Results 41 to 50 of about 198 (133)

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 2, Page 229-247, February 2023., 2023
ABSTRACT Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease‐causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these ...
Dylan J.M. Bergen   +19 more
wiley   +1 more source

CD38 Drives Progress of Osteoarthritis by Affecting Cartilage Homeostasis

open access: yesOrthopaedic Surgery, Volume 14, Issue 5, Page 946-954, May 2022., 2022
CD38 is a membrane‐bound protein. This study primarily implicates CD38 as an important regulator of chondrogenic differentiation. Inhibition of CD38 demonstrated protection against cartilage degeneration, which suggests that CD38 could be a potential therapeutic target for OA.
Jin‐jin Ma   +9 more
wiley   +1 more source

Mouse models of patent ductus arteriosus (PDA) and their relevance for human PDA

open access: yesDevelopmental Dynamics, Volume 251, Issue 3, Page 424-443, March 2022., 2022
Key Findings Mouse models of patent ductus arteriosus (PDA) are informative for human PDA. Human single‐gene disorders with a PDA phenotype reveal interacting networks that contribute to regulation of DA patency and closure. Cross‐species correlations identify pathways of interest for development of PDA therapeutics. Abstract The ductus arteriosus (DA)
Michael T. Yarboro   +4 more
wiley   +1 more source

PB2553: GENOTYPIC CHARACTERIZATION OF RARE INHERITED ANAEMIAS USING NEXT GENERATION SEQUENCING METHODS

open access: yes, 2023
HemaSphere, Volume 7, Issue S3, August 2023.
Ganesh Kumar Viswanathan   +6 more
wiley   +1 more source

Immune‐mediated inflammatory diseases of the gastrointestinal tract: Beyond Crohn's disease and ulcerative colitis

open access: yesJGH Open, Volume 6, Issue 2, Page 100-111, February 2022., 2022
Immune‐mediated inflammatory diseases (IMIDs) of the gastrointestinal tract including inflammatory bowel disease (IBD) are a diverse group of complex inflammatory diseases that share similar pathophysiology. IMIDs other than IBD can have similar clinical features causing diagnostic and therapeutic challenges.
Sudheer K Vuyyuru   +3 more
wiley   +1 more source

A Rare Cause of Refractory Anaemia hidden between Folds

open access: yes, 2023
British Journal of Haematology, Volume 202, Issue 4, Page 712-712, August 2023.
Syna Hamani   +3 more
wiley   +1 more source

Doege-Potter Syndrome with a Benign Solitary Fibrous Tumor: A Case Report and Literature Review

open access: yesCase Reports in Oncology, 2021
Doege-Potter syndrome is a rare paraneoplastic syndrome that is often diagnosed incidentally during the workup of hypoglycemia of unclear etiology. It is characterized by a non-islet cell tumor hypoglycemia secondary to excessive production of partially ...
Turab Mohammed   +5 more
doaj   +1 more source

An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia

open access: yesJournal of Bone and Mineral Research, Volume 37, Issue 1, Page 12-20, January 2022., 2022
ABSTRACT Because of their rarity, diseases characterized by chronic hypophosphatemia can be underrecognized and suboptimally managed, resulting in poor clinical outcomes. Moreover, serum phosphate may not be measured routinely in primary care practice.
Fahad Aljuraibah   +11 more
wiley   +1 more source

Retinoic Acid Receptor Gamma (RARγ) Promotes Cartilage Destruction through Positive Feedback Activation of NF‐κB Pathway in Human Osteoarthritis

open access: yesMediators of Inflammation, Volume 2022, Issue 1, 2022., 2022
Osteoarthritis (OA) is a severe inflammation‐related disease which leads to cartilage destruction. The retinoic acid receptor gamma (RARγ) has been indicated to be involved in many inflammation processes. However, the role and mechanism of RARγ in cartilage destruction caused by inflammation in OA are still unknown.
Yue-Wei Yu   +9 more
wiley   +1 more source

Pachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features.
Yacoba Atiase   +6 more
doaj   +1 more source

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