Rajesh V. Thakker
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View article: Best practice recommendations for the diagnosis and management of hypoparathyroidism
Best practice recommendations for the diagnosis and management of hypoparathyroidism Open
View article: Treatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis
Treatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis Open
None.
View article: Genetic variants predisposing to an increased risk of kidney stone disease
Genetic variants predisposing to an increased risk of kidney stone disease Open
BACKGROUNDKidney stone disease (KSD) affects approximately 10% of adults, is heritable, and is associated with mineral metabolic abnormalities.METHODSGenetic variants and pathways increasing KSD risk via calcium and phosphate homeostasis w…
View article: Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1)
Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1) Open
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 concentrations. Negative allosteric CaSR modul…
View article: Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures Open
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 without bispho…
View article: SUN-343 Expression of Bromodomain and Extra-Terminal (BET) Proteins in Pancreatic Neuroendocrine Tumors and Mechanistic Implications of BET BD1- And BD2-Selective Inhibition
SUN-343 Expression of Bromodomain and Extra-Terminal (BET) Proteins in Pancreatic Neuroendocrine Tumors and Mechanistic Implications of BET BD1- And BD2-Selective Inhibition Open
O.A. Shariq: None. K.E. Lines: None. K.A. English: None. I. Rioja: Employee; Self; GlaxoSmithKline. A. Selberherr: None. H. Ferry: None. A.L. Oberg: None. R. Prinjha: Employee; Self; GlaxoSmithKline. D. Richards: None. R.V. Thakker: None. …
View article: Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures
Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures Open
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 set of unrelated AFF cases u…
View article: Genetic variants predisposing to increased risk of kidney stone disease
Genetic variants predisposing to increased risk of kidney stone disease Open
Kidney stones (KS) are common, heritable, and associated with mineral metabolism abnormalities. We used Mendelian randomization and colocalization to identify variants predicted to increase KS risk via increased serum calcium or decreased …
View article: Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes Open
Nuclear factor I/X (NFIX) mutations are associated with 2 skeletal dysplasias, Marshall-Smith (MSS) and Malan (MAL) syndromes. NFIX encodes a transcription factor that regulates expression of genes, including Bobby sox (BBX) and glial fibr…
View article: NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations
NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations Open
Current models for the study of neuroendocrine tumours (NETs) are severely limited. While in vitro (e.g. cell lines), ex vivo (e.g. organoids) and in vivo (e.g. mice) models all exist, each has limitations. To address these limitations and…
View article: Genetics of hereditary forms of primary hyperparathyroidism
Genetics of hereditary forms of primary hyperparathyroidism Open
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 a…
View article: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Open
View article: GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics Open
View article: GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification Open
View article: SAT218 Refractory Hypocalcemia From Combined Autosomal Dominant Hypocalcemia Type 2 And Postsurgical Hypoparathyroidism
SAT218 Refractory Hypocalcemia From Combined Autosomal Dominant Hypocalcemia Type 2 And Postsurgical Hypoparathyroidism Open
Disclosure: M. Sonmez Ince: None. F. Hannan: None. N. Esfandiari: None. M. Hussain: None. M.R. Haymart: None. R.V. Thakker: None. G.A. Clines: None. Background: Autosomal dominant hypocalcemia type 2 (ADH2), due to activating mutations in …
View article: OR16-03 Epigenetic Studies Of Pancreatic Neuroendocrine Tumours (PNETs) Reveal Decreased DNA Hydroxymethylation In Non-functioning PNETs But Not Insulinomas
OR16-03 Epigenetic Studies Of Pancreatic Neuroendocrine Tumours (PNETs) Reveal Decreased DNA Hydroxymethylation In Non-functioning PNETs But Not Insulinomas Open
Disclosure: K.A. English: None. A. Selberherr: None. O.A. Shariq: None. E. O'Neill: None. K.E. Lines: None. R.V. Thakker: None. Background: DNA methylation and hydroxymethylation (5hmC) are epigenetic alterations that can silence or mainta…
