M R Eccles
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Explore the profile of M R Eccles including associated specialties, affiliations and a list of published articles.
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46
Citations
1037
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Recent Articles
1.
Stayner C, Poole C, McGlashan S, Pilanthananond M, Brauning R, Markie D, et al.
Sci Rep
. 2017 May;
7(1):1601.
PMID: 28487520
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an...
2.
Wu M, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, et al.
J Pathol
. 2013 Apr;
230(2):154-64.
PMID: 23620094
DICER1 is an endoribonuclease central to the generation of microRNAs (miRNAs) and short interfering RNAs (siRNAs). Germline mutations in DICER1 have been associated with a pleiotropic tumour predisposition syndrome and...
3.
Burger M, Brucker D, Baumgarten P, Ronellenfitsch M, Wanka C, Hasselblatt M, et al.
Int J Oncol
. 2012 May;
41(1):235-41.
PMID: 22552444
PAX2 is a paired box transcription factor possessing a fundamental role in the embryogenesis of hindbrain and urinary tract. PAX genes are proto-oncogenes, PAX2 expression may contribute to the pathogenesis...
4.
Li C, Nyman J, Braithwaite A, Eccles M
Oncogene
. 2011 May;
30(48):4824-34.
PMID: 21602887
The retinoblastoma protein (RB)-E2F1 pathway has a central role in regulating the cell cycle. Several PAX proteins (tissue-specific developmental regulators), including PAX8, interact with the RB protein, and thus regulate...
5.
Johnstone A, Davidson B, Roe A, Eccles M, Jolly R
N Z Vet J
. 2005 Oct;
53(5):307-14.
PMID: 16220122
Aim: To describe the pathology and inheritance of a congenital polycystic kidney disease (PKD) of sheep. Methods: Mode of inheritance of PKD was investigated by evaluation of results of the...
6.
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A, et al.
Eur J Hum Genet
. 2000 Nov;
8(11):820-6.
PMID: 11093271
The renal-coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine...
7.
Morison I, Eccles M, Reeve A
Blood
. 2000 Oct;
96(9):3023-8.
PMID: 11049980
The transcription of insulin-like growth factor 2 (IGF-2) is affected by genomic imprinting, a multistep process through which the parental origin of a gene influences its transcription. The maternal copy...
8.
Torban E, Eccles M, Favor J, Goodyer P
Am J Pathol
. 2000 Sep;
157(3):833-42.
PMID: 10980123
PAX2 is a transcription factor belonging to the evolutionarily conserved paired box family and is required during development of the central nervous system and genitourinary axis. Mutations in the PAX2...
9.
Eccles M, Jacobs G
Ann Acad Med Singap
. 2000 Sep;
29(3):337-45.
PMID: 10976387
Introduction: Vesico-ureteric reflux (VUR), reflux of urine from the bladder into the ureter and towards the kidney, is an important cause of end-stage renal failure in both children and adults....
10.
Eccles M, Schimmenti L
Clin Genet
. 1999 Aug;
56(1):1-9.
PMID: 10466411
Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal...