Yan-Kun Sha
Liaoning Medical University
5 Papers
5 Citations
Yan-Kun Sha is an academic researcher from Liaoning Medical University. The author has contributed to research in topics: Sperm & PKD1. The author has an hindex of 3, co-authored 5 publications.
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Papers
TSGA10 is a novel candidate gene associated with acephalic spermatozoa.
Yanwei Sha,Yan-Kun Sha,Zhi-Yong Ji,Libin Mei,Lu Ding,Qing Zhang,Ping-Ping Qiu,Shaobin Lin,Xu Wang,Ping Li,Xiaohui Xu,Lin Li +11 more
TL;DR: A 27 years old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate is reported, suggesting the presence of rare sequence variants within TSGA10 may be associated with acephalic spermatozoa in humans.
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A successful pregnancy by intracytoplasmic sperm injection using ejaculate sperm from an infertile man with 46, XX/46, XY true hermaphrodite.
TL;DR: The patient was diagnosed with severe oligospermia, and ICSI was deemed as the only feasible option for conception because the condition is relatively rare and has a diverse phenotype.
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Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease
TL;DR: A pedigree containing nine patients with autosomal dominant PKD (ADPKD) is reported, and a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene is identified, providing a novel sequence variant for the genetic analysis of this disease.
4
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Yan-Kun Sha,Yanwei Sha,Lu Ding,Wei-Wu Liu,Yue-Qiang Song,Jin Lin,Xuemei He,Ping-Ping Qiu,Ling Zhang,Ping Li +9 more
TL;DR: A case of simple virilizing CAH with TARTs in a 15-year-old boy was described in this paper, where the patient showed physical signs of precocious puberty and the levels of blood adrenocorticotropic hormone (ACTH), urinary 17-ketone steroids (17-KS), dehydroepiandrosterone sulfate (DHEA-S), and serum progesterone (PRGE) were elevated.
1
Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation.
Yanwei Sha,Yan-Kun Sha,Zhi-Yong Ji,Lu Ding,Qing Zhang,Honggen Ouyang,Shaobin Lin,Xu Wang,Lin Shao,Chong Shi,Ping Li,Yue-Qiang Song +11 more
TL;DR: It is suggested that single‐cell genome sequencing enables comprehensive chromosomal aneuploidy screening and provides a powerful tool for studying gamete generation from patients carrying chromosomal diseases.