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Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse
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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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“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)
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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.”
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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Dove, W. F. (1984) · Cell Differentiation · doi:10.1016/0045-6039(84)90076-9 · Cited by 2
The effect of aminothiadiazole on glycogenesis and glycogenolysis in fetal and neonatal rat liver
Beaudoin, A. R. (1983) · Teratology · doi:10.1002/tera.1420280308 · Cited by 1
Marra, E., Turrini, P., Tripodi, M., Ciliberto, G., Padrón, J. R., & Aurisicchio, L. (2012) · Laboratory Animals · doi:10.1258/la.2012.012038 · Cited by 1
Metadata
- 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
- green
- doaj.org
- Licence
- 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 › Endocrinology › Estrogen and related hormone effects
- Health Sciences › Medicine › Urology › Urologic and reproductive health conditions
- Keywords
- uterine fibroids, estrogen receptor 1, ESR1 polymorphisms, genetic susceptibility, smooth muscle tumor, Iranian women
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