Detalhe da pesquisa
1.
An atlas of healthy and injured cell states and niches in the human kidney.
Nature
; 619(7970): 585-594, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468583
2.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565611
3.
Plasma Proteins associated with Chronic Histopathologic Lesions on Kidney Biopsy.
J Am Soc Nephrol
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656806
4.
Pax protein depletion in proximal tubules triggers conserved mechanisms of resistance to acute ischemic kidney injury preventing transition to chronic kidney disease.
Kidney Int
; 105(2): 312-327, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977366
5.
Sodium glucose co-transporter 2 inhibition increases epidermal growth factor expression and improves outcomes in patients with type 2 diabetes.
Kidney Int
; 104(4): 828-839, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543256
6.
Glomerular endothelial cell-podocyte stresses and crosstalk in structurally normal kidney transplants.
Kidney Int
; 101(4): 779-792, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952098
7.
A multimodal and integrated approach to interrogate human kidney biopsies with rigor and reproducibility: guidelines from the Kidney Precision Medicine Project.
Physiol Genomics
; 53(1): 1-11, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197228
8.
Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney.
Development
; 145(16)2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166318
9.
Hypertension induces glomerulosclerosis in phospholipase C-ε1 deficiency.
Am J Physiol Renal Physiol
; 318(5): F1177-F1187, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32223311
10.
SARS-CoV-2 receptor networks in diabetic and COVID-19-associated kidney disease.
Kidney Int
; 98(6): 1502-1518, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33038424
11.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
12.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
13.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J Am Soc Nephrol
; 29(7): 1849-1858, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654216
14.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
15.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Am J Hum Genet
; 94(6): 884-90, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814193
16.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24882706
17.
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Pediatr Nephrol
; 32(3): 467-476, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766458
18.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
J Med Genet
; 53(3): 208-14, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26673778
19.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490104
20.
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.
J Am Soc Nephrol
; 27(7): 1970-83, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26534921