Filipa M Lopes
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Explore the profile of Filipa M Lopes including associated specialties, affiliations and a list of published articles.
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19
Citations
106
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Recent Articles
1.
Lopes F, Grenier C, Jarvis B, Al Mahdy S, Lene-McKay A, Gurney A, et al.
Elife
. 2024 Jul;
13.
PMID: 38990208
Rare early-onset lower urinary tract disorders include defects of functional maturation of the bladder. Current treatments do not target the primary pathobiology of these diseases. Some have a monogenic basis,...
2.
Bantounas I, Rooney K, Lopes F, Tengku F, Woods S, Zeef L, et al.
Stem Cell Reports
. 2024 May;
19(6):859-876.
PMID: 38788724
Hepatocyte nuclear factor 1B (HNF1B) encodes a transcription factor expressed in developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest monogenic cause of dysplastic kidney malformations (DKMs). To understand...
3.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
4.
Kabir M, Stuart H, Lopes F, Fotiou E, Keavney B, Doig A, et al.
Sci Rep
. 2023 Aug;
13(1):13204.
PMID: 37580336
Congenital renal tract malformations (RTMs) are the major cause of severe kidney failure in children. Studies to date have identified defined genetic causes for only a minority of human RTMs....
5.
Grenier C, Lopes F, Cueto-Gonzalez A, Rovira-Moreno E, Gander R, Jarvis B, et al.
Kidney Int Rep
. 2023 Jul;
8(7):1417-1429.
PMID: 37441484
Introduction: Urofacial, or Ochoa, syndrome (UFS) is an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. It also features an abnormal...
6.
Chan M, Sadeghi-Alavijeh O, Lopes F, Hilger A, Stanescu H, Voinescu C, et al.
Elife
. 2022 Sep;
11.
PMID: 36124557
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association...
7.
Beaman G, Lopes F, Hofmann A, Roesch W, Promm M, Bijlsma E, et al.
Front Genet
. 2022 Jul;
13:896125.
PMID: 35812751
Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in , coding for...
8.
Beaman G, Woolf A, Lopes F, Guo S, Harkness J, Cervellione R, et al.
J Pediatr Urol
. 2022 May;
18(3):362.e1-362.e8.
PMID: 35491304
Introduction: Bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member...
9.
Lopes F, Kimber S, Bantounas I
Bio Protoc
. 2021 Oct;
11(17):e4150.
PMID: 34604455
MicroRNAs are small RNAs that negatively regulate gene expression and play an important role in fine-tuning molecular pathways during development. There is increasing interest in studying their function in the...
10.
Hindi E, Williams C, Zeef L, Lopes F, Newman K, Davey M, et al.
Sci Rep
. 2021 Jul;
11(1):15529.
PMID: 34330963
Diabetes mellitus (DM) is the leading cause of chronic kidney disease and diabetic nephropathy is widely studied. In contrast, the pathobiology of diabetic urinary bladder disease is less understood despite...