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Tendon-targeted knockout of collagen XI disrupts patellar and Achilles tendon structure and mechanical properties during murine postnatal development.
Connect Tissue Res
December 2024
McKay Orthopaedic Research Laboratory, Department of Orthopaedic Surgery, University of Pennsylvania, Philadelphia, PA, USA.
Background: Collagen XI is a fibril-forming collagen typically associated with type II collagen tissues but is also expressed in type I collagen-rich tendons, especially during development. We previously showed that tendon-targeted (Scx-Cre) Col11a1 knockout mice have smaller tendons in adulthood with aberrant fibril structure and impaired mechanical properties. However, the manifestation of this phenotype is not clearly understood.
View Article and Find Full Text PDFHeterozygous COL11A1 mutation associated with congenital cataract, lens subluxation, and zonular loss.
Can J Ophthalmol
November 2024
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.
Ann Pediatr Endocrinol Metab
April 2024
Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
May 2024
Graduate Training Base of Jinzhou Medical University, Chaoyang Central Hospital, Chaoyang, Liaoning 122000, China.
Objective: To explore the genetic etiology of a fetus with short limbs identified by prenatal ultrasonography.
Methods: A fetus detected with short limb malformations at Shengjing Hospital Affiliated to China Medical University on October 25, 2021 was selected as the study subject. Prenatal ultrasound and post-abortion imaging were carried out to determine the phenotypic characteristics of the fetus.
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
Genes (Basel)
April 2024
Department of Medical Genetics, University of British Columbia, C234-4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Recently, an autosomal recessive subtype of connective tissue disorder within the spectrum of Ehlers-Danlos syndrome (EDS), named classical-like EDS type 2 (clEDS2), was identified. clEDS2 is associated with biallelic variants in the adipocyte enhancer binding protein 1 () gene, specifically, affecting its aortic carboxypeptidase-like protein (ACLP) isoform. We described the 15th patient (13th family) diagnosed with clEDS2.
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