Research graph
References from Axonemal dynein gene dysfunction as a cause of male infertility: insights from DNAH family mutations. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
External reference
A unique view on male infertility around the globe
10.1186/s12958-015-0032-1 · 2015 · External reference
Proteomic analyses of human sperm cells: understanding the role of proteins and molecular pathways affecting male reproductive health
10.3390/ijms21051621 · 2020 · External reference
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility
10.1371/journal.pgen.1009306 · 2021 · External reference
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
10.1093/molehr/gaab009 · 2021 · External reference
10.1016/j.fertnstert.2021.12.012
10.1016/j.fertnstert.2021.12.012 · External reference
TCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa
10.1073/pnas.1621279114 · 2017 · External reference
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
10.1038/s41467-017-02792-7 · 2018 · External reference
Preimplantation genetic testing for monogenic disorders
10.3390/genes11080871 · 2020 · External reference
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
10.4103/aja202274 · 2022 · External reference
Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse
10.1016/j.ajhg.2018.03.007 · 2018 · External reference
DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes
10.1165/rcmb.2015-0353oc · 2016 · External reference
Direction of flagellum beat propagation is controlled by proximal/distal outer dynein arm asymmetry
10.1073/pnas.1805827115 · 2018 · External reference
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
10.1136/jmg.2008.061176 · 2009 · External reference
Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus
10.1016/j.ajhg.2018.10.016 · 2018 · External reference
Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum
10.1093/humrep/deab200 · 2021 · External reference
Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella
10.1016/j.rbmo.2021.01.011 · 2021 · External reference
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
10.1111/cge.14146 · 2022 · External reference
Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
10.1016/j.isci.2024.110366 · 2024 · External reference
The sperm-specific form of lactate dehydrogenase is required for fertility and is an attractive target for male contraception (a review)
10.1093/biolre/ioaa217 · 2021 · External reference
Structures of radial spokes and associated complexes important for ciliary motility
10.1038/s41594-020-00530-0 · 2021 · External reference
Scaffold subunits support associated subunit assembly in the Chlamydomonas ciliary nexin-dynein regulatory complex
10.1073/pnas.1910960116 · 2019 · External reference
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility
10.1186/s40246-024-00658-w · 2024 · External reference
Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: a case report
10.1097/md.0000000000020813 · 2020 · External reference
Functional characterization of a novel homozygous DNAH5 single-nucleotide intronic deletion in a consanguineous portuguese family with primary ciliary dyskinesia
10.3390/cells15111022 · 2026 · External reference
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
10.1164/rccm.200601-084oc · 2006 · External reference
Genetic defects in DNAH2 underlie male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
10.3389/fcell.2021.662903 · 2021 · External reference
Genetics of 67 patients of suspected primary ciliary dyskinesia from India
10.1111/cge.14590 · 2024 · External reference
Diagnostics and management of male infertility in primary ciliary dyskinesia
10.3390/diagnostics11091550 · 2021 · External reference
Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization
10.1002/humu.23005 · 2016 · External reference
Axonemal dynein arms
10.1101/cshperspect.a028100 · 2016 · External reference
Fine-tuning motile cilia and flagella: evolution of the dynein motor proteins from plants to humans at high resolution
10.1093/molbev/msw213 · 2016 · External reference
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella
10.1111/cge.13525 · 2019 · External reference
Patients with mutations in DNAH2, DNAH6 and DNAH10 causing multiple morphological abnormalities of human sperm flagella achieve good ICSI outcomes
10.1016/j.rbmo.2025.104949 · 2025 · External reference
DNAH14 variants are associated with neurodevelopmental disorders
10.1002/humu.24386 · 2022 · External reference
Functional anatomy of the mammalian sperm flagellum
10.1002/cm.21338 · 2016 · External reference
10.1101/2025.07.28.667185
10.1101/2025.07.28.667185 · External reference
Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility
10.1016/j.ajhg.2020.06.004 · 2020 · External reference
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
10.1016/j.ajhg.2018.10.020 · 2018 · External reference
Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han chinese males
10.1111/andr.13476 · 2024 · External reference
Decreased embryo developmental potential and lower cumulative pregnancy rate in men with multiple morphological abnormalities of the sperm flagella
10.3389/fendo.2024.1377780 · 2024 · External reference
CatSper calcium channels: 20 years on
2023 · External reference
Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice
10.1093/hropen/hoae003 · 2024 · External reference
Multi-scale structures of the mammalian radial spoke and divergence of axonemal complexes in ependymal cilia
10.1038/s41467-023-44577-1 · 2024 · External reference
Analysis of the sperm flagellar axoneme using gene-modified mice
10.1538/expanim.20-0064 · 2020 · External reference
Nexin-Dynein regulatory complex component DRC7 but not FBXL13 is required for sperm flagellum formation and male fertility in mice
10.1371/journal.pgen.1008585 · 2020 · External reference
Long-read sequencing and structural variant detection: unlocking the hidden genome in rare genetic disorders
10.3390/diagnostics15141803 · 2025 · External reference
Spermatogonial stem cell autotransplantation and germline genomic editing: a future cure for spermatogenic failure and prevention of transmission of genomic diseases
10.1093/humupd/dmw017 · 2016 · External reference
