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Genome-Wide Association Studies and Runs of Homozygosity Reveals Genetic Markers Associated with Reproductive Performance in Korean Duroc, Landrace, and Yorkshire Breeds.
Genes (Basel)
October 2024
Department of Animal Science and Technology, Sunchon National University, Suncheon 57922, Republic of Korea.
Article Synopsis
- * Researchers analyzed data from 7488 breeding pigs and discovered specific SNP markers linked to reproductive traits; different genes were found in each breed that impact various biological functions.
- * The findings offer valuable insights for enhancing breeding strategies aimed at improving pig reproductive efficiency, which could lead to economic gains in the industry.
Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.
Lab Med
September 2024
Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Warsaw, Poland.
Article Synopsis
- Cartilage hair hypoplasia (CHH) is a rare genetic disorder that can cause anemia, but there hasn't been a thorough review on this issue until now.
- The article examines studies on CHH-related anemia published between 1981 and 2022, highlighting that macrocytic anemia is common and blood transfusions are frequently used as treatment.
- Guidelines suggest using iron chelation therapy for patients needing multiple transfusions and emphasize the importance of regular monitoring of anemia symptoms and overall health, while future research should look into the erythroid system in a broader group of CHH patients.
A rare case of skeletal dysplasia: biallelic variant in gene.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatric Endocrinology, Dr. Behçet Uz Training and Research Hospital, University of Health Science, Izmir, Türkiye.
Article Synopsis
- SEMD-ACAN is a rare genetic disorder caused by mutations in the ACAN gene, leading to problems in cartilage development and resulting in short stature and various skeletal abnormalities.
- A case study of a 9-year-old girl illustrated severe growth retardation, distinct facial features, and other skeletal issues, alongside her brother who had milder symptoms.
- The findings emphasize the need for genetic testing in patients displaying symptoms of SEMD-ACAN, as early diagnosis can help understand and manage the condition better.
Ocular findings in Jansen metaphyseal chondrodysplasia.
JBMR Plus
September 2024
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, United States.
Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans.
View Article and Find Full Text PDFCollagen type X expression and chondrocyte hypertrophic differentiation during OA and OS development.
Am J Cancer Res
April 2024
Department of Hematological Laboratory Science, Jiangsu Key Laboratory of Medical Science and Laboratory Medicine, School of Medicine, Jiangsu University Zhenjiang 212013, Jiangsu, China.
Chondrocyte hypertrophy and the expression of its specific marker, the collagen type X gene (), constitute key terminal differentiation stages during endochondral ossification in long bone development. Mutations in the gene are known to cause schmid type metaphyseal chondrodysplasia (SMCD) and spondyloepiphyseal dyschondrodysplasia (SMD). Moreover, abnormal expression and aberrant chondrocyte hypertrophy are strongly correlated with skeletal diseases, notably osteoarthritis (OA) and osteosarcoma (OS).
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