Search details
1.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet
; 104(1): 45-54, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30609407
2.
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
J Am Soc Nephrol
; 31(6): 1191-1211, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32381600
3.
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
J Am Soc Nephrol
; 30(3): 393-405, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30737270
4.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-29534211
5.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant
; 34(3): 474-485, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30295827
6.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol
; 29(8): 2123-2138, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29959197
7.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30143558
8.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28893421
9.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Am J Med Genet A
; 176(11): 2460-2465, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30079490
10.
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Pediatr Nephrol
; 33(2): 305-314, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28921387
11.
Impact of Weight Change on Glycemic Control and Metabolic Parameters in T2D: A Retrospective US Study Based on Real-World Data.
Diabetes Ther
; 15(2): 409-426, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38038898
12.
Real-World Patterns of Basal Insulin Use with Other Diabetes Medications Among People with Type 2 Diabetes Between 2014 and 2020.
Diabetes Ther
; 14(7): 1157-1174, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37184630
13.
Gaps Remain for Achieving HbA1c Targets for People with Type 1 or Type 2 Diabetes Using Insulin: Results from NHANES 2009-2020.
Diabetes Ther
; 14(6): 967-975, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37067668
14.
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.
PLoS One
; 13(1): e0191503, 2018.
Article
in English
| MEDLINE | ID: mdl-29346415
15.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest
; 128(10): 4313-4328, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-30179222
16.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nat Commun
; 9(1): 1960, 2018 05 17.
Article
in English
| MEDLINE | ID: mdl-29773874
17.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol
; 13(1): 53-62, 2018 01 06.
Article
in English
| MEDLINE | ID: mdl-29127259
18.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
J Clin Invest
; 127(3): 912-928, 2017 Mar 01.
Article
in English
| MEDLINE | ID: mdl-28165339
19.
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
J Clin Invest
; 127(12): 4257-4269, 2017 12 01.
Article
in English
| MEDLINE | ID: mdl-29058690
20.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nat Genet
; 49(10): 1529-1538, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28805828