[HTML][HTML] Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease

B Hrdlickova, RC de Almeida, Z Borek… - Biochimica et Biophysica …, 2014 - Elsevier
It has been found that the majority of disease-associated genetic variants identified by
genome-wide association studies are located outside of protein-coding regions, where they …

Parathyroid hormone-related protein: an update

JJ Wysolmerski - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
PTHrP was identified as a cause of hypercalcemia in cancer patients 25 yr ago. In the
intervening years, we have learned that PTHrP and PTH are encoded by related genes that …

Parathyroid hormone-related protein, its regulation of cartilage and bone development, and role in treating bone diseases

TJ Martin - Physiological reviews, 2016 - journals.physiology.org
Although parathyroid hormone-related protein (PTHrP) was discovered as a cancer-derived
hormone, it has been revealed as an important paracrine/autocrine regulator in many …

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

PG Maass, A Aydin, FC Luft, C Schächterle, A Weise… - Nature …, 2015 - nature.com
Cardiovascular disease is the most common cause of death worldwide, and hypertension is
the major risk factor. Mendelian hypertension elucidates mechanisms of blood pressure …

Phosphodiesterase 3A and arterial hypertension

M Ercu, L Markó, C Schächterle, D Tsvetkov, Y Cui… - Circulation, 2020 - Am Heart Assoc
Background: High blood pressure is the primary risk factor for cardiovascular death
worldwide. Autosomal dominant hypertension with brachydactyly clinically resembles salt …

A misplaced lncRNA causes brachydactyly in humans

PG Maass, A Rump, H Schulz… - The Journal of …, 2012 - Am Soc Clin Investig
Translocations are chromosomal rearrangements that are frequently associated with a
variety of disease states and developmental disorders. We identified 2 families with …

PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

A Linglart, H Fryssira, O Hiort… - The Journal of …, 2012 - academic.oup.com
Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple
resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients …

Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life

T Hirai, AS Chagin, T Kobayashi… - Proceedings of the …, 2011 - National Acad Sciences
Parathyroid hormone (PTH)-related protein (PTHrP), regulated by Indian hedgehog and
acting through the PTH/PTHrP receptor (PPR), is crucial for normal cartilage development …

ADAMTS-7 forms a positive feedback loop with TNF-α in the pathogenesis of osteoarthritis

Y Lai, X Bai, Y Zhao, Q Tian, B Liu, EA Lin… - Annals of the …, 2014 - ard.bmj.com
Objective To examine the expression of ADAMTS-7 during the progression of osteoarthritis
(OA), defining its role in the pathogenesis of OA, and elucidating the molecular events …

Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage

M Ercu, S Walter, E Klussmann - Hypertension, 2023 - Am Heart Assoc
Hypertension with brachydactyly (HTNB) represents an autosomal dominant form of
hypertension. It is a rare syndrome, in which the blood pressure can rise by more than 50 …