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S Philipps

Publications and source records attributed to S Philipps.

At least 19 recordsLinked to original sources
PubMed1996

Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q.

BACKGROUND: The red cell antigens Fra and Swa were first described in 1978 and 1959, respectively. Despite the fact that these antigens are well defined serologically, information regarding the gene(s) controlling antigenic expression was not known. The present study represents a continued effort to establish the chromosomal location of human blood group genes by family linkage studies. STUDY DESIGN AND METHODS: DNA from members of kindreds segregating for FR and SW was isolated from whole blood and analyzed for restriction fragment length polymorphisms of SLC4A1 and D17S41. RESULTS: Lods for linkage between FR:SLC4A1 and SW:D17S41 were determined. Peak lods of 5.72 for the FR:SLC4A1 pair and of 3.01 for the SW:D17S41 pair were observed; there was no evidence of recombination between either pair. CONCLUSION: Lods for the FR:SLC4A1 and the SW:D17S41 pairs exceed the formal level required to establish linkage. (3.00) It was therefore concluded that the gene(s) governing Froese and Swann blood group polymorphism are located on the long arm of chromosome 17.

Blood Group Antigens↗
PubMed1994

Secondary metabolites by chemical screening, 26.1 7-O-beta-D-galactosyl-brefeldin A via transglycosylation with Penicillium brefeldianum.

A lactose-containing fermentation medium initiated the formation of 7-O-beta-D-galactosyl-brefeldin A [1] in the brefeldin A-producing organism, Penicillium brefeldianum. The detection, isolation, and physicochemical properties of 1, which has been produced by biological derivatization via transglycosylation, are described. Compound 1 is the first glycosylated brefeldin A derivative to have been prepared.

Animals↗
PubMed1993

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

We have discovered a single homoallelic nucleotide substitution as the putative cause of the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Previous linkage and haplotype analysis in this population suggested that a single mutational event was responsible for this autosomal recessive form of hypophosphatasia. The mutation is a guanosine-to-adenosine substitution at nucleotide position 1177 in exon 10 of the tissue nonspecific (liver/bone/kidney) alkaline phosphatase gene. This Gly317-->Asp mutation segregates exclusively with the heterozygote phenotype we previously assigned by biochemical testing (maximum combined lod score of 18.24 at theta = 0.00). This putative disease-causing mutation has not been described in controls nor in other non-Mennonite probands with both lethal and nonlethal forms of hypophosphatasia studied to date. This Gly317-->Asp mutation changes a polar glycine to an acidic aspartate at amino acid position 317 within the highly conserved active site region of the 507-amino-acid polypeptide. Carrier screening for this lethal mutation in our high-risk population is now feasible.

Alkaline Phosphatase↗
PubMed1993

The Diego blood group locus is located on chromosome 17q.

The Diego blood group locus (DI) is tightly linked to the erythrocyte surface protein band 3 locus (EPB3) with z = 5.42 at theta = 0.00 for combined paternal and maternal meioses. Looser linkage between DI and D17S41 (z = 3.14 at theta = 0.09) for combined paternal and maternal meioses was also established. Taken together, these results indicate that the Diego blood group locus is located on the long arm of chromosome 17.

Anion Exchange Protein 1, Erythrocyte↗
PubMed1992

Metabolic products of microorganisms. 261. Obscurolides, a novel class of phosphodiesterase inhibitors from streptomyces. I. Production, isolation, structural elucidation and biological activity of obscurolides A1 to A4.

A novel class of butyrolactones, named obscurolides, was isolated from the culture filtrate of Streptomyces viridochromogenes by chemical screening methods. The structural elucidation of the obscurolides A1 to A4 (1 approximately 4) is described. The carboxy group of the 4-aminobenzoic acid moiety of obscurolide A1 (1) is reduced in the other compounds. The isolated natural products have been proved to be diastereomeric mixtures by a partial racemization at C-7 which belongs to an allylic alcohol system. The obscurolides showed a weak inhibitory activity against calcium/calmodulin-dependent and independent phosphodiesterases from bovine.

4-Butyrolactone↗
PubMed1992

Secondary metabolites by chemical screening. 8. Decarestrictines, a new family of inhibitors of cholesterol biosynthesis from Penicillium. I. Strain description, fermentation, isolation and properties.

A family of new 10-membered lactones was detected by chemical screening. Taxonomic studies and fermentation conditions of the producing organisms, which belong to the species Penicillium simplicissimum and Penicillium corylophilum, are presented. The isolation as well as physico-chemical data of the new compounds named decarestrictines A to D are reported. In vitro testing using the HEP-G2 cell assay showed the decarestrictines to be inhibitors of cholesterol biosynthesis, which could be confirmed in vivo. In addition to the decarestrictines from P. corylophilum epoxyagroclavine-I (1) was isolated.

Animals↗
PubMed1992

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Familial lattice corneal dystrophy type I (LCD1) is a localized form of inherited amyloidosis limited to the corneal stroma. Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). In this paper we exclude the gelsolin gene as the cause of the autosomal dominant form of isolated LCD1.

Amyloidosis↗
PubMed1991

Assignment of the YT blood group locus to chromosome 7q.

The antithetical antigens YT1 and YT2 constitute the YT blood group system (International Society of Blood Transfusion system number 11). Despite being serologically well defined, the YT blood group locus (YT) has not secured a chromosomal location. In our report, peak lods of 3.61 at theta = 0.00 for YT:COL1A2 and of 3.31 at theta = 0.00 for YT:D7S13 allow us to assign YT to the long arm of chromosome 7.

Blood Group Antigens↗
PubMed1991

The low-incidence red cell antigen Wra: genetic studies.

Studies of 91 individuals in three families allowed a genetic-linkage analysis of the gene governing the production of the low-incidence red cell antigen Wra and provided evidence that Wra is not a member of the Scianna, Landsteiner-Wiener, Chido/Rodgers, or XK blood group systems, and that the "WR" locus is excluded from autosomal sites or regions 1p34-p22.1, 1p21-q23, 1q32, 2p25, 3q21, 4q28-q32, 6p24-q12, 9q34.1-q34.2, 13q14.1-q14.2, 14q24.3-q32.1, 14q32.33, 16p13, 16q22.1, and 21q21-q22.1. "WR" is also excluded from within specified genetic distances of chromosomes 8 (GPT), 18 (JK), 19 (C3), 20 (ADA), and 22 (P1) loci, which brings its exclusion to approximately 10 percent (320cM) of the total genetic map of the genome. The possibility that "WR" is pseudoautosomal is deemed to be highly unlikely.

Blood Group Antigens↗
PubMed1991

Assignment of the Auberger red cell antigen polymorphism to the Lutheran blood group system: genetic justification.

Family studies have provided the final piece of evidence for the assignment of Auberger to the Lutheran blood group system. Lods derived from combined paternal and maternal meioses (zeta = 10.83 at theta = 0.00) strongly support the contention that a single gene controls the expression of both Au and LU antigens. Consequently, the International Society of Blood Transfusion Working Party on Terminology has designated Aua and Aub as LU18 and LU19, respectively.

Antigens↗
PubMed1990

Linkage between the Colton blood group locus and ASSP11 on chromosome 7.

In an attempt to assign the Colton blood group locus (CO) we have successfully revisited chromosome 7. CO is linked to the argininosuccinate synthetase pseudogene 11 locus (ASSP11) with z = 5.79 at theta = 0.07 for combined paternal and maternal meioses. We propose a 7p position for CO.

Argininosuccinate Synthase↗