Results 201 to 210 of about 163,750 (343)

Efficacy of PVCR for surgical correction of kyphotic deformity with various etiology and restoration of sagittal balance

open access: yesBrain and Spine
Y. Bilge Kagan   +12 more
doaj   +1 more source

Elevated TRIM25 Impairs Poly (ADP‐ribose) Metabolism via PARG Degradation and Mediates Compression‐Induced Intervertebral Disc Degeneration

open access: yesAdvanced Science, Volume 13, Issue 25, 4 May 2026.
TRIM25 acts as a multifunctional hub driving intervertebral disc degeneration under mechanical stress. Mechanical compression significantly upregulates TRIM25 expression, establishing it as a key E3 ubiquitin ligase platform. TRIM25 targets PARG and Ku80 via distinct molecular interfaces, triggering their ubiquitination and degradation.
Zhangrong Cheng   +9 more
wiley   +1 more source

Clinical and radiological outcomes of posterior-only hemivertebra resection and short-segment fusion with pedicle screw fixation in children under the age of 5, followed until skeletal maturity

open access: yesBrain and Spine
Y. Bilge Kagan   +11 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Association Between BMI Z-Score and Postoperative Complications in Pediatric Neuromuscular Scoliosis Surgery. [PDF]

open access: yesGlobal Spine J
Mihas AK   +7 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

A Trustable Spine Abnormalities Classification System Using ResNet50 and VGG16 Supported by Explainable Artificial Intelligence. [PDF]

open access: yesBiomimetics (Basel)
Ahmad MSZ   +7 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

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