Elena Tucker

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Anne Sophie Neyroud, Joelle Rudinger-Thirion, Magali Frugier, Lisa G Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Celia Ravel, Andrew H Sinclair, Marc-Antoine Belaud-Rotureau, Elena J Tucker, Sylvie Jaillard

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes..

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Brianna L Kline, Sylvie Jaillard, Katrina M Bell, Shabnam Bakhshalizadeh, Gorjana Robevska, Jocelyn van den Bergen, Jerome Dulon, Katie L Ayers, John Christodoulou, Michel C Tchan, Philippe Touraine, Andrew H Sinclair, Elena J Tucker

Journal article  |  2022  |  GENES

The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mit..

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert DS Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, et al.

Journal article  |  2022  |  JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CONTEXT: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated conditi..

Genomic testing in premature ovarian insufficiency: proceed with caution

Elena J Tucker, Tiong Y Tan, Zornitza Stark, Andrew H Sinclair

Journal article  |  2022  |  BIOLOGY OF REPRODUCTION

Genomic testing has the potential to transform outcomes for women with infertility conditions, such as premature ovarian insuffici..

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

Elena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Brianna L Kline, Katrina M Bell, Mathilde Domin-Bernhard, Camille Theard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L Ayers, Andrew H Sinclair, Volker Doetsch, Sylvie Jaillard

Journal article  |  2022  |  HUMAN MUTATION

Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated..

A recessive mutation in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, and hearing loss

Farid Ullah, Waqar Rauf, Kamal Khan, Sheraz Khan, V Oliveira, K Bell, M Tariq, S Bakhshalizadeh, T Philippe, A Sinclair, E Tucker, S He, SM Baig, EE Davis

Conference Proceedings  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Masashi Mikami, Satoshi Narumi, Maki Fukami, Rajini Sreenivasan, Tetsuo Maruyama, Elena J Tucker, Liang Zhao, Josephine Bowles, Andrew Sinclair, Peter Koopman, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada

Journal article  |  2022  |  HUMAN MOLECULAR GENETICS

The genetic regulation of ovarian development remains largely unclear. Indeed, in most cases of impaired ovarian development-such ..

Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment

Eisa Tahmasbpour Marzouni, Catharyn Stern, Andrew Henrik Sinclair, Elena Jane Tucker

Journal article  |  2022  |  ENDOCRINE REVIEWS

Having biological children remains an unattainable dream for most couples with reproductive failure or gonadal dysgenesis. The com..

Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

Rajini Sreenivasan, Katrina Bell, Jocelyn van den Bergen, Gorjana Robevska, Daniele Belluoccio, Rachana Dahiya, Gary M Leong, Jerome Dulon, Philippe Touraine, Elena J Tucker, Katie Ayers, Andrew Sinclair

Journal article  |  2022  |  MOLECULAR AND CELLULAR ENDOCRINOLOGY

Complete androgen insensitivity syndrome (CAIS), where 46,XY individuals present as female, is caused by variants in the androgen ..

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.

Saloua Toujani, Elena J Tucker, Linda Akloul, Laura Mary, Céline Pimentel, Erika Launay, Lucas Freton, Guilhem Jouve, Catherine Henry, Sylvie Odent, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard

Journal article  |  2022  |  Cytogenet Genome Res

Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validat..