Results 91 to 100 of about 20,422 (245)

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

Severe Osteoporosis With Pathogenic LRP5 Variant

JCEM Case Reports
Abstract A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema.
Felicity Stringer, Natalie A Sims, Nirupa Sachithanandan, Jasna Aleksova   +3 more
openaire   +3 more sources

Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand [PDF]

Science Translational Medicine, 2018
Wnt1 is a physiologically relevant bone-anabolic molecule that does not require the expression of the bone-anabolic Wnt co-receptor Lrp5.
Mona Neven, Daniela Keller, Stephanie Peters, Julia Luther, Andreas Trumpp, Till Koehne, Nannan Liao, Sebastian Rosigkeit, Ralf Oheim, Thorsten Schinke, Tim Rolvien, Stefan Teufel, Lorenz Ulsamer, Stefan Mundlos, Stefan Mundlos, Timur A. Yorgan, Jean-Pierre David, Michaela Schweizer, Michael Amling, Uwe Kornak, Uwe Kornak, Nele Vollersen, Ernesto Bockamp   +22 more
openaire   +5 more sources

Lrp4, a novel receptor for Dickkopf 1 and sclerostin, is expressed by osteoblasts and regulates bone growth and turnover in vivo. [PDF]

PLoS ONE, 2009
Lrp4 is a multifunctional member of the low density lipoprotein-receptor gene family and a modulator of extracellular cell signaling pathways in development. For example, Lrp4 binds Wise, a secreted Wnt modulator and BMP antagonist.
Hong Y Choi, Marco Dieckmann, Joachim Herz, Andreas Niemeier   +3 more
doaj   +1 more source

BMP signalling in colorectal cancer: losing the yin to WNTs yang

The Journal of Pathology, Volume 266, Issue 3, Page 280-291, July 2025.
Abstract Colorectal cancer (CRC) is the third most common form of cancer globally, and arises from the hyperproliferation of epithelial cells in the intestine. The architecture and maintenance of these cells is governed by two major signalling pathways working in a counter‐gradient: the stem cell WNT signalling pathway, and the prodifferentiation bone ...
Eloise Clarkson, Annabelle Lewis
wiley   +1 more source

Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations. [PDF]

, 2014
CONTEXT: The role and importance of circulating sclerostin is poorly understood. High bone mass (HBM) caused by activating LRP5 mutations has been reported to be associated with increased plasma sclerostin concentrations; whether the same applies to HBM ...
Duncan, Emma L, Fraser, William D, Gregson, Celia L, McCloskey, Eugene V, Poole, Kenneth ES, Rittweger, Jörn, Smith, George Davey, Tobias, Jonathan H   +7 more
core   +2 more sources

The dark sides of the GPCR tree ‐ research progress on understudied GPCRs

British Journal of Pharmacology, Volume 182, Issue 14, Page 3109-3134, July 2025.
Abstract A large portion of the human GPCRome is still in the dark and understudied, consisting even of entire subfamilies of GPCRs such as odorant receptors, class A and C orphans, adhesion GPCRs, Frizzleds and taste receptors. However, it is undeniable that these GPCRs bring an untapped therapeutic potential that should be explored further.
Magdalena M. Scharf, Laura J. Humphrys, Sandra Berndt, Antonella Di Pizio, Juliane Lehmann, Ines Liebscher, Alessandro Nicoli, Masha Y. Niv, Lior Peri, Hannes Schihada, Gunnar Schulte   +10 more
wiley   +1 more source

Serum serotonin levels and bone in rheumatoid arthritis patients [PDF]

, 2017
In rheumatoid arthritis (RA), a disease characterized by bone loss, increased levels of serotonin have been reported. Recent studies have demonstrated a role for circulating serotonin as a regulator of osteoblastogenesis, inhibiting bone formation. Thus,
Bernardes, M, Costa, L, Lucas, R, Martins, MJ, Pereira, J, Simões-Ventura, F, Vieira, T   +6 more
core   +1 more source

Melatonin: A Potential Therapy for Osteoporosis With Insights Into Molecular Mechanisms

Journal of Pineal Research, Volume 77, Issue 4, July 2025.
ABSTRACT Melatonin is a versatile neurohormone with diverse molecular functions, including sleep regulation, inflammation reduction, antioxidant activity, immune modulation, and anticancer properties. In bone metabolism, it promotes osteoblast formation, inhibits osteoclast activity, and synchronizes skeletal tissue rhythms to support bone health.
Ko‐Hsiu Lu, Yi‐Hsien Hsieh, Renn‐Chia Lin, Meng‐Ying Tsai, Shun‐Fa Yang   +4 more
wiley   +1 more source

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis [PDF]

, 2018
Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood.
Camacho, António, Cancela, M. Leonor, Cohen-Solal, Martine, Hang Korng, Ea, Ostertag, Agnès, Pinto, I. Jorge, Porto, Graça, Simão, Márcio   +7 more
core   +4 more sources