The impact of primary ciliary dyskinesia on female and male fertility: a narrative review
10.1093/humupd/dmad003 · 2023 · External reference
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum
10.1186/s12610-019-0083-9 · 2019 · External reference
Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener's syndrome
10.1186/s12958-018-0321-6 · 2018 · External reference
Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)
2023 · External reference
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
10.1183/09031936.00052014 · 2014 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Primary ciliary dyskinesia and male infertility: unraveling the genetic and clinical nexus
10.1111/andr.13802 · 2025 · External reference
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
10.1186/s12881-020-01171-2 · 2020 · External reference
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
10.1002/humu.20656 · 2008 · External reference
Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes
10.4103/aja202328 · 2023 · External reference
Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes
10.4103/aja202328 · 2024 · External reference
10.1164/rccm.201805-0819st
10.1164/rccm.201805-0819st · External reference
Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility
10.4103/aja2024116 · 2025 · External reference
European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia
10.1183/13993003.00745-2025 · 2025 · External reference
Sperm defects in primary ciliary dyskinesia and related causes of male infertility
10.1007/s00018-019-03389-7 · 2020 · External reference
Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome
10.1007/s10815-023-02897-7 · 2023 · External reference
How exome sequencing improves the diagnostics and management of men with non-syndromic infertility
10.1111/andr.13728 · 2025 · External reference
The Catsper channel and its roles in male fertility: a systematic review
10.1186/s12958-017-0281-2 · 2017 · External reference
Novel variants in DNAH17 cause sperm flagellar outer dynein arm defects but not total fertilization failure after ICSI
10.1016/j.rbmo.2024.104492 · 2025 · External reference
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
10.1186/s12958-021-00709-0 · 2021 · External reference
Understanding testicular single cell transcriptional atlas: from developmental complications to male infertility
10.3389/fendo.2024.1394812 · 2024 · External reference
Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella
10.1038/s41598-019-52436-7 · 2019 · External reference
Genetic underpinnings of asthenozoospermia. best practice & research
2020 · External reference
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
10.1016/j.ajhg.2021.06.010 · 2021 · External reference
Ciliary motility: regulation of axonemal dynein motors
10.1101/cshperspect.a018325 · 2017 · External reference
Motile ciliopathies
10.1038/s41572-020-0209-6 · 2020 · External reference
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection
10.1093/humrep/dew083 · 2016 · External reference
Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese
10.1111/cge.12857 · 2017 · External reference
DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice
10.7554/elife.96755.4 · 2024 · External reference
DNAH14 deficiency disrupts sperm annulus positioning and compromises offspring postnatal development
10.1093/humrep/deag014 · 2026 · External reference
Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?
10.4103/aja.aja_53_19 · 2020 · External reference
Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: a review of literature
2022 · External reference
Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella
10.4103/aja202292 · 2022 · External reference
Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella
10.4103/aja202292 · 2023 · External reference
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure
10.1093/abbs/gmab113 · 2021 · External reference
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility
10.1093/abbs/gmab013 · 2021 · External reference
Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia
10.1016/j.ajhg.2019.04.015 · 2019 · External reference
Primary ciliary dyskinesia associated disease-causing variants in CCDC39 and CCDC40 cause axonemal absence of inner dynein arm heavy chains DNAH1, DNAH6, and DNAH7
10.3390/cells13141200 · 2024 · External reference
DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath
10.1038/s41419-023-05653-y · 2023 · External reference
Identification of compound heterozygous DNAH11 variants in a Han-chinese family with primary ciliary dyskinesia
10.1111/jcmm.16866 · 2021 · External reference
Composition and function of ciliary inner-dynein-arm subunits studied in Chlamydomonas reinhardtii
10.1002/cm.21662 · 2021 · External reference
Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice
10.7554/elife.100350.3 · 2025 · External reference
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella
10.1111/cge.13815 · 2020 · External reference
Biallelic DNAH11 variations cause male infertility with multiple morphological abnormalities of the sperm flagellum in humans
10.1002/mco2.70210 · 2025 · External reference
Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review
10.1007/s10815-021-02201-5 · 2021 · External reference
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi =
2025 · External reference
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
10.1084/jem.20182365 · 2020 · External reference
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice
10.1111/cge.13866 · 2021 · External reference
A novel splicing variant in DNAH8 causes asthenozoospermia
10.1007/s10815-021-02116-1 · 2021 · External reference
Radial spokes-a snapshot of the motility regulation, assembly, and evolution of cilia and flagella
10.1101/cshperspect.a028126 · 2017 · External reference
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients
10.1042/bsr20181450 · 2019 · External reference
Novel DNAH1 mutation loci lead to multiple morphological abnormalities of the sperm flagella and literature review
10.5534/wjmh.210119 · 2022 · External reference
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis
10.1186/s13023-024-03318-3 · 2024 · External reference
