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    PCSK9 is a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. This protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein
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    Carrier free BSA glycerol free UNG mouse monoclonal antibody clone OTI1F8 formerly 1F8
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    86
    Thermo Fisher f5031
    (A) A recurrent microdeletion on Xp11.23 (47765109–47871527 bp, hg18) is a strong candidate risk factor for spermatogenic failure. The location of deletions (red shades) and duplications (blue shades) in cases and controls are plotted separately for each cohort. CNVs at this locus appear to arise due to non-allelic homologous recombination between two nearly identical (>99.5% homology) 16 kb segmental duplications that contain the sperm acrosome gene SPACA5 . Also within the CNV region are the genes ZNF630 and the cancer-testis antigen SSX6 . We identified 9 deletions of this locus spread across all patient cohorts (3 in PT, 1 in UT, 5 in WUSTL) compared to 8 in the pooled 1124 controls (2.8% frequency versus 0.7%, odds ratio = 3.96, p = 0.005, Fisher exact test). After analysis of an additional 403 cases and 2121 controls, the association is still significant (combined data: 1.6% frequency in cases, 0.55% in controls, OR 3.0, 95% CI = [1.31–6.62], p = 0.007). (B) We identified two patients with deletion of DMRT1 , a gene on 9p24.3 that is orthologous to the putative sex determination locus of the avian ZW chromosome system . Both men were diagnosed as azoospermic. We validated these deletion calls with a qPCR assay (green star, ). We screened Affymetrix 6.0 data from an independent Han Chinese case-control study of NOA and identified an additional 3 deletions of DMRT1 coding sequence in 979 cases and none in 1734 controls. Finally, we observed no coding deletions of DMRT1 in the two largest control SNP array datasets in the Database of Genomic Variants, consisting of 4519 samples , . The combined results indicate that deletion of DMRT1 is a highly penetrant genetic cause of human spermatogenic failure (frequency of 0.38% in 1306 cases and 0% in 7754 controls, combined p = 6.2×10 −5 ). Patient IDs are indicated next to each plot (U162_A, U841_A = Utah cohort patients; F3407, <t>F5031,</t> F1060 = Nanjing cohort patients).
    F5031, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/f5031/product/Thermo Fisher
    Average 86 stars, based on 1 article reviews
    Price from $9.99 to $1999.99
    f5031 - by Bioz Stars, 2024-04
    86/100 stars
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    Carrier free BSA glycerol free LCMT1 mouse monoclonal antibody clone OTI4A5 formerly 4A5
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    Carrier free BSA glycerol free ACY1 mouse monoclonal antibody clone OTI2B5 formerly 2B5
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    Image Search Results


    (A) A recurrent microdeletion on Xp11.23 (47765109–47871527 bp, hg18) is a strong candidate risk factor for spermatogenic failure. The location of deletions (red shades) and duplications (blue shades) in cases and controls are plotted separately for each cohort. CNVs at this locus appear to arise due to non-allelic homologous recombination between two nearly identical (>99.5% homology) 16 kb segmental duplications that contain the sperm acrosome gene SPACA5 . Also within the CNV region are the genes ZNF630 and the cancer-testis antigen SSX6 . We identified 9 deletions of this locus spread across all patient cohorts (3 in PT, 1 in UT, 5 in WUSTL) compared to 8 in the pooled 1124 controls (2.8% frequency versus 0.7%, odds ratio = 3.96, p = 0.005, Fisher exact test). After analysis of an additional 403 cases and 2121 controls, the association is still significant (combined data: 1.6% frequency in cases, 0.55% in controls, OR 3.0, 95% CI = [1.31–6.62], p = 0.007). (B) We identified two patients with deletion of DMRT1 , a gene on 9p24.3 that is orthologous to the putative sex determination locus of the avian ZW chromosome system . Both men were diagnosed as azoospermic. We validated these deletion calls with a qPCR assay (green star, ). We screened Affymetrix 6.0 data from an independent Han Chinese case-control study of NOA and identified an additional 3 deletions of DMRT1 coding sequence in 979 cases and none in 1734 controls. Finally, we observed no coding deletions of DMRT1 in the two largest control SNP array datasets in the Database of Genomic Variants, consisting of 4519 samples , . The combined results indicate that deletion of DMRT1 is a highly penetrant genetic cause of human spermatogenic failure (frequency of 0.38% in 1306 cases and 0% in 7754 controls, combined p = 6.2×10 −5 ). Patient IDs are indicated next to each plot (U162_A, U841_A = Utah cohort patients; F3407, F5031, F1060 = Nanjing cohort patients).

    Journal: PLoS Genetics

    Article Title: Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

    doi: 10.1371/journal.pgen.1003349

    Figure Lengend Snippet: (A) A recurrent microdeletion on Xp11.23 (47765109–47871527 bp, hg18) is a strong candidate risk factor for spermatogenic failure. The location of deletions (red shades) and duplications (blue shades) in cases and controls are plotted separately for each cohort. CNVs at this locus appear to arise due to non-allelic homologous recombination between two nearly identical (>99.5% homology) 16 kb segmental duplications that contain the sperm acrosome gene SPACA5 . Also within the CNV region are the genes ZNF630 and the cancer-testis antigen SSX6 . We identified 9 deletions of this locus spread across all patient cohorts (3 in PT, 1 in UT, 5 in WUSTL) compared to 8 in the pooled 1124 controls (2.8% frequency versus 0.7%, odds ratio = 3.96, p = 0.005, Fisher exact test). After analysis of an additional 403 cases and 2121 controls, the association is still significant (combined data: 1.6% frequency in cases, 0.55% in controls, OR 3.0, 95% CI = [1.31–6.62], p = 0.007). (B) We identified two patients with deletion of DMRT1 , a gene on 9p24.3 that is orthologous to the putative sex determination locus of the avian ZW chromosome system . Both men were diagnosed as azoospermic. We validated these deletion calls with a qPCR assay (green star, ). We screened Affymetrix 6.0 data from an independent Han Chinese case-control study of NOA and identified an additional 3 deletions of DMRT1 coding sequence in 979 cases and none in 1734 controls. Finally, we observed no coding deletions of DMRT1 in the two largest control SNP array datasets in the Database of Genomic Variants, consisting of 4519 samples , . The combined results indicate that deletion of DMRT1 is a highly penetrant genetic cause of human spermatogenic failure (frequency of 0.38% in 1306 cases and 0% in 7754 controls, combined p = 6.2×10 −5 ). Patient IDs are indicated next to each plot (U162_A, U841_A = Utah cohort patients; F3407, F5031, F1060 = Nanjing cohort patients).

    Article Snippet: F5031 , 30911 , 1972069 , Affymetrix 6 , All , Azoo.

    Techniques: Homologous Recombination, Sequencing

    DMRT1 deletions detected by array in the current study.

    Journal: PLoS Genetics

    Article Title: Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

    doi: 10.1371/journal.pgen.1003349

    Figure Lengend Snippet: DMRT1 deletions detected by array in the current study.

    Article Snippet: F5031 , 30911 , 1972069 , Affymetrix 6 , All , Azoo.

    Techniques: