Detalhe da pesquisa
1.
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Am J Respir Crit Care Med
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626355
2.
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
3.
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
4.
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
5.
miR449 Protects Airway Regeneration by Controlling AURKA/HDAC6-Mediated Ciliary Disassembly.
Int J Mol Sci
; 23(14)2022 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887096
6.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Am J Hum Genet
; 103(6): 995-1008, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471718
7.
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
8.
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
9.
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
10.
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
11.
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Circ Genom Precis Med
; 2019 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31638833