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Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
Medicina (Kaunas)
November 2024
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania.
is a rare group of genetic conditions where individuals experience severe growth restriction, both in the womb and after birth. From as early as the fetal stage, those affected are significantly smaller than their peers. What makes PD distinct is its slow but steady growth pattern, resulting in proportionate dwarfism, where all parts of the body are equally shortened.
View Article and Find Full Text PDFSeckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.
Int J Clin Pediatr Dent
February 2024
Department of Pedodontics and Preventive Dentistry, Maitri Dental College and Research Centre, Durg, Chhattisgarh, India.
Unlabelled: Seckel syndrome, also commonly called Seckel dwarfism, is a rare congenital disorder and always associated with severe growth retardation . This retarded growth lingers on and causes serious developmental deformities ensuing to short stature, microcephaly, mental retardation, and a beak-like nose. This case report intends to present an interesting case of a 14-year-old female patient with various clinical manifestations, typical radiographic features, and characteristic dental manifestations correlated with the literature.
View Article and Find Full Text PDFNinein domains required for its localization, association with partners dynein and ensconsin, and microtubule organization.
Mol Biol Cell
September 2024
Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, Florida, 32306-4300.
Ninein (Nin) is a microtubule (MT) anchor at the subdistal appendages of mother centrioles and the pericentriolar material (PCM) of centrosomes that also functions to organize MTs at noncentrosomal MT-organizing centers (ncMTOCs). In humans, the gene is mutated in Seckel syndrome, an inherited developmental disorder. Here, we dissect the protein domains involved in Nin's localization and interactions with dynein and ensconsin (ens/MAP7) and show that the association with ens cooperatively regulates MT assembly in fat body cells.
View Article and Find Full Text PDFExamination of 3D sella turcica models in three species of ruminants.
Anat Histol Embryol
July 2024
Department of Anatomy, Faculty of Veterinary Medicine, Bingöl of University, Bingöl, Turkey.
Sella turcica is an important anatomical structure that contains the pituitary gland. Changes observed on the sella turcica facilitate the identification of diseases such as Down syndrome, Seckel syndrome and tuberculum sellae meningioma in humans. Therefore, studies in this region are critical for a better understanding of sella turcica.
View Article and Find Full Text PDFDNA binding and bridging by human CtIP in the healthy and diseased states.
Nucleic Acids Res
August 2024
DNA:Protein Interactions Unit, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK.
The human DNA repair factor CtIP helps to initiate the resection of double-stranded DNA breaks for repair by homologous recombination, in part through its ability to bind and bridge DNA molecules. However, CtIP is a natively disordered protein that bears no apparent similarity to other DNA-binding proteins and so the structural basis for these activities remains unclear. In this work, we have used bulk DNA binding, single molecule tracking, and DNA bridging assays to study wild-type and variant CtIP proteins to better define the DNA binding domains and the effects of mutations associated with inherited human disease.
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