Detalhe da pesquisa
1.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PLoS Genet
; 17(2): e1009306, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33635866
2.
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Genet Med
; 25(5): 100798, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727596
3.
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Am J Hum Genet
; 105(5): 1030-1039, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630787
4.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Am J Hum Genet
; 102(5): 973-984, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727693
5.
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Mol Hum Reprod
; 27(3)2021 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561200
6.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148830
7.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Am J Hum Genet
; 100(1): 160-168, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041644
8.
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Am J Respir Cell Mol Biol
; 67(3): 409-413, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047773
9.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Nat Commun
; 11(1): 5520, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33139725