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ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFLee's TRIAD-osteoporosis, fragility fracture, and bone health optimization.
Arch Osteoporos
January 2025
Beacon Hospital, 1, Jalan 215, Section 51, Off Jalan Templer, 46050, Petaling Jaya, Selangor, Malaysia.
Unlabelled: Osteoporosis, fragility fractures, and bone health optimization share the same pathophysiology, diagnostic tools, risk assessment, and treatments. Grouping them into "Lee's TRIAD" allows surgeons and physicians to collaborate more efficiently, using unified principles and strategies for managing these conditions.
Purpose: The primary goal of osteoporosis management is to prevent fragility fractures, which occur from falls from standing height or less in individuals over fifty.
Evolution of sleep disordered breathing in infants with achondroplasia.
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFLinking Creatinine-to-Body Weight Ratio With Diabetes Incidence: A Multiethnic Malaysian Cohort Study.
J Diabetes
January 2025
UKM Medical Molecular Biology Institute (UMBI), Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
Background: Emerging evidence suggests that the creatinine-to-body weight (Cre/BW) ratio is a predictor for incident diabetes in the Asian population. This study examined the association between Cre/BW ratio and incident diabetes, as well as the relationship between Cre/BW ratio and skeletal muscle and body fat mass in a multiethnic Malaysian cohort.
Methods: A total of 13 047 eligible participants were selected from 119 560 The Malaysian Cohort participants.
Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.
Cell Death Dis
January 2025
Department of Anatomical, Histological, Forensic Sciences and Orthopedics, Sapienza University of Rome, 00161, Rome, Italy.
Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. Little is known about the different roles of the SGC beyond the dystrophin glycoprotein complex (DGC) structural role.
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