2021
DOI: 10.1007/s10815-021-02306-x
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Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility

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Cited by 19 publications
(19 citation statements)
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“…This type of male infertility was consistent with that described in previous studies. 17 Moreover, the ultrastructural and immunofluorescence analyses of the sperm samples revealed severe defects in the mitochondria. Previous studies in animal models have suggested that TBC1D21 is crucial for mitochondrial and axoneme development in mammalian sperm through interaction with TOMM20 and DNAH7.…”
Section: Discussionmentioning
confidence: 99%
“…This type of male infertility was consistent with that described in previous studies. 17 Moreover, the ultrastructural and immunofluorescence analyses of the sperm samples revealed severe defects in the mitochondria. Previous studies in animal models have suggested that TBC1D21 is crucial for mitochondrial and axoneme development in mammalian sperm through interaction with TOMM20 and DNAH7.…”
Section: Discussionmentioning
confidence: 99%
“…Both study groups recruited males with MMAF and performed whole-exome sequencing. 45,46 Tu et al found five case subjects who had rare, deleterious variants in the DNAH10 gene. Two of the men were homozygous carriers, and the rest three were compound heterozygous carriers for variants in the gene of interest.…”
Section: Dnah10mentioning
confidence: 99%
“…45 Li et al reported one invididual who carried a homozygous frameshift variant and another one who was compound heterozygous for variants in the DNAH10 gene. 46 Both research groups found that the axoneme of the carriers of variants in the DNAH10 gene showed an abnormal structure-the inner dynein arms were missing. Moreover, the DNAH10 protein was substantially reduced in the sperm samples of the individuals harboring these variants compared to the controls.…”
Section: Dnah10mentioning
confidence: 99%
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“…Genetic origin accounts for 35–60% of these MMAF cases. Several gene-families are identified as associated with flagella, including the AKAP family, DANI family, DNAH family, RSPH family, CCDC family, CFAP family, TTC family, and some single genes [ 1 , 9 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 ].…”
Section: Introductionmentioning
confidence: 99%