Results 211 to 220 of about 3,122,739 (367)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

A transfer learning-based approach for automated bone fracture classification in X-ray imaging. [PDF]

open access: yesTher Adv Musculoskelet Dis
Bhuria R   +6 more
europepmc   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng   +8 more
wiley   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun   +6 more
wiley   +1 more source

Neutralizing hepatic apolipoprotein E enhances aged bone fracture healing. [PDF]

open access: yesBone Res
Huang M   +4 more
europepmc   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen   +9 more
wiley   +1 more source

Panx3 deficiency in mice impairs bone fracture healing and causes transient hypoglycemia in neonatal animals. [PDF]

open access: yesMol Med
Jiang S   +11 more
europepmc   +1 more source

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