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  1. Beyond black-box models: explainable AI for embryo ploidy prediction and patient-centric consultation

    Purpose

    To determine if an explainable artificial intelligence (XAI) model enhances the accuracy and transparency of predicting embryo ploidy status...

    Thi-My-Trang Luong, Nguyen-Tuong Ho, ... Chii-Ruey Tzeng in Journal of Assisted Reproduction and Genetics
    Article 04 July 2024
  2. Research Hotspots and Development Trends on Apolipoprotein B in the Field of Atherosclerosis: A Bibliometric Analysis

    Background

    Cardiovascular diseases caused by atherosclerosis (AS) are the leading causes of disability and death worldwide. Apolipoprotein B (ApoB),...

    **g Cui, Yan Zhang, ... Ningkun Zhang in Molecular Biotechnology
    Article 04 July 2024
  3. The chromatin accessibility and transcriptomic landscape of the aging mice cochlea and the identification of potential functional super-enhancers in age-related hearing loss

    Background

    Presbycusis, also referred to as age-related hearing loss (ARHL), is a condition that results from the cumulative effects of aging on an...

    Chanyuan Zhang, Ting Yang, ... Wei Yuan in Clinical Epigenetics
    Article Open access 04 July 2024
  4. Population Viability and Genetic Structure of the Last Remaining Population of the Critically Endangered Gray Snub-Nosed Monkey (Rhinopithecus brelichi)

    Habitat destruction, land conversion, and forest fragmentation over the past several decades have resulted in major declines and local extirpation of...

    Yanqing Guo, Paul A. Garber, ... Jiang Zhou in International Journal of Primatology
    Article 04 July 2024
  5. Quality of life in patients with acromegaly: a sco** review

    Purpose

    To evaluate the available evidence regarding the quality of life (QoL) in patients with acromegaly, by synthesizing the psychosocial factors...

    Wei Wang, Ting Yang, Qinghua Huang in Orphanet Journal of Rare Diseases
    Article Open access 04 July 2024
  6. Analysis of human papillomavirus type 16 E4, E5 and L2 gene variations among women with cervical infection in **njiang, China

    Background

    There is a high incidence of cervical cancer in **njiang. Genetic variation in human papillomavirus may increase its ability to invade,...

    Haozheng Cheng, Yangliu Dong, ... Zemin Pan in BMC Medical Genomics
    Article Open access 04 July 2024
  7. Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid sco** review of available tools and domains

    Background

    Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders, consisting of over 70 diseases that are characterised...

    Emily McDool, Philip Powell, Jill Carlton in Orphanet Journal of Rare Diseases
    Article Open access 04 July 2024
  8. Genetic diversity of North African populations in the 17q21 genomic region

    The demographic history of human populations in North Africa has been characterized by complex migration processes that have determined the current...

    Mohsen Messaoudi, Andrew J. Pakstis, ... Lotfi Cherni in Mammalian Genome
    Article 04 July 2024
  9. LncRNA BBOX1-AS1 Contributes to Laryngeal Carcinoma Progression by Recruiting SRSF1 to Maintain EFNB2 mRNA Stability

    Laryngeal cancer is a common malignancy of the larynx with a generally poor prognosis. This study systematically assessed the functional role of...

    **aowen Zhu, Xuan Li, ... Jian Ni in Biochemical Genetics
    Article 04 July 2024
  10. Monitoring of controlled ovarian stimulation in IVF

    Since the inception of in vitro fertilization (IVF), monitoring of controlled ovarian stimulation (COS) has traditionally involved numerous...

    Shahar Kol, Juan Carlos Castillo Farfan, ... Alexander M. Quaas in Journal of Assisted Reproduction and Genetics
    Article Open access 04 July 2024
  11. Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility

    Purpose

    To identify novel variants in ACTL9 and new phenotypes responsible for male infertility.

    Methods

    Genomic DNA was extracted from peripheral...

    Qi Li, Yilian Huang, ... **g Dai in Journal of Assisted Reproduction and Genetics
    Article 04 July 2024
  12. A pilot longitudinal study of decrease in cognitive functions during the most painful day of the period among women with primary dysmenorrhea

    Purpose

    Painful menstruation is a common problem associated with many limitations in day-to-day functioning. There is limited research on the...

    Julia Kluska, Ewa Malinowska, Joachim Kowalski in Archives of Gynecology and Obstetrics
    Article Open access 04 July 2024
  13. VirRep: a hybrid language representation learning framework for identifying viruses from human gut metagenomes

    Identifying viruses from metagenomes is a common step to explore the virus composition in the human gut. Here, we introduce VirRep, a hybrid language...

    Yanqi Dong, Wei-Hua Chen, **ng-Ming Zhao in Genome Biology
    Article Open access 04 July 2024
  14. LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads

    Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in...

    Helyaneh Ziaei Jam, Justin M. Zook, ... Melissa Gymrek in Genome Biology
    Article Open access 04 July 2024
  15. Chorio-retinal vessel density in women affected by functional hypothalamic amenorrhea: a monocentric observational cross-sectional study to evaluate the impact of hypoestrogenism on chorio-retinal vascularization

    Purpose

    Functional hypothalamic amenorrhea (FHA) is characterized by an estrogen deficiency which in turn can cause vascular dysfunction. The aim of...

    Alice Diterlizzi, Anna Tropea, ... Rosanna Apa in Archives of Gynecology and Obstetrics
    Article Open access 04 July 2024
  16. Occupancy of Sympatric Central Chimpanzee (Pan troglodytes troglodytes) and Western Lowland Gorilla (Gorilla gorilla gorilla) in Campo Ma’an Conservation Area, Southern Cameroon

    Sympatric primate species coexist in tropical communities through interactions with the abiotic environment and other species. Determining the...

    Emily Collins, Robert B. Weladji in International Journal of Primatology
    Article 04 July 2024
  17. LINE1 mediates long-range DNA interactions

    Yonghao Liang, Ting Wang in Nature Genetics
    Article 04 July 2024
  18. A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review

    Background

    The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this...

    Nahid Rezaie, Nader Mansour Samaei, ... Abolfazl Amini in BMC Medical Genomics
    Article Open access 04 July 2024
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