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Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. ...RESULTS: Mutations in NPHP1 and NPHP3 were the most common genetic defects. Overall, 45% of patients prese …
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage ren …
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T, Udwan K, John R, Rana A, Haghighi A, Xu L, Hack S, Reich HN, Hladunewich MA, Cattran DC, Paterson AD, Pei Y, Barua M. Yao T, et al. Clin J Am Soc Nephrol. 2019 Feb 7;14(2):213-223. doi: 10.2215/CJN.08750718. Epub 2019 Jan 15. Clin J Am Soc Nephrol. 2019. PMID: 30647093 Free PMC article.
An expanded panel of 109 genes linked to FSGS, glomerular basement membrane abnormalities, as well as causes of pediatric ESKD including congenital abnormalities of the kidney and urinary tract (CAKUT) and nephronophthisis, were examined. RESULTS: The cohort was composed o …
An expanded panel of 109 genes linked to FSGS, glomerular basement membrane abnormalities, as well as causes of pediatric ESKD including con …
Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
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. Garcia H, et al. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119. doi: 10.1073/pnas.2115960119. Epub 2022 Apr 28. Proc Natl Acad Sci U S A. 2022. PMID: 35482924 Free PMC article.
Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. ...In conclusion, using in vitro and in vivo models, we showed that p …
Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as th …
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J, Su X, Zhang H, Wu W, Li J, Chen Y, Li J, Fu Q, Wu C, Zhong X, Wang C, Liu L. Li J, et al. Pediatr Nephrol. 2023 May;38(5):1609-1620. doi: 10.1007/s00467-022-05763-3. Epub 2022 Oct 13. Pediatr Nephrol. 2023. PMID: 36227438 Free PMC article.
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) have strong genotype and phenotype heterogeneity, and the transplantation strategy of Boichis syndrome is still controversial. ...Eighteen of 20 patients with non-NPHP1 mutations had compound heterozygous mutation …
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) have strong genotype and phenotype heterogeneity, and the transplantation …
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F. Chaki M, et al. Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24. Kidney Int. 2011. PMID: 21866095 Free PMC article.
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure in the first three decades of life. ...Thus, our studies have important implications for genetic counseling and planning of renal replaceme …
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure …