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Quoted phrase not found in phrase index: "Nephronophthisis 11"
Page 1
The ciliary transitional zone and nephrocystins.
Shiba D, Yokoyama T. Shiba D, et al. Differentiation. 2012 Feb;83(2):S91-6. doi: 10.1016/j.diff.2011.11.006. Epub 2011 Dec 12. Differentiation. 2012. PMID: 22169048 Review.
Joubert syndrome (JBTS), Meckel Gruber syndrome (MKS) and Nephronophthisis (NPHP) are overlapping syndromes. Recent studies show that JBST and MKS responsible gene products are localized in the transitional zone of the cilia, where they function as a diffusion barrier, and …
Joubert syndrome (JBTS), Meckel Gruber syndrome (MKS) and Nephronophthisis (NPHP) are overlapping syndromes. Recent studies show that …
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. ...Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extr …
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage ren …
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. ...Using a medium-throughput drug-screen in NPHP1 knockdown cells, we …
Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as th …
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q. Wang J, et al. Am J Ophthalmol. 2023 Aug;252:188-204. doi: 10.1016/j.ajo.2023.03.025. Epub 2023 Mar 27. Am J Ophthalmol. 2023. PMID: 36990420
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthisis. This study aimed to evaluate whether different phenotypes are associated with different variants or subsets of 10 SLSN-associated genes based on an i …
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthisis. This stud …
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children presented with isolated nephronophthisis, whereas the other 49% exhibited related ciliopathies. ...A homozygous NPHP1 deletion not only led to juvenile nephronophthisis but also wa …
Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children presented with isolated nephronophthisis, where …
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.
Awazu M, Yamada M, Asada N, Hashiguchi A, Kosaki K, Matsumura K. Awazu M, et al. CEN Case Rep. 2022 Feb;11(1):116-119. doi: 10.1007/s13730-021-00640-8. Epub 2021 Aug 25. CEN Case Rep. 2022. PMID: 34435324 Free PMC article.
We report a girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. The patient had mental retardation, postaxial polydactyly, and ataxic breathing, and was diagnosed as having compound heterozygous CC2D2A missense mutations at age 5. ... …
We report a girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. The patient had mental retarda …
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K. Schröder S, et al. Orphanet J Rare Dis. 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. Orphanet J Rare Dis. 2023. PMID: 37131188 Free PMC article.
While regarded as a nosological entity by some authors, there is growing evidence that COMA designates merely a neurological symptom with etiologic heterogeneity. In 2016, we reported an observational study in a cohort of 21 patients diagnosed as having COMA. Thorough re-e …
While regarded as a nosological entity by some authors, there is growing evidence that COMA designates merely a neurological symptom with et …
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). ...
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13 …
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Fleming LR, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146704 Free PMC article.
Kidney disease was detected in 30%, most commonly in association with the following genes: CEP290 (six of six), TMEM67 (11 of 22), and AHI1 (three of six). No kidney disease was identified in patients with mutations in C5orf42 (zero of 15) or KIAA0586 (zero of six). Prenat …
Kidney disease was detected in 30%, most commonly in association with the following genes: CEP290 (six of six), TMEM67 (11 of 22), an …
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Yamamura T, Morisada N, Nozu K, Minamikawa S, Ishimori S, Toyoshima D, Ninchoji T, Yasui M, Taniguchi-Ikeda M, Morioka I, Nakanishi K, Nishio H, Iijima K. Yamamura T, et al. Clin Exp Nephrol. 2017 Feb;21(1):136-142. doi: 10.1007/s10157-016-1256-x. Epub 2016 Mar 11. Clin Exp Nephrol. 2017. PMID: 26968886
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) are a frequent cause of renal failure for children and adolescents. ...
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) are a frequent cause of renal failure for children and adolescents. ...
23 results