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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: parant jm. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
Reduced sister chromatid cohesion acts as a tumor penetrance modifier.
Wang J, Thomas HR, Chen Y, Percival SM, Waldrep SC, Ramaker RC, Thompson RG, Cooper SJ, Chong Z, Parant JM. Wang J, et al. Among authors: parant jm. PLoS Genet. 2022 Aug 22;18(8):e1010341. doi: 10.1371/journal.pgen.1010341. eCollection 2022 Aug. PLoS Genet. 2022. PMID: 35994499 Free PMC article.
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
Lewis WR, Malarkey EB, Tritschler D, Bower R, Pasek RC, Porath JD, Birket SE, Saunier S, Antignac C, Knowles MR, Leigh MW, Zariwala MA, Challa AK, Kesterson RA, Rowe SM, Drummond IA, Parant JM, Hildebrandt F, Porter ME, Yoder BK, Berbari NF. Lewis WR, et al. Among authors: parant jm. PLoS Genet. 2016 Jul 29;12(7):e1006220. doi: 10.1371/journal.pgen.1006220. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27472056 Free PMC article.
Truncating PKHD1 and PKD2 mutations alter energy metabolism.
Chumley P, Zhou J, Mrug S, Chacko B, Parant JM, Challa AK, Wilson LS, Berryhill TF, Barnes S, Kesterson RA, Bell PD, Darley-Usmar VM, Yoder BK, Mrug M. Chumley P, et al. Among authors: parant jm. Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F414-F425. doi: 10.1152/ajprenal.00167.2018. Epub 2018 Dec 19. Am J Physiol Renal Physiol. 2019. PMID: 30566001 Free PMC article.
A kidney resident macrophage subset is a candidate biomarker for renal cystic disease in preclinical models.
Li Z, Zimmerman KA, Cherakara S, Chumley PH, Collawn JF, Wang J, Haycraft CJ, Song CJ, Chacana T, Andersen RS, Croyle MJ, Aloria EJ, Hombal RP, Thomas IN, Chweih H, Simanyi KL, George JF, Parant JM, Mrug M, Yoder BK. Li Z, et al. Among authors: parant jm. Dis Model Mech. 2023 Jan 1;16(1):dmm049810. doi: 10.1242/dmm.049810. Epub 2023 Jan 16. Dis Model Mech. 2023. PMID: 36457161 Free PMC article.
Standardization of zebrafish drug testing parameters for muscle diseases.
Karuppasamy M, English KG, Henry CA, Manzini MC, Parant JM, Wright MA, Ruparelia AA, Currie PD, Gupta VA, Dowling JJ, Maves L, Alexander MS. Karuppasamy M, et al. Among authors: parant jm. Dis Model Mech. 2024 Jan 1;17(1):dmm050339. doi: 10.1242/dmm.050339. Epub 2024 Jan 18. Dis Model Mech. 2024. PMID: 38235578 Free PMC article.
37 results