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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
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Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFKnights in shining armour and (M)others in life jackets: Women's experiences of advocating for care alone when suffering recurrent early pregnancy loss during the SARS-CoV-2 pandemic.
BMC Public Health
January 2025
Department of Women & Children's Health, King's College London, London, UK.
Background: Recurrent early pregnancy loss [rEPL] is a traumatic experience, marked by feelings such as grief and depression, and often anxiety. Despite this, the psychological consequences of rEPL are often overlooked, particularly when considering future reproductive health or approaching subsequent pregnancies. The SARS-CoV-2 pandemic led to significant reconfiguration of maternity care and a negative impact on the perinatal experience, but the specific impact on women's experience of rEPL has yet to be explored.
View Article and Find Full Text PDFIdentification of heat tolerant lentil genotypes through stress tolerance indices.
Sci Rep
January 2025
Division of Genetics, Indian Agricultural Research Institute, New Delhi, India.
With climate change projections indicating an increase in the frequency of extreme heat events and irregular rainfall patterns globally, the threat to global food security looms large. Terminal heat stress, which occurs during the critical reproductive stage, significantly limits lentil productivity. Therefore, there is an urgent need to improve lentil's resilience to heat stress to sustain production.
View Article and Find Full Text PDFMale sexual and reproductive health in cystic fibrosis: A concept mapping study.
J Cyst Fibros
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Department of Pediatrics, University of Pittsburgh School Of Medicine, USA.
Background: Males with cystic fibrosis (MwCF) face general and disease-specific sexual and reproductive health (SRH) concerns. Using concept mapping (CM), this study identified the SRH topics valued by members of the CF community.
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Low-coverage whole genome sequencing of low-grade dysplasia strongly predicts advanced neoplasia risk in ulcerative colitis.
Gut
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Barts Cancer Institute, Queen Mary University of London, London, UK
Background: The risk of developing advanced neoplasia (AN; colorectal cancer and/or high-grade dysplasia) in ulcerative colitis (UC) patients with a low-grade dysplasia (LGD) lesion is variable and difficult to predict. This is a major challenge for effective clinical management.
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