The DOI matches its Crossref record; 37 of the 49 references it cites were found in a registry or an index, and 12 are not checked yet.
Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse
Open accessAbstract
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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Cites
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Fifty Years of Developmental Geneticsa,b
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Self-citationWhere are the frame-shifted gene ‘duplications’?
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Chromosomal integration in vitro and in vivo of high capacity adenoviral vectors
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Developmental Genetics of Specific Locus Mutations
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Tyrosine aminotransferase induced in cells genetically and epigenetically deficient for this enzyme
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Self-citationGlycosylation in Livers of Newborn Mice Homozygous for a Lethal Deletion
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OF THE MOUSE MANDIBLE TO SELECTION FOR BODY COMPOSITION
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Genetic analysis of the exed region in mouse
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Exploring the Function of G6PC2 in Pancreatic Islet Beta Cells
Boortz, K. A. (2016)
Extending Genome-Wide Association Study Data Through Analysis of SNPs in the G6PC2 Gene
Baerenwald, D. A. (2012)
Developmental genetics and recessive t-lethals
Erickson, R. P. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-824016-8.00010-6
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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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