Cited by 218Uterine Myomas and TreatmentsEstrogen and related hormone effectsUrologic and reproductive health conditions

Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse

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Gluecksohn-Waelsch, Salome·1979·Cell

Abstract

Uterine leiomyoma (UL) is the most common benign smooth muscle cell tumor with as yet unknown etiology and pathogenesis. This study was carried out to investigate the association of ESR1-351 A>G, ESR1 -397 T>C and CYP1A1 (Ile462Val) polymorphisms with UL in female patients of Iranian origin. In this case-control study, 276 patients with UL and 156 healthy women were recruited. The genetic polymorphisms ESR1-351 A>G, ESR1-397 T>C and CYP1A1 (Ile462Val) were genotyped by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). No significant difference were found in frequencies of both genotypes and alleles of ESR1-351 A>G, ESR1-397 T>C and CYP1A1 (Ile462Val) polymorphisms between the two groups (p>0.05). Our findings indicated that these ESR1 and CYP1A1 polymorphisms were not associated with the development of UL in the cases reported here.

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Crossref · 10.1016/0092-8674(79)90001-1

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  • The electron microscopy alterations in Fah-deficient mice are similar to those observed by Gluecksohn-Waelsch (1979) in the lethal albino mouse.

    “These alterations are similar to those observed by Gluecksohn-Waelsch (1979) in the lethal albino mouse.”

    From Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice (1993) · cites this paper as Gluecksohn-Waelsch (1979)

    The supplied passages and the passages retrieved for electron microscopy and lethal albino mice are labeled as a uterine-leiomyoma study, not Gluecksohn-Waelsch’s paper. None describes ultrastructural alterations in lethal albino mice, so this copy cannot verify the comparison. (LLM, conf=0.78)

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  • Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.

    “Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney.”

    From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [19]

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Research works printed but not linked: 12

  1. [2]2. Feldman S, Stewart EA. The reproductive system and disease: uterine corpus. In: Ryan KJ, Berkowite BR, Barbieri RL, editors. Kistner’s gynecology; principles and practice. 7th ed. Boston: Mosey; 1999. pp. 121–42.
  2. [4]4. Wang H, Mahadevappa M, Yamamoto K, Wen Y, Chen B, Warrington JA, et al. Distinctive proliferative phase differences in gene expression in human myometrium and leiomyomata. Fertil Steril. 2003;80(2):266–276. doi: 10.1016/s0015-0282(03)00730-1. · DOI
  3. [5]5. Hoffman PJ, Milliken DB, Gregg LC, Davis RR, Gregg JP. Molecular characterization of uterine fibroids and its implication for underlying mechanisms of pathogenesis. Fertil Steril. 2004;82(3):639–649. doi: 10.1016/j.fertnstert.2004.01.047. · DOI
  4. [9]9. van Duijnhoven FJ, Bezemer ID, Peeters PH, Roest M, Uitterlinden AG, Grobbee DE, et al. Polymorphisms in the estrogen receptor alpha gene and mammographic density. Cancer Epidemiol Biomarkers Prev. 2005;14(11 Pt 1):2655–2660. doi: 10.1158/1055-9965.EPI-05-0398. · DOI
  5. [10]10. Khvostova EP, Pustylnyak VO, Gulyaeva LF. Genetic polymorphism of estrogen metabolizing enzymes in Siberian women with breast cancer. Genet Test Mol Biomarkers. 2012;16(3):167–173. doi: 10.1089/gtmb.2011.0131. · DOI
  6. [12]12. Ye Y, Cheng X, Luo HB, Liu L, Li YB, Hou YP. CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women. J Assist Reprod Genet. 2008;25(8):389–394. doi: 10.1007/s10815-008-9246-x. · DOI
  7. [13]13. Crofts F, Cosma GN, Currie D, Taioli E, Toniolo P, Garte SJ. A novel CYP1A1 gene polymorphism in African-Americans. Carcinogenesis. 1993;14(9):1729–1731. doi: 10.1093/carcin/14.9.1729. · DOI
  8. [16]16. Shin A, Kang D, Choi JY, Lee KM, Park SK, Noh DY, et al. Cytochrome P450 1A1 (CYP1A1) polymorphisms and breast cancer risk in Korean women. Exp Mol Med. 2007;39(3):361–366. doi: 10.1038/emm.2007.40. · DOI
  9. [18]18. Herr D, Bettendorf H, Denschlag D, Keck C, Pietrowski D. Cytochrome P2A13 and P1A1 gene polymorphisms are associated with the occurrence of uterine leiomyoma. Arch Gynecol Obstet. 2006;274(6):367–371. doi: 10.1007/s00404-006-0201-8. · DOI
  10. [20]20. Massart F. Human races and pharmacogenomics of effective bone treatments. Gynecol Endocrinol. 2005;20(1):36–44. doi: 10.1080/09513590400019437. · DOI
  11. [21]21. Hernández J, Balic I, Johnson-Pais TL, Higgins BA, Torkko KC, Thompson IM, et al. Association between an estrogen receptor alpha gene polymorphism and the risk of prostate cancer in black men. J Urol. 2006;175(2):523–527. doi: 10.1016/S0022-5347(05)00240-5. · DOI
  12. [23]23. Villanova FE, Andrade PM, Otsuka AY, Gomes MT, Leal ES, Castro RA, et al. Estrogen receptor alpha polymorphism and susceptibility to uterine leiomyoma. Steroids. 2006;71(11-12):960–965. doi: 10.1016/j.steroids.2006.07.005. · DOI

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Authors
Gluecksohn-Waelsch, S.
Affiliations
Albert Einstein College of Medicine (US)
Corresponding author
Gluecksohn-Waelsch, Salome
Venue
Cell
Publisher
Elsevier BV
Published
1979-02
Volume
16
Issue
2
Pages
225-237
ISSN
0092-8674 (ISSN-L)
OpenAlex
W1972479318
Cited by
218
References
39
Citations by year
2023: 1 · 2022: 2 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 3 · 2017: 2 · 2016: 5 · 2015: 3 · 2014: 2 · 2012: 2
FWCI
5.43
Type
journal article
Language
en
Open access
Locations
  • Cell (publishedVersion)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • National Science Foundation
  • American Cancer Society
  • National Institutes of Health
Topics
  • Health Sciences › Medicine › Obstetrics and Gynecology › Uterine Myomas and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
  • Health Sciences › Medicine › Rheumatology › Urologic and reproductive health conditions
Keywords
uterine fibroids, estrogen receptor 1, ESR1 polymorphisms, genetic susceptibility, smooth muscle tumor, Iranian women

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