Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

139 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: pazour gj. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects.
Francis R, San Agustin JT, Szabo Rogers HL, Cui C, Jonassen JA, Eguether T, Follit JA, Lo CW, Pazour GJ. Francis R, et al. Among authors: pazour gj. bioRxiv [Preprint]. 2023 Jun 7:2023.06.07.544132. doi: 10.1101/2023.06.07.544132. bioRxiv. 2023. Update in: PLoS Biol. 2023 Dec 11;21(12):e3002425. doi: 10.1371/journal.pbio.3002425 PMID: 37333142 Free PMC article. Updated. Preprint.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: pazour gj. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
Cilia in cystic kidney and other diseases.
Pazour GJ, Quarmby L, Smith AO, Desai PB, Schmidts M. Pazour GJ, et al. Cell Signal. 2020 May;69:109519. doi: 10.1016/j.cellsig.2019.109519. Epub 2019 Dec 24. Cell Signal. 2020. PMID: 31881326 Free PMC article. Review.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: pazour gj. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. Update in: PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796 PMID: 36865301 Free PMC article. Updated. Preprint.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: pazour gj. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Distinct functions for IFT140 and IFT20 in opsin transport.
Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ. Crouse JA, et al. Among authors: pazour gj. Cytoskeleton (Hoboken). 2014 May;71(5):302-10. doi: 10.1002/cm.21173. Epub 2014 Mar 25. Cytoskeleton (Hoboken). 2014. PMID: 24619649 Free PMC article.
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. Damerla RR, et al. Among authors: pazour gj. Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. Hum Mol Genet. 2015. PMID: 25877302 Free PMC article.
139 results