M. Eccles

发表

Targeted Therapies for Autosomal Dominant Polycystic Kidney Disease.

C. Stayner, D. G. Brooke, M. Bates, 2019, Current medicinal chemistry.

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

W. Dobyns, M. Eccles, M. Pierpont, 1995, Nature Genetics.

Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk.

M. Eccles, P. Goodyer, P. Clark, 2004, Journal of the American Society of Nephrology : JASN.

Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease

J. McEwan, C. Stayner, M. Eccles, 2015, Orphanet Journal of Rare Diseases.

Mild Forms of Alport Syndrome: Hereditary Nephropathy in the Absence of Extra-Renal Features

M. Eccles, H. Yoon, 2011 .

Genome-Scale Single Nucleotide Resolution Analysis of DNA Methylation in Human Autosomal Dominant Polycystic Kidney Disease

Euan J. Rodger, C. Stayner, M. Bates, 2018, American Journal of Nephrology.

Renal‐coloboma syndrome: a multi‐system developmental disorder caused by PAX2 mutations

M. Eccles, L. Schimmenti, 1999, Clinical genetics.

PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells.

M. Eccles, P. Goodyer, P. Clark, 2006, Kidney international.

Congenital polycystic kidney disease in lambs

M. Eccles, A. Johnstone, R. Jolly, 2005, New Zealand veterinary journal.

Unravelling the genetics of vesicoureteric reflux: a common familial disorder.

M. Eccles, M. Sullivan, M. Sullivan, 1996, Human molecular genetics.

PAX2 suppresses apoptosis in renal collecting duct cells.

M. Eccles, E. Torban, P. Goodyer, 2000, The American journal of pathology.

Neuronal apoptosis inhibitory protein is expressed in developing kidney and is regulated by PAX2.

A. MacKenzie, M. Eccles, D. Iglesias, 2006, American journal of physiology. Renal physiology.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

PAX2 Activates WNT4 Expression during Mammalian Kidney Development*

J. Pelletier, M. Eccles, M. Little, 2006, Journal of Biological Chemistry.

Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome.

J. Julien, C. Stayner, M. Eccles, 2003, Journal of the American Society of Nephrology : JASN.

Senescence Associated β-galactosidase Staining

M. Eccles, C. Li, 2012 .

Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies

M. Eccles, R. Erickson, L. McNoe, 1997, Clinical genetics.

WT1 is a modifier of the Pax2 mutant phenotype: cooperation and interaction between WT1 and Pax2

J. Pelletier, M. Eccles, T. Lee, 2003, Oncogene.

PAX genes in development and disease: the role of PAX2 in urogenital tract development.

R. Kumar, M. Eccles, M. Legge, 2002, The International journal of developmental biology.

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

H. Cunliffe, M. Eccles, N. Cho, 2000, Human molecular genetics.

Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.

M. Eccles, K. L. Choi, L. McNoe, 1998, Journal of medical genetics.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice.

M. Eccles, P. Goodyer, A. Dziarmaga, 2006, Journal of the American Society of Nephrology : JASN.

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

R. Brauning, J. McEwan, C. Stayner, 2017, Scientific Reports.

Repression of CMIP transcription by WT1 is relevant to podocyte health.

A. Schedl, M. Eccles, A. Moktefi, 2016, Kidney international.

Mutation of PAX2 in two siblings with renal-coloboma syndrome.

M. Eccles, P. Sanyanusin, L. McNoe, 1995, Human molecular genetics.

Erratum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux (Nature Genetics (1995) 9 (358- 364))

W. Dobyns, M. Eccles, M. Pierpont, 1996 .

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

R. Richards, S. Yu, G. Sutherland, 1997, Journal of medical genetics.

The genetics of primary vesico-ureteric reflux.

G. Jacobs, M. Eccles, 2000, Annals of the Academy of Medicine, Singapore.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

Rapamycin‐mediated suppression of renal cyst expansion in del34 Pkd1−/− mutant mouse embryos: An investigation of the feasibility of renal cyst prevention in the foetus

M. Eccles, Justin Shields, J. Shillingford, 2012, Nephrology.

Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

G. Germino, Jing Zhou, C. Stayner, 2006, Human molecular genetics.

Pax 2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease

G. Germino, Jing Zhou, C. Stayner, 2006 .

Cloning and Characterization of the Human PAX2Promoter*

H. Cunliffe, M. Eccles, T. Ward, 1998, The Journal of Biological Chemistry.

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

A. Munnich, R. Salomon, C. Antignac, 2000, European Journal of Human Genetics.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

H. Cunliffe, K. Devriendt, M. Masuno, 1997, American journal of human genetics.

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

H. Cunliffe, M. Eccles, K. Devriendt, 1998, Journal of medical genetics.

Familial fibronectin glomerulopathy: analysis of chromosome 1q32 and uteroglobin gene loci in a large New Zealand family

M. Eccles, L. McNoe, M. Watson, 2001 .

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome

M. Eccles, L. Schimmenti, L. Heidet, 2011, European Journal of Human Genetics.

Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.

M. Eccles, P. Goodfellow, A. Reeve, 1992, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

Renal-coloboma syndrome in a Brazilian family.

M. Eccles, R. Giugliani, P. Gus, 2001, Archives of ophthalmology.

Cloning of novel Wilms tumor gene (WT1) cDNAs; evidence for antisense transcription of WT1.

Osamu Ogawa, M. Eccles, J. Szeto, 1994, Oncogene.

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

E. Haan, D. Milewicz, K. Holman, 1999, Clinical dysmorphology.

Human insulin-like growth factor type I and type II receptors are not imprinted.

M. Eccles, A. Reeve, O. Ogawa, 1993, Human molecular genetics.