Results 141 to 150 of about 124,017 (271)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Osteocyte Estrogen Receptor β (Ot‐ERβ) Regulates Bone Turnover and Skeletal Adaptive Response to Mechanical Loading Differently in Male and Female Growing and Adult Mice

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 1, Page 186-197, January 2023., 2023
ABSTRACT Age‐related bone loss is a failure of balanced bone turnover and diminished skeletal mechanoadaptation. Estrogen receptors, ERα and ERβ, play critical roles in osteoprotective regulation activated by estrogen and mechanical signals. Previous studies mainly focused on ERα and showed that osteocyte‐ERα (Ot‐ERα) regulated trabecular, but not ...
Xiaoyu Xu   +6 more
wiley   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Reduced Bone Mass and Increased Osteocyte Tartrate‐Resistant Acid Phosphatase (TRAP) Activity, But Not Low Mineralized Matrix Around Osteocyte Lacunae, Are Restored After Recovery From Exogenous Hyperthyroidism in Male Mice

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 1, Page 131-143, January 2023., 2023
ABSTRACT Hyperthyroidism causes secondary osteoporosis through favoring bone resorption over bone formation, leading to bone loss with elevated bone fragility. Osteocytes that reside within lacunae inside the mineralized bone matrix orchestrate the process of bone remodeling and can themselves actively resorb bone upon certain stimuli.
Eva Maria Wölfel   +9 more
wiley   +1 more source

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani   +6 more
wiley   +1 more source

The Effect of Zoledronic Acid on Bone Microarchitecture and Strength after Denosumab and Teriparatide Administration: DATA‐HD Study Extension

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 1, Page 26-34, January 2023., 2023
ABSTRACT The combination of denosumab and teriparatide is an effective treatment strategy in postmenopausal osteoporosis, though skeletal gains are promptly lost when these agents are discontinued. In the DATA‐HD study, we reported that a single dose of zoledronic acid (ZOL) maintains the increases in areal spine and hip bone mineral density (BMD ...
Sabashini K. Ramchand   +6 more
wiley   +1 more source

Progress in research on osteoporosis secondary to SARS‐CoV‐2 infection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review explores the potential mechanisms, complications, risk factors, and future research directions related to osteoporosis secondary to SARS‐CoV‐2 infection. Key mechanisms include an imbalance between osteoclast and osteoblast activity driven by direct viral effects on bone, inflammation, hypoxia, dysregulation of noncoding RNAs, and metabolic
Jinlong Wang   +5 more
wiley   +1 more source

Lipopolysaccharide‐Induced Bone Loss in Rodent Models: A Systematic Review and Meta‐Analysis

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 1, Page 198-213, January 2023., 2023
ABSTRACT Osteoporosis has traditionally been characterized by underlying endocrine mechanisms, though evidence indicates a role of inflammation in its pathophysiology. Lipopolysaccharide (LPS), a component of gram‐negative bacteria that reside in the intestines, can be released into circulation and stimulate the immune system, upregulating bone ...
Kirsten N. Bott   +6 more
wiley   +1 more source

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