Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.2.3.23 (GAS)
 957 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To facilitate the positional cloning of the breast-ovarian cancer gene BRCA1, we constructed a high-density genetic map of the 8.3-cM interval between D17S250 and GIP on chromosome 17q12-q21. Markers were mapped by linkage in the CEPH and in extended kindreds in our breast cancer series. The map comprises 33 ordered polymorphisms, including 12 genes and 21 anonymous markers, yielding an average of one polymorphism every 250 kb. Twenty-five of the markers are PCR-based systems. The order of polymorphic genes and markers is cen-D17S250-D17S518-HER2-THRA1-RARA-D17S80 -KRT10-[D17S800-D17S857]-GAS- D17S856-EDH17B-D17S855-D17S859-D17S858-[++ +PPY-D17S78]-D17S183-EPB3-D17S579- D17S509-[D17S508-D17S190 = D17S810]-D17S791-[D17S181 = D17S806]-D17S797- HOX2B-GP3A-[D17S507 = GIP]-qter. BRCA1 lies in the middle of the interval, between THRA1 and D17S183. Markers from this map can be used to determine whether cancer is linked to BRCA1 in families, to evaluate whether tumors have lost heterozygosity at loci in the region, and to identify probes for characterizing chromosomal rearrangements from patients and from tumors.
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PMID:High-density genetic map of the BRCA1 region of chromosome 17q12-q21. 824 78

Sexual distress is associated with a variety of negative outcomes. Unique contributors to sexual distress exist among transgender individuals. The current study examined the impacts of gender-affirming interventions (i.e., hormone therapy [HT], gender-affirmation surgery [GAS]) and body satisfaction on sexual distress among 317 transgender adults recruited nationally to participate in an anonymous online survey. As expected, individuals who had received HT and/or GAS reported better body satisfaction compared to those who wanted these interventions but had not yet received them. Sexual distress did not differ by transition status. As hypothesized, time since transition began was positively associated with body satisfaction, and there was an indirect relationship between time since transition began and sexual distress through body satisfaction. These results replicated findings in the extant literature suggesting that body satisfaction is improved by GAS. Furthermore, this was the first study of which we are aware to examine the role of time since transition began with respect to body satisfaction and the resulting impact on sexual distress. Results from this study may have clinical implications that could help improve the gender-affirmation experience for transgender individuals.
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PMID:Improving the Gender-Affirmation Process for Transgender and Gender-Nonconforming Individuals: Associations Among Time Since Transition Began, Body Satisfaction, and Sexual Distress. 3114 Aug 76