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Items: 1 to 20 of 103

1.

Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.

Shaheen R, Alsahli S, Ewida N, Alzahrani F, Shamseldin HE, Patel N, Al Qahtani A, Alhebby H, Alhashem A, Al-Sheddi T, Alomar R, Alobeid E, Abouelhoda M, Monies D, Al-Hussaini A, Alzouman MA, Alshagrani M, Faqeih E, Alkuraya FS.

Hepatology. 2019 Oct 8. doi: 10.1002/hep.30982. [Epub ahead of print]

PMID:
31595528
2.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS.

Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21.

3.

IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture.

Xin D, Christopher KJ, Zeng L, Kong Y, Weatherbee SD.

Development. 2017 Apr 15;144(8):1544-1553. doi: 10.1242/dev.143255. Epub 2017 Mar 6.

4.

A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling.

Swiderski RE, Nakano Y, Mullins RF, Seo S, Bánfi B.

PLoS Genet. 2014 Oct 23;10(10):e1004689. doi: 10.1371/journal.pgen.1004689. eCollection 2014 Oct.

5.

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish.

Zhang Q, Liu Q, Austin C, Drummond I, Pierce EA.

Mol Biol Cell. 2012 Aug;23(16):3069-78. doi: 10.1091/mbc.E12-01-0019. Epub 2012 Jun 20.

6.

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

Davey MG, McTeir L, Barrie AM, Freem LJ, Stephen LA.

Organogenesis. 2014 Apr-Jun;10(2):177-85. doi: 10.4161/org.28819. Epub 2014 Apr 17.

7.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

8.

Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.

Nozaki S, Katoh Y, Terada M, Michisaka S, Funabashi T, Takahashi S, Kontani K, Nakayama K.

J Cell Sci. 2017 Feb 1;130(3):563-576. doi: 10.1242/jcs.197004. Epub 2016 Dec 7.

9.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

10.

Characterizing the morbid genome of ciliopathies.

Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.

Genome Biol. 2016 Nov 28;17(1):242.

11.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F.

J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.

12.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM.

Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18.

PMID:
24128419
13.

TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.

Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF.

Elife. 2014 Jan 1;3:e01566. doi: 10.7554/eLife.01566. Erratum in: Elife. 2014 Apr 01;3:e02897.

14.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.

Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19.

15.

Identification of a novel MKS locus defined by TMEM107 mutation.

Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS.

Hum Mol Genet. 2015 Sep 15;24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29.

PMID:
26123494
16.

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE.

Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23.

PMID:
29174089
17.

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

Takahara M, Katoh Y, Nakamura K, Hirano T, Sugawa M, Tsurumi Y, Nakayama K.

Hum Mol Genet. 2018 Feb 1;27(3):516-528. doi: 10.1093/hmg/ddx421.

PMID:
29220510
18.

Overall Architecture of the Intraflagellar Transport (IFT)-B Complex Containing Cluap1/IFT38 as an Essential Component of the IFT-B Peripheral Subcomplex.

Katoh Y, Terada M, Nishijima Y, Takei R, Nozaki S, Hamada H, Nakayama K.

J Biol Chem. 2016 May 20;291(21):10962-75. doi: 10.1074/jbc.M116.713883. Epub 2016 Mar 15.

19.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

20.

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

Goetz SC, Bangs F, Barrington CL, Katsanis N, Anderson KV.

PLoS One. 2017 Mar 14;12(3):e0173399. doi: 10.1371/journal.pone.0173399. eCollection 2017.

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