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Annette Grueters
Researcher at Charité
Publications - 8
Citations - 1021
Annette Grueters is an academic researcher from Charité. The author has contributed to research in topics: Thyroid & Triiodothyronine. The author has an hindex of 7, co-authored 8 publications receiving 943 citations. Previous affiliations of Annette Grueters include Humboldt University of Berlin.
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Journal ArticleDOI
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Edith C. H. Friesema,Annette Grueters,Heike Biebermann,Heiko Krude,Arpad von Moers,Maarten Reeser,Timothy Barrett,Edna E. Mancilla,Johan Svensson,Monique H. A. Kester,George G. J. M. Kuiper,Sahila Balkassmi,André G. Uitterlinden,Josef Koehrle,Patrice Rodien,Andrew P. Halestrap,Theo J. Visser +16 more
TL;DR: It is suggested that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.
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An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity.
Peter Kuehnen,Mona Mischke,Susanna Wiegand,Christine Sers,Bernhard Horsthemke,Susanne Lau,Thomas Keil,Young-Ae Lee,Annette Grueters,Heiko Krude +9 more
TL;DR: This work found a hypermethylation variant targeting individual CpGs at the intron2–exon3 boundary of the POMC gene by bisulphite sequencing that was significantly associated with obesity.
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Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8
Heike Biebermann,Petra Ambrugger,Patrick Tarnow,Arpad von Moers,Ulrich Schweizer,Annette Grueters +5 more
TL;DR: The clinical and biochemical features in response to thyroid hormone administration of a boy carrying an MCT8 mutation (A150V) in the second transmembrane domain are described, opening a wide field of possible interaction within the central nervous system.
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Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss
Anna Rajab,Daniel Kelberman,Sandra C. P. De Castro,Heike Biebermann,Hala Shaikh,Kerra Pearce,Catherine M. Hall,Guftar Shaikh,Dianne Gerrelli,Annette Grueters,Heiko Krude,Mehul T. Dattani +11 more
TL;DR: The phenotypic spectrum associated with LHX3 mutations is extended to encompass variable sensorineural hearing loss and a possible interaction between LHx3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development is suggested.
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Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.
A. Thorwarth,I. Mueller,Heike Biebermann,Hans-Hilger Ropers,Annette Grueters,Heiko Krude,Reinhard Ullmann +6 more
TL;DR: The high rate of chromosomal changes in TD argues for an involvement of CNVs in the etiology of this disease, and the lack of recurrent aberrations suggests that the genetic causes of TD are heterogenous and not restricted to specific genomic hot spots.