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9 Results Found

  • Article
  • Open Access
1 Citations
1,986 Views
14 Pages

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia

  • Daria Gorodilova,
  • Elena Dadali,
  • Vladimir Kenis,
  • Evgenii Melchenko and ,
  • Daria Akimova,
  • Maria Bulakh,
  • Anna Orlova,
  • Maria Orlova,
  • Olga Shatokhina and
  • Tatiana Markova
  • + 9 authors+ 4 authors

Spondyloepimetaphyseal dysplasia type Isidor-Toutain (RPL13-SEMD) is an autosomal dominant skeletal dysplasia caused by heterozygous pathogenic variants in the RPL13 gene, encoding the ribosomal protein eL13. To date, 13 pathogenic variants in RPL13...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
9 Citations
3,292 Views
21 Pages

24 August 2023

Identifying multi-scale anomalies that have simple forms and geological significance is critical for enhancing the interpretability of gravity and magnetic survey data. In recent years, empirical mode decomposition (EMD), which was developed as a sig...

(This article belongs to the Special Issue Digital Exploration and Assessment of Mineral Resources: Theories, Methods and Achievements)
  • Article
  • Open Access
547 Views
15 Pages

Clinical Characteristics and Prognostic Analysis of Extramedullary Disease in Multiple Myeloma: A 15-Year Retrospective Cohort Study

  • Jingliang Zhao,
  • Qirui Bai,
  • Qile Qiu,
  • Jiaying Song and ,
  • Siyu Kong,
  • Kun Zhu,
  • Yifan Zhang,
  • Shengtao Li,
  • Yanping Ma and
  • Xiaoqi Qin
  • + 6 authors+ 1 author

3 August 2026

Background: Extramedullary disease (EMD) in multiple myeloma (MM) is associated with poor prognosis, yet the clinical distinctions between bone-related EMD (bEMD) and soft tissue-associated EMD (sEMD) remain incompletely characterized. This study aim...

(This article belongs to the Section Clinical Research in Cancer)
  • Article
  • Open Access
24 Citations
7,650 Views
19 Pages

Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells

  • Chathuraka T. Jayasuriya,
  • Fiona H. Zhou,
  • Ming Pei,
  • Zhengke Wang and ,
  • Nicholas J. Lemme,
  • Paul Haines and
  • Qian Chen
  • + 2 authors+ 0 author

21 August 2014

Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). We tested whether MATN3 mutations affect the differentiation of chondroprogenitor an...

(This article belongs to the Special Issue The Chondrocyte Phenotype in Cartilage Biology)
  • Article
  • Open Access
22 Citations
3,629 Views
17 Pages

Automatic Segmentation of Standing Trees from Forest Images Based on Deep Learning

  • Lijuan Shi,
  • Guoying Wang,
  • Lufeng Mo,
  • Xiaomei Yi and ,
  • Xiaoping Wu and
  • Peng Wu
  • + 1 author+ 0 author

3 September 2022

Semantic segmentation of standing trees is important to obtain factors of standing trees from images automatically and effectively. Aiming at the accurate segmentation of multiple standing trees in complex backgrounds, some traditional methods have s...

(This article belongs to the Special Issue Artificial Intelligence in Computer Vision: Methods and Applications)
  • Article
  • Open Access
2,551 Views
17 Pages

Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia

  • Gozde Imren,
  • Beren Karaosmanoglu,
  • Bihter Muratoglu,
  • Cansu Ozdemir and ,
  • Gulen Eda Utine,
  • Pelin Ozlem Simsek-Kiper and
  • Ekim Z. Taskiran
  • + 2 authors+ 0 author

28 January 2025

Skeletal dysplasias, characterized by bone, cartilage, and connective tissue abnormalities, often arise due to disruptions in extracellular matrix (ECM) dynamics and growth factor-dependent signaling pathways. RSPRY1, a secreted protein with RING and...

(This article belongs to the Special Issue Rare Diseases Associated with Short Stature: Genetics, Pathogenesis and Therapy)
  • Article
  • Open Access
38 Citations
8,788 Views
21 Pages

7 February 2017

Ultrasonic guided waves have been extensively applied for non-destructive testing of plate-like structures particularly pipes in past two decades. In this regard, if a structure has a simple geometry, obtained guided waves’ signals are easy to explai...

(This article belongs to the Special Issue Ultrasonic Sensors)
  • Article
  • Open Access

Day Versus Night: Within-Person Associations in Diet Quality Among Shift Workers in Urban Thailand

  • Piraorn Suvanbenjakule,
  • Nusrat Akber,
  • Pepijn Schreinemachers and
  • Nattawirot Mahayot

13 November 2026

Background: As the 24-h economy expands, an increasing share of the global workforce engages in nighttime work. Most previous studies have documented adverse effects among healthcare workers and in high-income countries. Evidence in low-income earner...

(This article belongs to the Section Nutrition and Public Health)
  • Article
  • Open Access
4 Citations
2,363 Views
13 Pages

Trust-Based Decision-Making in the Health Context Discriminates Biological Risk Profiles in Type 1 Diabetes

  • Helena Jorge,
  • Isabel C. Duarte,
  • Carla Baptista,
  • Ana Paula Relvas and
  • Miguel Castelo-Branco

28 July 2022

Theoretical accounts on social decision-making under uncertainty postulate that individual risk preferences are context dependent. Generalization of models of decision-making to dyadic interactions in the personal health context remain to be experime...