571 related articles for article (PubMed ID: 31978331)
41. Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.
Neesen J; Kirschner R; Ochs M; Schmiedl A; Habermann B; Mueller C; Holstein AF; Nuesslein T; Adham I; Engel W
Hum Mol Genet; 2001 May; 10(11):1117-28. PubMed ID: 11371505
[TBL] [Abstract][Full Text] [Related]
42. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Wang Y; Tu C; Nie H; Meng L; Li D; Wang W; Zhang H; Lu G; Lin G; Tan YQ; Du J
J Assist Reprod Genet; 2020 Apr; 37(4):811-820. PubMed ID: 32170493
[TBL] [Abstract][Full Text] [Related]
43. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi JR; Becker-Heck A; Castleman VH; Al-Mutairi DA; Liu Y; Loges NT; Pathak N; Austin-Tse C; Sheridan E; Schmidts M; Olbrich H; Werner C; Häffner K; Hellman N; Chodhari R; Gupta A; Kramer-Zucker A; Olale F; Burdine RD; Schier AF; O'Callaghan C; Chung EM; Reinhardt R; Mitchison HM; King SM; Omran H; Drummond IA
Nat Genet; 2012 May; 44(6):714-9. PubMed ID: 22581229
[TBL] [Abstract][Full Text] [Related]
44. A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Kherraf ZE; Barbotin AL; Martinez G; Mazet A; Cazin C; Coutton C; Arnoult C; Thierry-Mieg N; Rives N; Rives-Feraille A; Ray PF
Clin Genet; 2024 Feb; 105(2):220-225. PubMed ID: 37950557
[TBL] [Abstract][Full Text] [Related]
45. Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
Zhou L; Li Z; Du C; Chen C; Sun Y; Gu L; Zhou F; Song Y
Mol Med Rep; 2020 Dec; 22(6):4707-4715. PubMed ID: 33174003
[TBL] [Abstract][Full Text] [Related]
46. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Blanchon S; Legendre M; Bottier M; Tamalet A; Montantin G; Collot N; Faucon C; Dastot F; Copin B; Clement A; Filoche M; Coste A; Amselem S; Escudier E; Papon JF; Louis B
J Med Genet; 2020 Apr; 57(4):237-244. PubMed ID: 31772028
[TBL] [Abstract][Full Text] [Related]
47. Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E; Duquesnoy P; Papon JF; Amselem S
Paediatr Respir Rev; 2009 Jun; 10(2):51-4. PubMed ID: 19410201
[TBL] [Abstract][Full Text] [Related]
48. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
Pennarun G; Escudier E; Chapelin C; Bridoux AM; Cacheux V; Roger G; Clément A; Goossens M; Amselem S; Duriez B
Am J Hum Genet; 1999 Dec; 65(6):1508-19. PubMed ID: 10577904
[TBL] [Abstract][Full Text] [Related]
49. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
Rocca MS; Piatti G; Michelucci A; Guazzo R; Bertini V; Vinanzi C; Caligo MA; Valetto A; Foresta C
BMC Med Genet; 2020 Nov; 21(1):220. PubMed ID: 33167880
[TBL] [Abstract][Full Text] [Related]
50. hemingway is required for sperm flagella assembly and ciliary motility in Drosophila.
Soulavie F; Piepenbrock D; Thomas J; Vieillard J; Duteyrat JL; Cortier E; Laurençon A; Göpfert MC; Durand B
Mol Biol Cell; 2014 Apr; 25(8):1276-86. PubMed ID: 24554765
[TBL] [Abstract][Full Text] [Related]
51. FAP57/WDR65 targets assembly of a subset of inner arm dyneins and connects to regulatory hubs in cilia.
Lin J; Le TV; Augspurger K; Tritschler D; Bower R; Fu G; Perrone C; O'Toole ET; Mills KV; Dymek E; Smith E; Nicastro D; Porter ME
Mol Biol Cell; 2019 Oct; 30(21):2659-2680. PubMed ID: 31483737
[TBL] [Abstract][Full Text] [Related]
52. Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
Pereira R; Oliveira ME; Santos R; Oliveira E; Barbosa T; Santos T; Gonçalves P; Ferraz L; Pinto S; Barros A; Oliveira J; Sousa M
J Assist Reprod Genet; 2019 Aug; 36(8):1683-1700. PubMed ID: 31273583
[TBL] [Abstract][Full Text] [Related]
53. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.
