Rajesh V Thakker
Overview
Explore the profile of Rajesh V Thakker including associated specialties, affiliations and a list of published articles.
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218
Citations
7476
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Recent Articles
1.
Hannan F, Kooblall K, Stevenson M, Elajnaf T, Liu F, Lines K, et al.
J Biol Chem
. 2025 Mar;
:108404.
PMID: 40086735
Germline gain-of-function mutations of the calcium-sensing receptor (CaSR) result in autosomal dominant hypocalcemia type 1 (ADH1), which may cause symptomatic hypocalcemia with low parathyroid hormone (PTH) concentrations. Negative allosteric CaSR...
2.
Ear P, Marinoni I, Dayton T, Guenter R, Quelle D, Battistella A, et al.
Endocr Oncol
. 2025 Jan;
4(1):e240055.
PMID: 39822778
Current models for the study of neuroendocrine tumours (NETs) are severely limited. While (e.g. cell lines), (e.g. organoids) and (e.g. mice) models all exist, each has limitations. To address these...
3.
English K, Goldsworthy M, Willis B, Kooblall K, Birla S, Selberherr A, et al.
Int J Cancer
. 2024 Nov;
156(5):980-992.
PMID: 39579056
Gastroenteropancreatic neuroendocrine tumours (GEP-NETs), which may be hormone secreting (e.g., gastrinomas and insulinomas) or non-secreting (also known as non-functioning NETs) are associated with severe morbidity and have a median overall...
4.
Zhou W, van de Laarschot D, van Rooij J, Koedam M, Nguyen H, Uitterlinden A, et al.
J Bone Miner Res
. 2024 Nov;
40(1):69-78.
PMID: 39485938
Atypical femur fractures (AFFs) are rare adverse events associated with bisphosphonate use, having unclear pathophysiology. AFFs also cluster in families and have occurred in patients with monogenetic bone diseases sometimes...
5.
Zhou W, As J, Shore-Lorenti C, Nguyen H, van de Laarschot D, Sztal-Mazer S, et al.
J Bone Miner Res
. 2024 Aug;
39(9):1315-1326.
PMID: 39126371
Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger...
6.
Hannan F, Leow M, Lee J, Kovats S, Elajnaf T, Kennedy S, et al.
Nat Rev Endocrinol
. 2024 Jul;
20(11):673-684.
PMID: 39080505
Climate change is increasing both seasonal temperatures and the frequency and severity of heat extremes. As the endocrine system facilitates physiological adaptations to temperature changes, diseases with an endocrinological basis...
7.
Kooblall K, Stevenson M, Heilig R, Stewart M, Wright B, Lockstone H, et al.
JBMR Plus
. 2024 Jun;
8(7):ziae060.
PMID: 38827116
Nuclear factor I/X () mutations are associated with 2 skeletal dysplasias, Marshall-Smith (MSS) and Malan (MAL) syndromes. encodes a transcription factor that regulates expression of genes, including Bobby sox ()...
8.
English K, Lines K, Thakker R
Hormones (Athens)
. 2023 Dec;
23(1):3-14.
PMID: 38038882
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or...
9.
Pagnamenta A, Camps C, Giacopuzzi E, Taylor J, Hashim M, Calpena E, et al.
Genome Med
. 2023 Nov;
15(1):94.
PMID: 37946251
Background: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting,...
10.
Knopfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, et al.
J Invest Dermatol
. 2023 Oct;
144(4):820-832.e9.
PMID: 37802294
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain...