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 *

270 related articles for article (PubMed ID: 21211617)

  • 21. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
    Kakar N; Horn D; Decker E; Sowada N; Kubisch C; Ahmad J; Borck G; Bergmann C
    Am J Med Genet A; 2018 Feb; 176(2):438-442. PubMed ID: 29271569
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The mammalian Nek1 kinase is involved in primary cilium formation.
    Shalom O; Shalva N; Altschuler Y; Motro B
    FEBS Lett; 2008 Apr; 582(10):1465-70. PubMed ID: 18387364
    [TBL] [Abstract][Full Text] [Related]  

  • 23. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
    Zhang W; Taylor SP; Nevarez L; Lachman RS; Nickerson DA; Bamshad M; ; Krakow D; Cohn DH
    Hum Mol Genet; 2016 Sep; 25(18):4012-4020. PubMed ID: 27466190
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].
    Zhao H; Li L; Liu R; Yang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):881-883. PubMed ID: 35929941
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.
    Upadhya P; Birkenmeier EH; Birkenmeier CS; Barker JE
    Proc Natl Acad Sci U S A; 2000 Jan; 97(1):217-21. PubMed ID: 10618398
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis.
    White MC; Quarmby LM
    BMC Cell Biol; 2008 Jun; 9():29. PubMed ID: 18533026
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
    Deng L; Cheung SW; Schmitt ES; Xiong S; Yuan M; Chen Z; Chen L; Sun L
    Birth Defects Res; 2018 Mar; 110(4):364-371. PubMed ID: 29359448
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
    Cabaud O; Roubin R; Comte A; Bascunana V; Sergé A; Sedjaï F; Birnbaum D; Rosnet O; Acquaviva C
    Hum Mol Genet; 2018 Oct; 27(19):3377-3391. PubMed ID: 29982567
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
    Sharma AK; Phadke S; Chandra K; Upreti M; Khan EM; Naveed M; Agarwal SS
    Am J Med Genet; 1992 Aug; 43(6):949-53. PubMed ID: 1415345
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.
    McCormac RM; Flannery DB; Nakoneczna I; Kodroff MB
    Pediatr Pathol; 1984; 2(4):457-67. PubMed ID: 6535999
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The NIMA-related kinase NEK1 cycles through the nucleus.
    Hilton LK; White MC; Quarmby LM
    Biochem Biophys Res Commun; 2009 Nov; 389(1):52-6. PubMed ID: 19699716
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.
    Gholkar AA; Senese S; Lo YC; Capri J; Deardorff WJ; Dharmarajan H; Contreras E; Hodara E; Whitelegge JP; Jackson PK; Torres JZ
    Cell Cycle; 2015; 14(7):1116-25. PubMed ID: 25830415
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutation of NIMA-related kinase 1 (NEK1) leads to chromosome instability.
    Chen Y; Chen CF; Chiang HC; Pena M; Polci R; Wei RL; Edwards RA; Hansel DE; Chen PL; Riley DJ
    Mol Cancer; 2011 Jan; 10(1):5. PubMed ID: 21214959
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Lethal short rib syndrome of the Beemer type without polydactyly.
    Lungarotti MS; Martello C; Marinelli I; Falasca L
    Pediatr Radiol; 1993; 23(4):325-6. PubMed ID: 8414768
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel
    Xia CL; Xiao SQ; Yang X; Liu CX; Qiu H; Jiang HK; Li-Ling J; Lyu Y
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846808
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest.
    Pelegrini AL; Moura DJ; Brenner BL; Ledur PF; Maques GP; Henriques JA; Saffi J; Lenz G
    Mutagenesis; 2010 Sep; 25(5):447-54. PubMed ID: 20501547
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
    Thakur S; Gupta R; Bansal D; Singh C; Agarwal D; Saxena KK
    Clin Genet; 2021 Jun; 99(6):853-854. PubMed ID: 33694158
    [No Abstract]   [Full Text] [Related]  

  • 38. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.
    Rix S; Calmont A; Scambler PJ; Beales PL
    Hum Mol Genet; 2011 Apr; 20(7):1306-14. PubMed ID: 21227999
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR.
    Chen Y; Chen CF; Riley DJ; Chen PL
    Cell Cycle; 2011 Feb; 10(4):655-63. PubMed ID: 21301226
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diagnostic dilemmas in the short rib-polydactyly syndrome group.
    Elçioglu NH; Hall CM
    Am J Med Genet; 2002 Sep; 111(4):392-400. PubMed ID: 12210298
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.