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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 1
2005 1
2006 1
2009 1
2010 4
2011 1
2013 1
2014 1
2015 2
2016 1
2017 1
2018 1
2019 2
2020 2
2021 1
2022 2
2023 1
2024 0

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PubMed (RefSeq) for id: 2217360046

23 results

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Page 1
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, Szpyt J, Gassaway BM, Panov A, Parzen H, Fu S, Golbazi A, Maenpaa E, Stricker K, Guha Thakurta S, Zhang T, Rad R, Pan J, Nusinow DP, Paulo JA, Schweppe DK, Vaites LP, Harper JW, Gygi SP. Huttlin EL, et al. Cell. 2021 May 27;184(11):3022-3040.e28. doi: 10.1016/j.cell.2021.04.011. Epub 2021 May 6. Cell. 2021. PMID: 33961781 Free PMC article.
Confirming TBC1D32-related ciliopathy in humans.
Alsahan N, Alkuraya FS. Alsahan N, et al. Am J Med Genet A. 2020 Aug;182(8):1985-1987. doi: 10.1002/ajmg.a.61717. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573025 No abstract available.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T. Hietamäki J, et al. J Clin Endocrinol Metab. 2020 Jun 1;105(6):1748-58. doi: 10.1210/clinem/dgaa078. J Clin Endocrinol Metab. 2020. PMID: 32060556 Free PMC article.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile.
Dendoncker K, Timmermans S, Vandewalle J, Eggermont M, Lempiäinen J, Paakinaho V, Van Hamme E, Dewaele S, Vandevyver S, Ballegeer M, Souffriau J, Van Wyngene L, Van Looveren K, Vanderhaeghen T, Beyaert R, De Bosscher K, Palvimo JJ, Van Montagu M, Libert C. Dendoncker K, et al. Proc Natl Acad Sci U S A. 2019 Jun 25;116(26):12942-12951. doi: 10.1073/pnas.1821565116. Epub 2019 Jun 10. Proc Natl Acad Sci U S A. 2019. PMID: 31182584 Free PMC article.
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. Shaheen R, et al. Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905400 Free PMC article.
Architecture of the human interactome defines protein communities and disease networks.
Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW. Huttlin EL, et al. Nature. 2017 May 25;545(7655):505-509. doi: 10.1038/nature22366. Epub 2017 May 17. Nature. 2017. PMID: 28514442 Free PMC article.
23 results