Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.Y258N
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FOXL2

NM_023067.4:p.Y258N

Associated Papers

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Jordan P et al.

Clinical Genetics, 2024

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

The Genetics and Biology of FOXL2.

Tucker EJ

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Zhou L et al.

Bmc Medical Genetics, 2018

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.

Elzaiat M et al.

Clinical Genetics, 2017

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology.

Caburet S et al.

Molecular and Cellular Endocrinology, 2012

FOXL2 impairment in human disease.

Verdin H et al.

Hormone Research in Paediatrics, 2012

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Laissue P et al.

Journal of Medical Genetics, 2009

FOXL2 mutations and genomic rearrangements in BPES.

Beysen D et al.

Human Mutation, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

FOXL2: at the crossroads of female sex determination and ovarian function.

Benayoun BA et al.

Advances in Experimental Medicine and Biology, 2009

Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.

Bodega B et al.

Molecular Human Reproduction, 2004

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

De Baere E et al.

American Journal of Human Genetics, 2003

Identification of novel mutations in FOXL2 associated with premature ovarian failure.

Harris SE et al.

Molecular Human Reproduction, 2002

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