These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

390 related articles for article (PubMed ID: 28543983)

  • 21. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
    Schwabe GC; Hoffmann K; Loges NT; Birker D; Rossier C; de Santi MM; Olbrich H; Fliegauf M; Failly M; Liebers U; Collura M; Gaedicke G; Mundlos S; Wahn U; Blouin JL; Niggemann B; Omran H; Antonarakis SE; Bartoloni L
    Hum Mutat; 2008 Feb; 29(2):289-98. PubMed ID: 18022865
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genetic defects in ciliary structure and function.
    Zariwala MA; Knowles MR; Omran H
    Annu Rev Physiol; 2007; 69():423-50. PubMed ID: 17059358
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
    Wang R; Yang D; Tu C; Lei C; Ding S; Guo T; Wang L; Liu Y; Lu C; Yang B; Ouyang S; Gong K; Tan Z; Deng Y; Tan Y; Qing J; Luo H
    Front Med; 2023 Oct; 17(5):957-971. PubMed ID: 37314648
    [TBL] [Abstract][Full Text] [Related]  

  • 24. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
    Dougherty GW; Loges NT; Klinkenbusch JA; Olbrich H; Pennekamp P; Menchen T; Raidt J; Wallmeier J; Werner C; Westermann C; Ruckert C; Mirra V; Hjeij R; Memari Y; Durbin R; Kolb-Kokocinski A; Praveen K; Kashef MA; Kashef S; Eghtedari F; Häffner K; Valmari P; Baktai G; Aviram M; Bentur L; Amirav I; Davis EE; Katsanis N; Brueckner M; Shaposhnykov A; Pigino G; Dworniczak B; Omran H
    Am J Respir Cell Mol Biol; 2016 Aug; 55(2):213-24. PubMed ID: 26909801
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
    Tan SY; Rosenthal J; Zhao XQ; Francis RJ; Chatterjee B; Sabol SL; Linask KL; Bracero L; Connelly PS; Daniels MP; Yu Q; Omran H; Leatherbury L; Lo CW
    J Clin Invest; 2007 Dec; 117(12):3742-52. PubMed ID: 18037990
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
    Bartoloni L; Blouin JL; Maiti AK; Sainsbury A; Rossier C; Gehrig C; She JX; Marron MP; Lander ES; Meeks M; Chung E; Armengot M; Jorissen M; Scott HS; Delozier-Blanchet CD; Gardiner RM; Antonarakis SE
    Genomics; 2001 Feb; 72(1):21-33. PubMed ID: 11247663
    [TBL] [Abstract][Full Text] [Related]  

  • 27. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
    Diggle CP; Moore DJ; Mali G; zur Lage P; Ait-Lounis A; Schmidts M; Shoemark A; Garcia Munoz A; Halachev MR; Gautier P; Yeyati PL; Bonthron DT; Carr IM; Hayward B; Markham AF; Hope JE; von Kriegsheim A; Mitchison HM; Jackson IJ; Durand B; Reith W; Sheridan E; Jarman AP; Mill P
    PLoS Genet; 2014 Sep; 10(9):e1004577. PubMed ID: 25232951
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Expression of a Truncated Form of
    Ostrowski LE; Yin W; Smith AJ; Sears PR; Bustamante-Marin XM; Dang H; Hildebrandt F; Daniels LA; Capps NA; Sullivan KM; Leigh MW; Zariwala MA; Knowles MR
    Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163670
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
    Fliegauf M; Olbrich H; Horvath J; Wildhaber JH; Zariwala MA; Kennedy M; Knowles MR; Omran H
    Am J Respir Crit Care Med; 2005 Jun; 171(12):1343-9. PubMed ID: 15750039
    [TBL] [Abstract][Full Text] [Related]  

  • 31. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
    Thomas L; Bouhouche K; Whitfield M; Thouvenin G; Coste A; Louis B; Szymanski C; Bequignon E; Papon JF; Castelli M; Lemullois M; Dhalluin X; Drouin-Garraud V; Montantin G; Tissier S; Duquesnoy P; Copin B; Dastot F; Couvet S; Barbotin AL; Faucon C; Honore I; Maitre B; Beydon N; Tamalet A; Rives N; Koll F; Escudier E; Tassin AM; Touré A; Mitchell V; Amselem S; Legendre M
    Am J Hum Genet; 2020 Feb; 106(2):153-169. PubMed ID: 31978331
    [TBL] [Abstract][Full Text] [Related]  

  • 32.
    Zietkiewicz E; Bukowy-Bieryllo Z; Rabiasz A; Daca-Roszak P; Wojda A; Voelkel K; Rutkiewicz E; Pogorzelski A; Rasteiro M; Witt M
    Am J Respir Cell Mol Biol; 2019 Oct; 61(4):440-449. PubMed ID: 30916986
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Truncating mutations in exons 20 and 21 of
    Bukowy-Bieryllo Z; Rabiasz A; Dabrowski M; Pogorzelski A; Wojda A; Dmenska H; Grzela K; Sroczynski J; Witt M; Zietkiewicz E
    J Med Genet; 2019 Nov; 56(11):769-777. PubMed ID: 31366608
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
    Olbrich H; Cremers C; Loges NT; Werner C; Nielsen KG; Marthin JK; Philipsen M; Wallmeier J; Pennekamp P; Menchen T; Edelbusch C; Dougherty GW; Schwartz O; Thiele H; Altmüller J; Rommelmann F; Omran H
    Am J Hum Genet; 2015 Oct; 97(4):546-54. PubMed ID: 26387594
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
    Jeanson L; Thomas L; Copin B; Coste A; Sermet-Gaudelus I; Dastot-Le Moal F; Duquesnoy P; Montantin G; Collot N; Tissier S; Papon JF; Clement A; Louis B; Escudier E; Amselem S; Legendre M
    Hum Mutat; 2016 Aug; 37(8):776-85. PubMed ID: 27120127
    [TBL] [Abstract][Full Text] [Related]  

  • 37. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
    Jeanson L; Copin B; Papon JF; Dastot-Le Moal F; Duquesnoy P; Montantin G; Cadranel J; Corvol H; Coste A; Désir J; Souayah A; Kott E; Collot N; Tissier S; Louis B; Tamalet A; de Blic J; Clement A; Escudier E; Amselem S; Legendre M
    Am J Hum Genet; 2015 Jul; 97(1):153-62. PubMed ID: 26073779
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
    Schultz R; Elenius V; Lukkarinen H; Saarela T
    BMC Med Genet; 2020 Nov; 21(1):237. PubMed ID: 33243178
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.
    Noone PG; Bali D; Carson JL; Sannuti A; Gipson CL; Ostrowski LE; Bromberg PA; Boucher RC; Knowles MR
    Am J Med Genet; 1999 Jan; 82(2):155-60. PubMed ID: 9934981
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 20.