Results 51 to 60 of about 91,875 (258)

PHGDH‐Mediated Serine Metabolism in Nucleus Pulposus Cells Is a Potential Therapeutic Target for Intervertebral Disc Degeneration

Advanced Science, EarlyView.
When nucleus pulposus cells senesce, PHGDH decreases, reducing serine synthesis and glutathione, impairing antioxidant capacity. The intermediate α‐KG also drops, lowering JMJD3 demethylase activity, increasing H3K27me3 at the Rap1b promoter, and reducing Rap1b expression, whose down‐regulation in turn activates mTORC1 and suppresses autophagy ...
Hao‐Wei Xu, Sheng‐Jie Chang, Xiao‐Wei Liu, Shu‐Bao Zhang, Ying‐Jie Wang, Shan‐Jin Wang   +5 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Loss of ninein interferes with osteoclast formation and causes premature ossification

eLife
Ninein is a centrosome protein that has been implicated in microtubule anchorage and centrosome cohesion. Mutations in the human NINEIN gene have been linked to Seckel syndrome and to a rare form of skeletal dysplasia.
Thierry Gilbert, Camille Gorlt, Merlin Barbier, Benjamin Duployer, Marianna Plozza, Ophélie Dufrancais, Laure-Elene Martet, Elisa Dalbard, Loelia Segot, Christophe Tenailleau, Laurence Haren, Christel Vérollet, Christiane Bierkamp, Andreas Merdes   +13 more
doaj   +1 more source

Clinical and radiologic results of surgicallytreated acetabular fractures

Acta Orthopaedica et Traumatologica Turcica, 2021
Objectives: We evaluated the functional and radiologic results of surgical treatment in patients with displaced acetabular fractures.\nMethods: The study included 21 patients (13 males, 8 females; mean age 35 years; range 21 to 63 years). Before surgery,
Nurzat Elmali, Kadir Ertem, Muharrem Inan, Irfan Ayan, Yurdaer Denizhan   +4 more
doaj  

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Ossification of the ligamentum flavum

, 2017
Ossification of the ligamentum flavum (OLF or OYL: ossification of the yellow ligament) usually occurs at the lower thoracic level and causes various types of neurological symptoms in accordance with the compression level of the spinal cord, the nerve ...
Shigeru Hirabayashi
core   +1 more source

Cutoff Age and Gender Difference for Various Schmeling’s Staging System of Clavicular Ossification.

Journal of Rawalpindi Medical College, 2015
Background: To determine the cut-off ages and its gender differences for various Schmeling’s staging system of clavicular ossification in population of Karachi. Methods: In this cross sectional study non probability, purposive sampling technique was used
Khurshid Nadir
doaj  

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

New techniques for old bones: Morphometric and diffeomorphometric analysis of the bony labyrinth of the Reilingen and Ehringsdorf Neandertals

The Anatomical Record, EarlyView.
Abstract Neandertals are known to possess very distinctive traits in their bony labyrinth morphology, such as an inferiorly positioned posterior canal and a very low number of turns in the cochlea. Hence, the inner ear has been often used to assess the Neandertal status of fragmentary fossils.
Alessandro Urciuoli, Julia Diez‐Valero, Ignacio Martínez, Rolf Quam, Brian A. Keeling, Nicole M. Webb, Mercedes Conde‐Valverde   +6 more
wiley   +1 more source