ArticleJournal of medical genetics2020
Homozygous mutations in
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Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43citing papers in PubMed
13.3field-weighted citation impact, top 1% of its field
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 84 citations in OpenAlex.
- CFAP58-deficient human sperm show radial spoke-doublet microtubule interface abnormalities and successful fertilization by ICSI.Journal of assisted reproduction and genetics · 2026Article
- Impact of semen quality on the risk of direct cleavage in human embryos.Journal of assisted reproduction and genetics · 2026Observational
- Human Sperm Centrosome: From Current Evidence to Future Perspectives-A Systematic Review.Life (Basel, Switzerland) · 2026Review
- Centriole Duplication, Maturation, and Transformation During Mammalian Spermatogenesis.Advances in experimental medicine and biology · 2026Review
- EP300-interacting inhibitor of differentiation 3 is required for spermatogenesis in mice.Andrology · 2025Article
- CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies.Journal of cell communication and signaling · 2025Review
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- A subset of evolutionarily conserved centriolar satellite core components is crucial for sperm flagellum biogenesis.Theranostics · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
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- Dzip1 is dynamically expressed in the vertebrate germline and regulates the development of Xenopus primordial germ cells.Developmental biology · 2024Article
- The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Genetic mutation ofLife science alliance · 2024Article
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- CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.Cellular and molecular life sciences : CMLS · 2023Article
- BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.Cellular and molecular life sciences : CMLS · 2023Article
- Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.JCI insight · 2023Article
- Identifying potential biomarkers for non-obstructive azoospermia using WGCNA and machine learning algorithms.Frontiers in endocrinology · 2023Article
- NovelInternational journal of biological sciences · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 7 institutions in 1 country.
Mingrong Lv *Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Wangjie Liu *Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Wangfei Chi *Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, College of Life Sciences, Peking University, Beijing, China.
Xiaoqing Ni *Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Jiajia WangReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Huiru ChengReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Wei-Yu LiObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Shenmin YangCenter for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Huan WuReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Junqiang ZhangReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Yang GaoReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Chunyu LiuObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Caihua LiGenesky Biotechnologies Inc, Shanghai, Shanghai, China.
Chenyu YangCenter of Cryo-Electron Microscopy, Zhejiang University, Hangzhou, China.
Qing TanReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Dongdong TangReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Jingjing ZhangReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Bing SongReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.ORCID 0000-0002-7182-0175
Yu-Jie ChenReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Qiang LiReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Yading ZhongDepartment of Pathology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Zhihua ZhangDepartment of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China.
Hexige SaiyinObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Li JinObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Yuping XuReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Ping ZhouReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Zhaolian WeiReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Chuanmao ZhangKey Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, College of Life Sciences, Peking University, Beijing, China.
Xiaojin HeReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China hxj0117@126.com zhangfeng@fudan.edu.cn caoyunxia6@126.com.ORCID 0000-0001-5919-8478
Feng ZhangObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China hxj0117@126.com zhangfeng@fudan.edu.cn caoyunxia6@126.com.ORCID 0000-0003-4556-8276
Yunxia CaoReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China hxj0117@126.com zhangfeng@fudan.edu.cn caoyunxia6@126.com.
Anhui Medical University · CNFudan University · CNMinistry of Education of the People's Republic of China · CNPeking University · CNNanjing Medical University · CNState Key Laboratory of Oncogene and Related Genes · CNZhejiang University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAsthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several genes including METHODS AND
resultsTwo asthenoteratospermia-affected men with severe MMAF (absent flagella in >90% spermatozoa) from consanguineous families were subjected to whole-exome sequencing. The first proband had a homozygous missense mutation c.188G>A (p.Arg63Gln) of
conclusionOur study strongly suggests that homozygous
Indexed as
Abnormalities, MultipleAdaptor Proteins, Signal TransducingAnimalsAsthenozoospermiaExomeExome SequencingHEK293 CellsHomozygoteHumansInfertility, MaleMaleMiceMice, KnockoutMutationSpermatozoaSperm TailAdaptor Proteins, Signal TransducingDZIP1 protein, humanDzip1 protein, mouseasthenoteratospermiacentrosomeDZIP1flagella
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.