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Items: 9

1.
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis
Hum Genomics. 2017; 11: 16. Published online 2017 Jul 19. doi: 10.1186/s40246-017-0111-9
PMCID:
PMC5517791
AbstractArticlePDF–1.4M
2.
Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation
Julie A. Jonassen, Jovenal SanAgustin, Stephen P. Baker, Gregory J. Pazour
J Am Soc Nephrol. 2012 Apr; 23(4): 641–651. doi: 10.1681/ASN.2011080829
PMCID:
PMC3312512
AbstractArticle
3.
TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia
Saikat Mukhopadhyay, Xiaohui Wen, Ben Chih, Christopher D. Nelson, William S. Lane, Suzie J. Scales, Peter K. Jackson
Genes Dev. 2010 Oct 1; 24(19): 2180–2193. doi: 10.1101/gad.1966210
PMCID:
PMC2947770
AbstractArticlePDF–1.9M
4.
Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs
Manabu Nakayama, Reiko Kikuno, Osamu Ohara
Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902
PMCID:
PMC187542
AbstractArticlePDF–374K
5.
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5
PMCID:
PMC7058001
AbstractArticlePDF–1.5M
6.
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Orphanet J Rare Dis. 2020; 15: 36. Published online 2020 Feb 1. doi: 10.1186/s13023-020-1303-2
PMCID:
PMC6995138
AbstractArticlePDF–1.2M
7.
Novel IFT140 variants cause spermatogenic dysfunction in humans
Xiong Wang, Yan‐wei Sha, Wen‐ting Wang, Yuan‐qing Cui, Jie Chen, Wei Yan, Xiao‐tao Hou, Li‐bin Mei, Cui‐cui Yu, Jiahui Wang
Mol Genet Genomic Med. 2019 Sep; 7(9): e920. Published online 2019 Aug 8. doi: 10.1002/mgg3.920
PMCID:
PMC6732298
AbstractArticlePDF–1.1M
8.
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers
Cilia. 2018; 7: 1. Published online 2018 Feb 23. doi: 10.1186/s13630-018-0055-2
PMCID:
PMC6247778
AbstractArticlePDF–3.8M
9.
Identifying differentially expressed long non-coding RNAs in PBMCs in response to the infection of multidrug-resistant tuberculosis
Hong Yan, Rufeng Xu, Xiangrong Zhang, Qian Wang, Jing Pang, Xia Zhang, Xiaoai Chang, Yaqin Zhang
Infect Drug Resist. 2018; 11: 945–959. Published online 2018 Jul 13. doi: 10.2147/IDR.S154255
PMCID:
PMC6047615
AbstractArticlePDF–2.7M

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