ArticleFrontiers in endocrinology2021
Novel Loss-of-Function Mutations in
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In one paragraph
Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.3field-weighted citation impact, top 8% of its field
What it found
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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
13 citing papers in PubMed, 22 citations in OpenAlex.
- 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
- Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.Human genetics · 2025Article
- Of mice and men: translating mouse knockout models of human male infertility.Reproduction (Cambridge, England) · 2025Review
- Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.eLife · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Further evidence fromiScience · 2024Article
- Bi-allelic variants inHuman reproduction open · 2024Article
- Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia.Frontiers in endocrinology · 2024Article
- A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort.International journal of molecular sciences · 2023Article
- Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.JCI insight · 2023Article
- Novel compound heterozygous mutations inAsian journal of andrology · 2023Article
- Identification of hub genes associated with head and neck squamous cell carcinoma by integrated bioinformatics approach and RNA-seq validation analysis.American journal of cancer research · 2023Article
- Glomerulocystic Kidney Disease in an Adult with DNAH1 Mutation: A Case Report.Indian journal of nephrologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 4 institutions in 2 countries.
Ranjha KhanFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Qumar ZamanFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Jing ChenFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Manan KhanFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Ao MaFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Jianteng ZhouFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Beibei ZhangFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Asim AliFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Muhammad NaeemMedical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Muhammad ZubairFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Daren ZhaoFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Wasim ShahFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Mazhar KhanFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Yuanwei ZhangFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Bo XuReproductive and Genetic Hospital, The First Affiliated Hospital of University of Science and Technology of China (USTC), Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Huan ZhangFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Qinghua ShiFirst Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China.
Center for Excellence in Molecular Cell Science · CNUniversity of Science and Technology of China · CNChinese Academy of Sciences · CNQuaid-i-Azam University · PK
Funding
No grant is acknowledged in the PubMed record.
Abstract
Male infertility is a prevalent disorder distressing an estimated 70 million people worldwide. Despite continued progress in understanding the causes of male infertility, idiopathic sperm abnormalities such as multiple morphological abnormalities of sperm flagella (MMAF) still account for about 30% of male infertility. Recurrent mutations in
Indexed as
AnimalsDyneinsExome SequencingFemaleHumansInfertility, MaleMaleMiceMice, Inbred C57BLMicrotubule ProteinsMutationPhenotypeSpermatozoaSperm TailTeratozoospermiaDNAH1 protein, humanDyneinsMicrotubule Proteinscentral singletDNAH1male infertilityMMAFmutant mice
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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.