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Tong H, Zhao F, Yang Y, Qiu X, Zhu L, Yu Z. Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion. Clin Pediatr (Phila) 2023;:99228231162416. [PMID: 36942623 DOI: 10.1177/00099228231162416] [Reference Citation Analysis]
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Steinman B, Del Rio M, Zolotnitskaya A, Hayde N. A 5-year-old girl with kidney impairment and severe anemia: Answers. Pediatr Nephrol 2023;38:393-6. [PMID: 35695962 DOI: 10.1007/s00467-022-05608-z] [Reference Citation Analysis]
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Kieckhöfer E, Slaats GG, Ebert LK, Albert MC, Dafinger C, Kashkar H, Benzing T, Schermer B. Primary cilia suppress Ripk3-mediated necroptosis. Cell Death Discov 2022;8:477. [PMID: 36460631 DOI: 10.1038/s41420-022-01272-2] [Reference Citation Analysis]
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Wang D, Chen X, Wen Q, Li Z, Chen W, Chen W, Wang X. A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature. Mol Genet Genomic Med 2022;10:e2076. [PMID: 36263627 DOI: 10.1002/mgg3.2076] [Reference Citation Analysis]
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Li J, Su X, Zhang H, Wu W, Li J, Chen Y, Li J, Fu Q, Wu C, Zhong X, Wang C, Liu L. Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP. Pediatr Nephrol 2022. [PMID: 36227438 DOI: 10.1007/s00467-022-05763-3] [Reference Citation Analysis]
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König JC, Karsay R, Gerß J, Schlingmann K, Dahmer-heath M, Telgmann A, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra J, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney International Reports 2022. [DOI: 10.1016/j.ekir.2022.05.035] [Reference Citation Analysis]
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Ansari SS, Dillard ME, Zhang Y, Austria MA, Boatwright N, Shelton EL, Johnson A, Young BM, Rankovic Z, Robinson CG, Schuetz JD, Ogden SK. Morphogen Directed Coordination of GPCR Activity Promotes Primary Cilium Function for Downstream Signaling.. [DOI: 10.1101/2022.05.06.490951] [Reference Citation Analysis]
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Garcia H, Serafin AS, Silbermann F, Porée E, Viau A, Mahaut C, Billot K, Birgy É, Garfa-Traore M, Roy S, Ceccarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-Hanin F, Cagnard N, Del Nery E, Fila M, Sin-Monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau JP, Benmerah A, Delous M, Briseño-Roa L, Saunier S. Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies. Proc Natl Acad Sci U S A 2022;119:e2115960119. [PMID: 35482924 DOI: 10.1073/pnas.2115960119] [Reference Citation Analysis]
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Chen X, Faviez C, Vincent M, Briseño-Roa L, Faour H, Annereau JP, Lyonnet S, Zaidan M, Saunier S, Garcelon N, Burgun A. Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis. Front Pharmacol 2022;13:786710. [PMID: 35401179 DOI: 10.3389/fphar.2022.786710] [Reference Citation Analysis]
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Garcia H, Serafin A, Silbermann F, Poree E, Mahaut C, Viau A, Billot K, Birgy É, Garfa-traore M, Roy S, Cecarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-hanin F, Cagnard N, Del Nery E, Fila M, Sin-monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau J, Benmerah A, Delous M, Briseño-roa L, Saunier S. Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies.. [DOI: 10.1101/2022.01.21.477191] [Reference Citation Analysis]
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Rosa E Silva I, Binó L, Johnson CM, Rutherford TJ, Neuhaus D, Andreeva A, Čajánek L, van Breugel M. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies. Structure 2021:S0969-2126(21)00302-6. [PMID: 34499853 DOI: 10.1016/j.str.2021.08.007] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
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