Associated Papers
Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.
Feigerlova E
Bone, 2025
Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients.
Borkar S et al.
Cancers, 2025
40282442 (PubMed )
Supplement: cancers-17-01266-s001.zip › cancers-3540268-supplementary.pdf
Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment.
Liu F et al.
Reproductive Biology and Endocrinology : Rb&e, 2022
KISS1R polymorphism rs587777844 (Tyr313His) is linked to female infertility.
Siahpoosh Z et al.
British Journal of Biomedical Science, 2021
Association of oestrogen receptor alpha gene SNPs Arg157Ter C>T and Val364Glu T>A with female infertility.
Jodeiryzaer S et al.
British Journal of Biomedical Science, 2020
A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.
Li Y et al.
Science Signaling, 2020
Comprehensive Analysis of PTEN in Primary Cutaneous Melanoma.
Němejcová K et al.
Folia Biologica, 2020
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
In silico characterization of functional SNP within the oestrogen receptor gene.
Rebaï M et al.
Journal of Genetics, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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