1 - 25 of 94 results for author:"Hildebrandt F." in Literature citations
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| Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Soliman N.A., Hildebrandt F., Otto E.A., Nabhan M.M., Allen S.J., Badr A.M., Sheba M., Fadda S., Gawdat G., El-Kiky H. Saudi J Kidney Dis Transpl 23:1090-1098(2012) · Mapped (4) |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A. et al. |
| 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Ghosh A.K., Hurd T., Hildebrandt F. Am. J. Physiol. Renal Physiol. 303:F1225-9(2012) · Mapped (13) |
| FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Zhou W., Otto E.A., Cluckey A., Airik R., Hurd T.W., Chaki M., Diaz K., Lach F.P., Bennett G.R., Gee H.Y. et al. |
| Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Ovunc B., Ashraf S., Vega-Warner V., Bockenhauer D., Elshakhs N.A., Joseph M., Hildebrandt F. Nephron Clin Pract 120:c139-46(2012) · Mapped (2) |
| Integrin alpha3 mutations with kidney, lung, and skin disease. Has C., Sparta G., Kiritsi D., Weibel L., Moeller A., Vega-Warner V., Waters A., He Y., Anikster Y., Esser P. et al. N. Engl. J. Med. 366:1508-1514(2012) · UniProtKB (1) · Mapped (4) |
| Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E., Bielas S.L., Hill K.J., Iannicelli M., Brancati F. et al. Science 335:966-969(2012) · UniProtKB (4) |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E., Olvera J., Brancati F., Iannicelli M., Ikegami K. et al. |
| Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. Ovunc B., Otto E.A., Vega-Warner V., Saisawat P., Ashraf S., Ramaswami G., Fathy H.M., Schoeb D., Chernin G., Lyons R.H. et al. J. Am. Soc. Nephrol. 22:1815-1820(2011) · Mapped (5) |
| Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Saisawat P., Tasic V., Vega-Warner V., Kehinde E.O., Gunther B., Airik R., Innis J.W., Hoskins B.E., Hoefele J., Otto E.A. et al. Kidney Int. 81:196-200(2012) · Mapped (1) |
| MYO1E mutations and childhood familial focal segmental glomerulosclerosis. Mele C., Iatropoulos P., Donadelli R., Calabria A., Maranta R., Cassis P., Buelli S., Tomasoni S., Piras R., Krendel M. et al. N. Engl. J. Med. 365:295-306(2011) · UniProtKB (1) · Mapped (1) |
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Garcia-Gonzalo F.R., Corbit K.C., Sirerol-Piquer M.S., Ramaswami G., Otto E.A., Noriega T.R., Seol A.D., Robinson J.F., Bennett C.L., Josifova D.J. et al. |
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M. et al. |
| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V. et al. J. Clin. Invest. 121:2013-2024(2011) · UniProtKB (3) · Mapped (8) |
| Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. Al Badr W., Al Bader S., Otto E., Hildebrandt F., Ackley T., Peng W., Xu J., Li J., Owens K.M., Bloom D. et al. |
| Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. Baskin E., Selda Bayrakci U., Alehan F., Ozdemir H., Oner A., Horvath R., Vega-Warner V., Hildebrandt F., Ozaltin F. Pediatr. Nephrol. 26:1157-1161(2011) · Mapped (3) |
| Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Hoefele J., Nayir A., Chaki M., Imm A., Allen S.J., Otto E.A., Hildebrandt F. Pediatr. Nephrol. 26:967-971(2011) · Mapped (4) |
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V. et al. |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Otto E.A., Ramaswami G., Janssen S., Chaki M., Allen S.J., Zhou W., Airik R., Hurd T.W., Ghosh A.K., Wolf M.T. et al. J. Med. Genet. 48:105-116(2011) · UniProtKB (1) · Mapped (51) |
| Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Janssen S., Ramaswami G., Davis E.E., Hurd T., Airik R., Kasanuki J.M., Van Der Kraak L., Allen S.J., Beales P.L., Katsanis N. et al. Hum. Genet. 129:79-90(2011) · UniProtKB (1) |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A. et al. |
| The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hurd T., Zhou W., Jenkins P., Liu C.J., Swaroop A., Khanna H., Martens J., Hildebrandt F., Margolis B. Hum. Mol. Genet. 19:4330-4344(2010) · Mapped (6) |
| Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Matejas V., Hinkes B., Alkandari F., Al-Gazali L., Annexstad E., Aytac M.B., Barrow M., Blahova K., Bockenhauer D., Cheong H.I. et al. Hum. Mutat. 31:992-1002(2010) · Mapped (3) |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Valente E.M., Logan C.V., Mougou-Zerelli S., Lee J.H., Silhavy J.L., Brancati F., Iannicelli M., Travaglini L., Romani S., Illi B. et al. |
| Nephrocystin-3 is required for ciliary function in zebrafish embryos. Zhou W., Dai J., Attanasio M., Hildebrandt F. Am. J. Physiol. 299:F55-F62(2010) · UniProtKB (2) · Mapped (5) |