltransferase that plays a key role in the synthesis of sialyl-Lewisx, predicts poor OS in MM [109]. Mechanistic studies reveal that knockdown of ST3GAL6 led to a reduction in α2-3-linked sialic acid on the MM cell surface membrane, which resulted in decreased stromal adhesion in vitro and reduced homing and engraftment in vivo [109]. Reduced FUCA1; an alpha-L-fucosidase that catalyzes the hydrolysis of α1-3, α1-4, and α1-6 linked fucose; was also associated with poor OS in MM [110].
Norovirus diarrhea is significantly associated with higher counts of fecal histo-blood group antigen expressing Enterobacter cloacae among black South African infants
Published in Gut Microbes, 2021
Cliff A Magwira, Duncan Steele, ML Seheri
Lewis HBGA phenotypes of the study participants were determined by a saliva-based ELISA using MAb specific to Lewis A and B antigens (DiClon Anti-Lea /Anti-Leb, Bio-Rad, Switzerland), as described previously.29,30 The secretor status was determined using a lectin based ELISA assay specific for Fuca1-2 Gal-R present in saliva of secretors, but not non-secretor, as done previously.29,30