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Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits.
Vet Sci
December 2024
College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.
Wool quality is a crucial economic trait in Angora rabbits, closely linked to hair follicle (HF) growth and development. Therefore, understanding the molecular mechanisms of key genes regulating HF growth and wool fiber formation is essential. In the study, fine- and coarse-wool groups were identified based on HF morphological characteristics of Zhexi Angora rabbits.
View Article and Find Full Text PDFIncident Vertebral Fractures During Romosozumab Treatment in a Patient With a Pathogenic Variant.
JCEM Case Rep
January 2025
Department of Internal Medicine, Erasmus Medical Center, University Medical Center, 3015 CE, Rotterdam, the Netherlands.
A defect in the canonical Wnt-β-catenin pathway may lead to reduced bone strength and increased fracture risk. Sclerostin is a key inhibitor of this pathway by binding to low-density lipoprotein (LDL) receptor-related protein , thereby reducing bone formation. The effectiveness of romosozumab, a human monoclonal antibody that binds sclerostin and prevents this inhibitory effect, has been questioned in patients with inactivating genetic variants in or .
View Article and Find Full Text PDFA Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.
Cureus
November 2024
Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Polymicrogyria (PMG) is the most common malformation of cortical development (MCD) and presents as an irregularly patterned cortical surface with numerous small gyri and shallow sulci leading to various neurological deficits including developmental delays, intellectual disability, epilepsy, and language and motor issues. The presentation of PMG varies and is often found in conjunction with other congenital anomalies. Histologically, PMG features an abnormal cortical structure and dyslamination, resulting in its classification as a defect of neuronal migration and organization.
View Article and Find Full Text PDFImpaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Ann Intern Med
December 2024
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, and School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (H.B.F.).
Background: Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role.
View Article and Find Full Text PDFLoss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.
J Bone Miner Res
December 2024
Paris Cité University, Reference center for skeletal dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Chondrodysplasias with multiple dislocations are rare skeletal disorders characterized by hyperlaxity, joint dislocations, and growth retardation. Chondrodysplasias with multiple dislocations have been linked to pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis. In this study, by exome sequencing analysis, we identified a homozygous nonsense variant (NM_001297654.
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