List of works - Sandrine Caburet

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

scientific article published on 12 December 2017

A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome

scientific article published on May 2017

A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

scientific article published on 26 August 2020

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency

scientific article

A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.

scientific article

A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

scientific article published on 15 April 2019

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency ⬇️

scientific article published on April 19, 2011

Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes

scientific article published on 10 April 2015

Combing the genome for genomic instability.

scientific article

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

scientific article

Extensive sequence turnover of the signal peptides of members of the GDF/BMP family: exploring their evolutionary landscape.

scientific article published on 16 July 2009

Forkhead transcription factors: key players in health and disease

scientific article published on 18 April 2011

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

scientific article

Generic binding sites, generic DNA-binding domains: where does specific promoter recognition come from?

scientific article published on 17 September 2009

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure

scientific article

GermOnline, a cross-species community knowledgebase on germ cell differentiation.

scientific article

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

scientific article published on 01 June 2020

Human ribosomal RNA gene arrays display a broad range of palindromic structures.

scientific article published on 15 July 2005

Mechanisms of Mendelian dominance.

scientific article published on 28 July 2017

Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.

scientific article

Mutant Cohesin in Premature Ovarian Failure

scientific article (publication date: 6 March 2014)

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

scientific article

STAG3 in premature ovarian failure

scientific article published in February 2015

STAG3 is a strong candidate gene for male infertility.

scientific article published on 7 March 2014

Targeting the molecular mechanism of DNA replication

scientific article published on 01 August 2001

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

scientific article published on 8 September 2016

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

scientific article

The post-translational modification profile of the forkhead transcription factor FOXL2 suggests the existence of parallel processive/concerted modification pathways

scientific article

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

scientific article published on 08 July 2011

Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase

scientific article published on 2 February 2011

List of works by Sandrine Caburet

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome

A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency

A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.

A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency ⬇️

Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes

Combing the genome for genomic instability.

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

Extensive sequence turnover of the signal peptides of members of the GDF/BMP family: exploring their evolutionary landscape.

Forkhead transcription factors: key players in health and disease

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

Generic binding sites, generic DNA-binding domains: where does specific promoter recognition come from?

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure

GermOnline, a cross-species community knowledgebase on germ cell differentiation.

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Human ribosomal RNA gene arrays display a broad range of palindromic structures.

Mechanisms of Mendelian dominance.

Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.

Mutant Cohesin in Premature Ovarian Failure

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

STAG3 in premature ovarian failure

STAG3 is a strong candidate gene for male infertility.

Targeting the molecular mechanism of DNA replication

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

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

The post-translational modification profile of the forkhead transcription factor FOXL2 suggests the existence of parallel processive/concerted modification pathways

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

Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase