ArticleeLife2025
Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
Abstract read
In one paragraph
Article in eLife, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
12 citing papers in PubMed.
- Biallelic loss-of-function variants in DNAH12 cause inner dynein arm defects and sperm head abnormalities leading to male infertility.Journal of assisted reproduction and genetics · 2026Article
- A conserved minimal core and modular extensions make the fungal flagellum.Scientific reports · 2026Article
- Article
- Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.Asian journal of andrology · 2026Article
- DNAH3 interacts with DNALI1 and is required for sperm flagellum function and male fertility.Reproductive biology and endocrinology : RB&E · 2026Article
- A Novel Homozygous Mutation inHuman mutation · 2026Article
- Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.Human genomics · 2025Article
- Genetic variants inThe Libyan journal of medicine · 2025Article
- The essential role of cytoskeleton and ciliary abnormalities in the development of congenital pulmonary airway malformations.Pediatric surgery international · 2025Article
- Article
- A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.Asian journal of andrology · 2025Article
- Fertility test of mice (Bio-protocol · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors.
Menglei YangCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Hafiz Muhammad Jafar HussainCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Manan KhanCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Zubair MuhammadCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Jianteng ZhouCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Ao MaCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Xiongheng HuangCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Jingwei YeCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Min ChenCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Aoran ZhiCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Tao LiuCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Ranjha KhanCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Ali AsimCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Wasim ShahCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Aurang ZebCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Nisar AhmadCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Huan ZhangCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Bo XuCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Hui MaCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Qinghua ShiCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Baolu ShiCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.ORCID https://orcid.org/0000-0002-5791-4300
Funding
Hefei Comprehensive National Science Center, the Joint Fund for New Medicine of USTC YD9100002034Institute of Health and Medicine DJK-LX-2022010National Key Research and Development Program of China 2019YFA0802600National Key Research and Development Program of China 2022YFA0806303National Key Research and Development Program of China 2022YFC2702601Natural Science Foundation of China 32070850Natural Science Foundation of China 32270901Natural Science Foundation of China 82171599Scientific Research Foundation for Scholars of the First Affiliated Hospital of USTC RC2023054
Abstract
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks a well-defined etiology. DNAH12 is a special dynein featured by the absence of a microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger sequencing on infertile patients and fertile controls from six distinct families, we unveiled six biallelic mutations in
Indexed as
Axonemal DyneinsDyneinsInfertility, MaleAnimalsAxonemeDisease Models, AnimalHumansMaleMiceMice, KnockoutMutationSpermatogenesisSpermatozoaSperm TailAxonemal DyneinsDNAH1 protein, humanDyneinsciliadevelopmental biologydyneinflagellageneticsgenomicshumanhuman geneticsinner dynein armsmale infertilitymousesperm flagella
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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.