Results 171 to 180 of about 385,840 (284)

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Engineered Exosomal miR‐146a‐5p Reprograms BMSC Fate and Restores Mitochondrial Homeostasis in Glucocorticoid‐Induced Osteonecrosis of Femoral Head

Advanced Science, Volume 13, Issue 49, 3 September 2026.
Exosomal miR‐146a‐5p is identified as a pivotal regulator in steroid‐induced osteonecrosis. Its reduction activates NF‐κB signaling, compromises mitophagy, and disrupts mitochondrial bioenergetics, resulting in autophagic disequilibrium. Engineered exosomes delivering miR‐146a‐5p reinstate mitochondrial function, augment oxidative phosphorylation and ...
Zehui Lv, Xuejie Cai, Yiming Xu, Xingdong Yang, Ruoying Wang, Han Wang, Yixin Bian, Jiawei Xu, Jiao Lu, Lulu Liu, Yingjie Wang, Jibin Song, Bin Feng, Xisheng Weng   +13 more
wiley   +1 more source

Exposure to polylactic acid microplastics during puberty increases the risk of skeletal dysplasia by disrupting arachidonic acid metabolism in osteoblasts. [PDF]

Part Fibre Toxicol
Zhang Y, Cai Z, Luo X, Chen H, Zhang X, Pan C.   +5 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia. [PDF]

Congenit Anom (Kyoto)
Shimura K, Tsujioka Y, Kijima T, Ichihashi Y, Kushima R, Nishimura G, Hasegawa T, Narumi S.   +7 more
europepmc   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +1 more source

Report on the 13th international workshop on the CCN family of genes and inaugural ARBIOCOM conference, Nice, France

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
Celebration of the 13th ICCNS meeting joint to the 1st ARBIOCOM Conference held on the site of Nice in December 2025. Abstract The 13th International Workshop on the CCN Family of Genes, held in Nice as part of the inaugural ARBIOCOM World Conference, brought together investigators with diverse research backgrounds, disciplines, and expertise. Building
Bernard Perbal, Ralf Weiskirchen, Annick Perbal, Brahim Chaqour   +3 more
wiley   +1 more source

Case Report: Constraint led strength and conditioning for Paralympic throwers with skeletal dysplasia. [PDF]

Front Sports Act Living
Judge LW, Garcia-Carrillo E.
europepmc   +1 more source

Clinical approach on skeletal dysplasia from the viewpoint of clinical genetics

, 2014
Chung, BHY
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