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References from A novel frameshift variant in TTC29 associated with total asthenozoospermia and male infertility. Local targets link to admitted publications; unresolved targets remain external evidence.
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations
10.1093/humrep/dew262 · 2016 · External reference
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to Male infertility from multiple morphological abnormalities of the sperm flagella
10.1016/j.ajhg.2013.11.017 · 2014 · External reference
The tetratricopeptide repeat: a structural motif mediating protein-protein interactions
10.1002/(sici)1521-1878(199911)21:11<932::aid-bies5>3.0.co;2-n · 1999 · External reference
Diagnosis and management of infertility: a review
10.1001/jama.2021.4788 · 2021 · External reference
The nonsense-mediated decay RNA surveillance pathway
10.1146/annurev.biochem.76.050106.093909 · 2007 · External reference
A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella
10.1016/j.rbmo.2023.103765 · 2024 · External reference
Teratozoospermia: spotlight on the main genetic actors in the human
10.1093/humupd/dmv020 · 2015 · External reference
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function
10.7554/elife.87698 · 2023 · External reference
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility
10.1002/mgg3.2078 · 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
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
Sperm flagella: comparative and phylogenetic perspectives of protein components
10.1093/molehr/gar034 · 2011 · External reference
A homozygous ancestral SVA-Insertion-Mediated deletion in WDR66 induces multiple morphological abnormalities of the sperm flagellum and Male infertility
10.1016/j.ajhg.2018.07.014 · 2018 · External reference
Genetics of male infertility
10.1038/s41585-018-0003-3 · 2018 · External reference
Formation and function of sperm tail structures in association with sperm motility defects
10.1093/biolre/iox096 · 2017 · External reference
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
10.1136/jmedgenet-2019-106344 · 2020 · External reference
Bi-allelic mutations in TTC29 cause Male subfertility with asthenoteratospermia in humans and mice
10.1016/j.ajhg.2019.10.010 · 2019 · External reference
Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice
10.1016/j.ajhg.2019.02.020 · 2019 · 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
Mutations in TTC29, encoding an evolutionarily conserved axonemal protein, result in asthenozoospermia and Male infertility
10.1016/j.ajhg.2019.10.007 · 2019 · External reference
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum
10.1186/s12610-019-0083-9 · 2019 · External reference
Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte
10.1016/0140-6736(92)92425-f · 1992 · 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
Overview of structure and function of mammalian cilia
10.1146/annurev.physiol.69.040705.141236 · 2007 · External reference
Sperm defects in primary ciliary dyskinesia and related causes of Male infertility
10.1007/s00018-019-03389-7 · 2020 · External reference
Biallelic mutations in CFAP43 and CFAP44 cause Male infertility with multiple morphological abnormalities of the sperm flagella
10.1016/j.ajhg.2017.04.012 · 2017 · External reference
The intraflagellar transport machinery
10.1101/cshperspect.a028092 · 2016 · 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
Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?
10.4103/aja.aja_53_19 · 2020 · External reference
Unresolved reference
2010 · External reference
The molecular basis of multiple morphological abnormalities of sperm flagella and its impact on clinical practice
10.3390/genes15101315 · 2024 · External reference
