| Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants. | Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.
Li Y, Dai L, Xu H, Huang J, Zhang J, Mei Z, Zhang R., Free PMC Article | 04/8/2024 |
| Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA., Free PMC Article | 12/24/2022 |
| Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. | Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
Chen W, Wang F, Zeng W, Zhang X, Shen L, Zhang Y, Zhou X., Free PMC Article | 11/5/2022 |
| Retinal dystrophy as part of TTC21B-associated ciliopathy. | Retinal dystrophy as part of TTC21B-associated ciliopathy.
Ben-Yosef T, Asia Batsir N, Ali Nasser T, Ehrenberg M. | 01/1/2022 |
| A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. | A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
Strong A, Li D, Mentch F, Hakonarson H., Free PMC Article | 08/7/2021 |
| Case Reports: 3 novel TTC21B mutations in two Chinese pediatric nephronophthisis-related ciliopathies cases that both presented with end-stage renal disease. | Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H, Su B, Liu X, Xiao H, Ding J, Yao Y. | 09/8/2018 |
| TTC21B mutation is associated with glomerular and cystic kidney diseases. | Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E. | 09/30/2017 |
| Exome sequencing and further CRB2 analysis revealed that both siblings are compound heterozygotes for CRB2 mutations p.N800K and p.Gly1036Alafs*43, and heterozygous for a deleterious splice variant in the ciliopathy gene TTCB21 | Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. | 07/8/2017 |
| We demonstrated that the TTC21B gene product IFT139, an intraflagellar transport-A component, mainly localizes at the base of the primary cilium in developing podocytes from human fetal tissue and in undifferentiated cultured podocytes. | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C., Free PMC Article | 01/10/2015 |
| TTC21B contributes pathogenic alleles to approximately 5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N., Free PMC Article | 04/23/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F, GPN Study Group., Free PMC Article | 12/5/2010 |