Auguste Y; Delague V; Desvignes JP; Longepied G; Gnisci A; Besnier P; Levy N; Beroud C; Megarbane A; Metzler-Guillemain C; Mitchell MJ
Am J Hum Genet; 2018 Sep; 103(3):413-420. PubMed ID: 30122541
[TBL] [Abstract][Full Text] [Related]
54. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Wirschell M; Olbrich H; Werner C; Tritschler D; Bower R; Sale WS; Loges NT; Pennekamp P; Lindberg S; Stenram U; Carlén B; Horak E; Köhler G; Nürnberg P; Nürnberg G; Porter ME; Omran H
Nat Genet; 2013 Mar; 45(3):262-8. PubMed ID: 23354437
[TBL] [Abstract][Full Text] [Related]
55. Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
Zhang J; He X; Wu H; Zhang X; Yang S; Liu C; Liu S; Hua R; Zhou S; Zhao S; Hu F; Zhang J; Liu W; Cheng H; Gao Y; Zhang F; Cao Y; Liu M
Hum Mol Genet; 2021 Oct; 30(21):1996-2011. PubMed ID: 34169321
[TBL] [Abstract][Full Text] [Related]
56. PCD Detect: enhancing ciliary features through image averaging and classification.
Shoemark A; Pinto AL; Patel MP; Daudvohra F; Hogg C; Mitchison HM; Burgoyne T
Am J Physiol Lung Cell Mol Physiol; 2020 Dec; 319(6):L1048-L1060. PubMed ID: 32996775
[TBL] [Abstract][Full Text] [Related]
57. Rsph4a is essential for the triplet radial spoke head assembly of the mouse motile cilia.
Yoke H; Ueno H; Narita A; Sakai T; Horiuchi K; Shingyoji C; Hamada H; Shinohara K
PLoS Genet; 2020 Mar; 16(3):e1008664. PubMed ID: 32203505
[TBL] [Abstract][Full Text] [Related]
58. 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.
Wu H; Liu Y; Li Y; Li K; Xu C; Gao Y; Lv M; Guo R; Xu Y; Zhou P; Wei Z; Hua R; He X; Cao Y
Cell Death Dis; 2023 Feb; 14(2):127. PubMed ID: 36792588
[TBL] [Abstract][Full Text] [Related]
59. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C; Patel MP; Shoemark A; Kiviluoto S; Legendre M; Williams HJ; Vaughan CK; Hayward J; Goldenberg A; Emes RD; Munye MM; Dyer L; Cahill T; Bevillard J; Gehrig C; Guipponi M; Chantot S; Duquesnoy P; Thomas L; Jeanson L; Copin B; Tamalet A; Thauvin-Robinet C; Papon JF; Garin A; Pin I; Vera G; Aurora P; Fassad MR; Jenkins L; Boustred C; Cullup T; Dixon M; Onoufriadis A; Bush A; Chung EM; Antonarakis SE; Loebinger MR; Wilson R; Armengot M; Escudier E; Hogg C; ; Amselem S; Sun Z; Bartoloni L; Blouin JL; Mitchison HM
Nat Commun; 2017 Feb; 8():14279. PubMed ID: 28176794
[TBL] [Abstract][Full Text] [Related]
60. [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].
Wang S; Li B; Chen Y; Zhou Z; Bao R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Sep; 37(9):1021-1024. PubMed ID: 32820521
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]