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4 documents found
1: Title: Biallelic mutations in PMFBP1 cause acephalic spermatozoa.
Authors: Sha, Yan-Wei, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 95 (2): 277-286, 2019 .
Snippet: Furthermore, immunofluorescence staining in sperm from a normal control showed that PMFBP1 localizes to the head-flagella junction region, and the absence of PMFBP1 was confirmed in patients harboring PMFBP1 mutations.
Affiliation: Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, China. School of Pharmaceutical Sciences, Xiamen University, Xiamen, China. Department of Pathology, Xiamen Maternity and Child Care Hospital, Xiamen, China. School of Medicine, Xiamen University, Xiamen, China. School of Public Health, Xiamen University, Xiamen, China. Laboratory Animal Center, Xiamen University, Xiamen, China. .
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2: Title: Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
Authors: Zhu, Fuxi, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 103 (2): 188-199, 2018 .
Snippet: Here, we identified a homozygous nonsense mutation in the testis-specific gene PMFBP1 using whole-exome sequencing in a consanguineous family with two infertile brothers with acephalic spermatozoa syndrome.
Affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei 230022, China. State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China. School of Life Science, Anhui Medical University, Hefei 230022, China. State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei 230022, China. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei 230022, China. Electronic address: caoyunxia6@126.com. State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address: leways@ioz.ac.cn. .
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3: Title: Increased recycling of polyamines is associated with global DNA hypomethylation in rheumatoid arthritis synovial fibroblasts.
Authors: Karouzakis, Emmanuel, et.al. .
Journal: Arthritis and rheumatism (Arthritis Rheum), Vol. 64 (6): 1809-17, 2012 .
Snippet: The cells were stained for S-adenosyl methionine decarboxylase (AMD), spermidine/spermine N1-acetyltransferase (SSAT1), polyamine-modulated factor 1-binding protein 1 (PMFBP1), solute carrier family 3 member 2 (SLC3A2), DNA methyltransferase 1 (DNMT-1), α9 integrin, and β1 integrin and analyzed by flow cytometry.
Affiliation: University Hospital, Zurich, Switzerland. .
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4: Title: Characterization of a novel gene, sperm-tail-associated protein (Stap), in mouse post-meiotic testicular germ cells.
Authors: Ohuchi, J, et.al. .
Journal: Molecular reproduction and development (Mol Reprod Dev), Vol. 59 (4): 350-8, 2001 .
Snippet: F77 mRNA was not detected in any other organs except the testis of adult fertile mice.
Affiliation: Laboratory of Experimental Animal Science, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060-0818, Japan. .
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