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Did you mean mc hale d[au] (59 results)?
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG. Kiryluk K, et al. Among authors: gale d. Nat Genet. 2014 Nov;46(11):1187-96. doi: 10.1038/ng.3118. Epub 2014 Oct 12. Nat Genet. 2014. PMID: 25305756 Free PMC article.
Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.
Mouliere F, Smith CG, Heider K, Su J, van der Pol Y, Thompson M, Morris J, Wan JCM, Chandrananda D, Hadfield J, Grzelak M, Hudecova I, Couturier DL, Cooper W, Zhao H, Gale D, Eldridge M, Watts C, Brindle K, Rosenfeld N, Mair R. Mouliere F, et al. Among authors: gale d. EMBO Mol Med. 2021 Aug 9;13(8):e12881. doi: 10.15252/emmm.202012881. Epub 2021 Jul 22. EMBO Mol Med. 2021. PMID: 34291583 Free PMC article.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH. Connor TM, et al. Among authors: gale dp. PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28267784 Free PMC article.
We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNAPhe (m.616T>C). Thus mutations in mitochondrial DNA can cause maternally inherited renal disease, likely mediated through reduced function of mitochondrial t …
We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNAPhe (m.616T>C). T …
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. Mohamed M, et al. Among authors: gale dp. Ann Hum Genet. 2022 May;86(3):145-152. doi: 10.1111/ahg.12454. Epub 2021 Dec 9. Ann Hum Genet. 2022. PMID: 34888854
COL4A3-5 gene panel analysis surprisingly reveals two distinct, confirmed splice-altering variants in COL4A3 (NM_000091.4: c.1150+5G>A and c.4028-3C>T) present in homozygous or compound heterozygous state in individuals with kidney failure. ...
COL4A3-5 gene panel analysis surprisingly reveals two distinct, confirmed splice-altering variants in COL4A3 (NM_000091.4: c.1150+5G& …
Sheathless capillary electrophoresis-electrospray ionization mass spectrometry using 10 mu m I.D. capillaries: analyses of tryptic digests of cytochrome c.
Wahl JH, Gale DC, Smith RD. Wahl JH, et al. Among authors: gale dc. J Chromatogr A. 1994 Jan 21;659(1):217-22. doi: 10.1016/0021-9673(94)85026-7. J Chromatogr A. 1994. PMID: 8118559
In this study, we demonstrate the separation of tryptic digests of bovine, Candida krusei and equine cytochrome c using a new electrospray ionization (ESI) interface for CE-MS that does not require additional sheath make-up fluid or mechanical assistance to aid the ESI pro …
In this study, we demonstrate the separation of tryptic digests of bovine, Candida krusei and equine cytochrome c using a new electro …
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.
Lin FJ, Yao L, Hu XQ, Bian F, Ji G, Jiang GR, Gale DP, Ren HQ. Lin FJ, et al. Among authors: gale dp. Clin Sci (Lond). 2019 Jan 3;133(1):9-21. doi: 10.1042/CS20180676. Print 2019 Jan 15. Clin Sci (Lond). 2019. PMID: 30523047
Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the PODXL gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree. ...In the present study, we report the identification of a heterozygou …
Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the PODXL gene encoding podocalyxin was identified in an auto …
Genetic loci influencing kidney function and chronic kidney disease.
Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS. Chambers JC, et al. Among authors: gale dp. Nat Genet. 2010 May;42(5):373-5. doi: 10.1038/ng.566. Epub 2010 Apr 11. Nat Genet. 2010. PMID: 20383145 Free PMC article.
Epistatic role of the MYH9/APOL1 region on familial hematuria genes.
Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C. Voskarides K, et al. Among authors: gale dp. PLoS One. 2013;8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14. PLoS One. 2013. PMID: 23516419 Free PMC article.
Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild …
Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 g …
Ceramide mediates vascular dysfunction in diet-induced obesity by PP2A-mediated dephosphorylation of the eNOS-Akt complex.
Zhang QJ, Holland WL, Wilson L, Tanner JM, Kearns D, Cahoon JM, Pettey D, Losee J, Duncan B, Gale D, Kowalski CA, Deeter N, Nichols A, Deesing M, Arrant C, Ruan T, Boehme C, McCamey DR, Rou J, Ambal K, Narra KK, Summers SA, Abel ED, Symons JD. Zhang QJ, et al. Among authors: gale d. Diabetes. 2012 Jul;61(7):1848-59. doi: 10.2337/db11-1399. Epub 2012 May 14. Diabetes. 2012. PMID: 22586587 Free PMC article.
27 results