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Cover: Jones methenamine silver (JMS) staining of a renal glomerulus demonstrating mild mesangial matrix expansion secondary to IgA nephropathy from a young male with severe osteoporosis and markedly deranged bone microarchitecture.A poten…
View article: Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1
Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1 Open
Context Familial hypocalciuric hypercalcemia type 1 (FHH-1) defines an autosomal dominant disease, related to mutations in the CASR gene, with mild hypercalcemia in most cases. Cases of FHH-1 with a short QT interval have not been reported…
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Simultaneous near-infrared spectroscopic assessments of the anterio-medial tibia and the lateral head of gastrocnemius.Quantification of haemodynamic variables within the regions of interest (green signal paths) provide novel insights into…
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Cover: Modified Periodic Acid-Schiff (PAS) staining of the distal radial growth plate from a 15-day old mouse (radiocarpal joint is at the top).Cartilage, including calcified cartilage in the metaphyseal chondro-osseous junction, is staine…
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Cover: Histological sections of growth-plate like tissues derived from COL10A1+/+, COL10A1+/-.COL10A1-/-, and COL10A1-/-human iPSCs (from top to bottom) stained with HE, Safranin-O, anti-COL1, anti-COL2, or anti-COL10 antibodies (from left
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High resolution bright-field image (4X) of a Safranin O/Fast Green-stained, mid-coronal section through the distal femoral epiphysis of a 16-week-old mouse with an osteocyte-specific degradation-resistant HIF-2α mutation.Osteocytic HIF-2α …
View article: A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( <scp> <i>NFIX</i> </scp> ) Gene Has Phenotypic Features of <scp>Marshall‐Smith</scp> Syndrome
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( <span> <i>NFIX</i> </span> ) Gene Has Phenotypic Features of <span>Marshall‐Smith</span> Syndrome Open
The nuclear factor I/X ( NFIX ) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and M…
View article: Ed Bd, Masthead, Comm List and TOC
Ed Bd, Masthead, Comm List and TOC Open
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Cover: Deficiency of the Scaffold protein Shank2, when mutated leads to autism spectrum disorders (ASD) causes bone loss in mice, providing a model for impaired bone mass in ASD patients.Microcomputed tomography (microCT) images of whole-,…
View article: The role of DNA methylation in human pancreatic neuroendocrine tumours
The role of DNA methylation in human pancreatic neuroendocrine tumours Open
Pancreatic neuroendocrine tumours (PNETs) are the second most common pancreatic tumour. However, relatively little is known about their tumourigenic drivers, other than mutations involving the multiple endocrine neoplasia 1 ( MEN1) , ATRX …
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Capturing bright Ctsk expression in the spine of Ctsk-Cre+:tdT mice (aged 1 month).tdT expression in the lumbar spine in the left panel (40X) with its representative areas in the right, showing undetectable expression in the growth plate (…
View article: Identification of prolactin receptor variants with diverse effects on receptor signalling
Identification of prolactin receptor variants with diverse effects on receptor signalling Open
The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. However, the molecular pathology and role of PRLR mutations an…
View article: Tumor-induced Osteomalacia: A Comprehensive Review
Tumor-induced Osteomalacia: A Comprehensive Review Open
Tumor-induced osteomalacia (TIO) is an ultrarare paraneoplastic syndrome due to overproduction of fibroblast growth factor 23 (FGF23), with profound effects on patient morbidity. TIO is an underdiagnosed disease, whose awareness should be …
View article: RF19 | PSUN349 Histone Eraser and Reader Targeting Epigenetic Inhibitors Are Effective in Pancreatic Neuroendocrine Tumours
RF19 | PSUN349 Histone Eraser and Reader Targeting Epigenetic Inhibitors Are Effective in Pancreatic Neuroendocrine Tumours Open
Background The 5-year survival for metastatic pancreatic neuroendocrine tumours (PNETs) is <50%, and current therapies are not effective. Thus, there is an unmet clinical need for new therapies for patients with PNETs. PNETs frequently …