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 Wortmann; Shamima Rahman; Robert D S Pitceathly; Jean Donadieu; Aurelia Alimi; Vincent Launay; Paul Coppo; Sophie Christin-Maitre; Gorjana Robevska; Jocelyn van den Bergen; Brianna L Kline; Katie L Ayers; Phoebe N Stewart; David A Stroud; Diana Stojanovski; Andrew H Sinclair

doi:10.1210/clinem/dgac528

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 Wortmann (Co-author)
, Shamima Rahman
, Robert D S Pitceathly
, Jean Donadieu
, Aurelia Alimi
, Vincent Launay
, Paul Coppo
, Sophie Christin-Maitre
, Gorjana Robevska
, Jocelyn van den Bergen

Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

21 Citations (Web of Science)

Original language	English
Pages (from-to)	3328-3340
Journal	JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
Volume	107
Issue number	12
DOIs	https://doi.org/10.1210/clinem/dgac528
Publication status	Published - 2022

Keywords

TRANSFER-RNA SYNTHETASE
3-METHYLGLUTACONIC ACIDURIA
MITOCHONDRIAL-DNA
CONGENITAL NEUTROPENIA
PERRAULT SYNDROME
HEARING-LOSS
MUTATIONS
FAILURE
GENES
EXPRESSION

Access to Document

10.1210/clinem/dgac528

Cite this

Tucker, E. J., Baker, M. J., Hock, D. H., Warren, J. T., Jaillard, S., Bell, K. M., Sreenivasan, R., Bakhshalizadeh, S., Hanna, C. A., Caruana, N. J., Wortmann, S., Rahman, S., Pitceathly, R. D. S., Donadieu, J., Alimi, A., Launay, V., Coppo, P., Christin-Maitre, S., Robevska, G., ... Sinclair, A. H. (2022). Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM , 107(12), 3328-3340. https://doi.org/10.1210/clinem/dgac528

Tucker, Elena J ; Baker, Megan J ; Hock, Daniella H et al. / Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. In: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM 2022 ; Vol. 107, No. 12. pp. 3328-3340.

@article{452578cb9afd4a6db01b51c97c444dc9,

title = "Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.",

keywords = "TRANSFER-RNA SYNTHETASE, 3-METHYLGLUTACONIC ACIDURIA, MITOCHONDRIAL-DNA, CONGENITAL NEUTROPENIA, PERRAULT SYNDROME, HEARING-LOSS, MUTATIONS, FAILURE, GENES, EXPRESSION",

author = "Tucker, \{Elena J\} and Baker, \{Megan J\} and Hock, \{Daniella H\} and Warren, \{Julia T\} and Sylvie Jaillard and Bell, \{Katrina M\} and Rajini Sreenivasan and Shabnam Bakhshalizadeh and Hanna, \{Chloe A\} and Caruana, \{Nikeisha J\} and Saskia Wortmann and Shamima Rahman and Pitceathly, \{Robert D S\} and Jean Donadieu and Aurelia Alimi and Vincent Launay and Paul Coppo and Sophie Christin-Maitre and Gorjana Robevska and \{van den Bergen\}, Jocelyn and Kline, \{Brianna L\} and Ayers, \{Katie L\} and Stewart, \{Phoebe N\} and Stroud, \{David A\} and Diana Stojanovski and Sinclair, \{Andrew H\}",

note = "Wortmann: University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.",

year = "2022",

doi = "10.1210/clinem/dgac528",

language = "English",

volume = "107",

pages = "3328--3340",

journal = "JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM ",

issn = "0021-972X",

publisher = "Endocrine Soc",

number = "12",

}

Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, Wortmann, S, Rahman, S, Pitceathly, RDS, Donadieu, J, Alimi, A, Launay, V, Coppo, P, Christin-Maitre, S, Robevska, G, van den Bergen, J, Kline, BL, Ayers, KL, Stewart, PN, Stroud, DA, Stojanovski, D & Sinclair, AH 2022, 'Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.', JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM , vol. 107, no. 12, pp. 3328-3340. https://doi.org/10.1210/clinem/dgac528

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. / Tucker, Elena J; Baker, Megan J; Hock, Daniella H et al.
In: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM , Vol. 107, No. 12, 2022, p. 3328-3340.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

AU - Tucker, Elena J

AU - Baker, Megan J

AU - Hock, Daniella H

AU - Warren, Julia T

AU - Jaillard, Sylvie

AU - Bell, Katrina M

AU - Sreenivasan, Rajini

AU - Bakhshalizadeh, Shabnam

AU - Hanna, Chloe A

AU - Caruana, Nikeisha J

AU - Wortmann, Saskia

AU - Rahman, Shamima

AU - Pitceathly, Robert D S

AU - Donadieu, Jean

AU - Alimi, Aurelia

AU - Launay, Vincent

AU - Coppo, Paul

AU - Christin-Maitre, Sophie

AU - Robevska, Gorjana

AU - van den Bergen, Jocelyn

AU - Kline, Brianna L

AU - Ayers, Katie L

AU - Stewart, Phoebe N

AU - Stroud, David A

AU - Stojanovski, Diana

AU - Sinclair, Andrew H

N1 - Wortmann: University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.

PY - 2022

Y1 - 2022

KW - TRANSFER-RNA SYNTHETASE

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - MITOCHONDRIAL-DNA

KW - CONGENITAL NEUTROPENIA

KW - PERRAULT SYNDROME

KW - HEARING-LOSS

KW - MUTATIONS

KW - FAILURE

KW - GENES

KW - EXPRESSION

U2 - 10.1210/clinem/dgac528

DO - 10.1210/clinem/dgac528

M3 - Original Article

C2 - 36074910

SN - 0021-972X

VL - 107

SP - 3328

EP - 3340

JO - JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

JF - JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

IS - 12

ER -

Tucker EJ, Baker MJ, Hock DH, Warren JT, Jaillard S, Bell KM et al. Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM . 2022;107(12):3328-3340. doi: 10.1210/clinem/dgac528