Search details
1.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Article
in English
| MEDLINE | ID: mdl-37216524
2.
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int
; 102(2): 405-420, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35643372
3.
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Nephrol Dial Transplant
; 37(10): 1895-1905, 2022 09 22.
Article
in English
| MEDLINE | ID: mdl-35485766
4.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32750457
5.
Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Clin Nephrol
; 94(4): 197-206, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32870147
6.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med
; 374(19): 1853-63, 2016 May 12.
Article
in English
| MEDLINE | ID: mdl-27120771
7.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
J Am Soc Nephrol
; 29(9): 2298-2309, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30049680
8.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29967284
9.
Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
Proteomics
; 18(7): e1700456, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29436780
10.
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Hum Mol Genet
; 25(6): 1152-64, 2016 Mar 15.
Article
in English
| MEDLINE | ID: mdl-26740551
11.
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
J Am Soc Nephrol
; 27(11): 3447-3458, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27036738
12.
Optical coherence tomography enables imaging of tumor initiation in the TAg-RB mouse model of retinoblastoma.
Mol Vis
; 21: 515-22, 2015.
Article
in English
| MEDLINE | ID: mdl-25999678
13.
Isocycloseram: A new active ingredient for leaf-cutting ants control.
PLoS One
; 19(5): e0300187, 2024.
Article
in English
| MEDLINE | ID: mdl-38722866
14.
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.
Kidney Int Rep
; 9(5): 1451-1457, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38707821
15.
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Kidney Int Rep
; 8(3): 455-466, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36938073
16.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome Med
; 15(1): 62, 2023 08 23.
Article
in English
| MEDLINE | ID: mdl-37612755
17.
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
J Proteomics
; 252: 104424, 2022 02 10.
Article
in English
| MEDLINE | ID: mdl-34775100
18.
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease.
Front Pediatr
; 8: 42, 2020.
Article
in English
| MEDLINE | ID: mdl-32219082
19.
A tiered high-throughput screening approach for evaluation of estrogen and androgen receptor modulation by environmentally relevant bisphenol A substitutes.
Sci Total Environ
; 717: 134743, 2020 May 15.
Article
in English
| MEDLINE | ID: mdl-31836225
20.
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.
Genome Med
; 12(1): 54, 2020 06 24.
Article
in English
| MEDLINE | ID: mdl-32580754