Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Nephrotic Syndrome - MYO1E Associated"
Page 1
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Krendel M, Leh S, Garone ME, Edwards-Richards A, Lin JJ, Brackman D, Knappskog P, Mikhailov A. Krendel M, et al. Pediatr Nephrol. 2023 Feb;38(2):439-449. doi: 10.1007/s00467-022-05634-x. Epub 2022 Jun 20. Pediatr Nephrol. 2023. PMID: 35723736 Free PMC article.
Computer modeling predicted these variants to be disruptive. In both patients, Myo1e was mislocalized. As a rule, pathogenic MYO1E variants map to the Myo1e motor and neck domain and are most often associated with steroid-resistant nephrotic …
Computer modeling predicted these variants to be disruptive. In both patients, Myo1e was mislocalized. As a rule, pathogenic …
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22. Kidney Int. 2011. PMID: 21697813 Free article.
To identify gene loci associated with steroid-resistant nephrotic syndrome (SRNS), we utilized homozygosity mapping and exome sequencing in a consanguineous pedigree with three affected siblings. ...The predicted loss of function is consistent with the …
To identify gene loci associated with steroid-resistant nephrotic syndrome (SRNS), we utilized homozygosity mapping and …
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T. Nandlal L, et al. Eur J Pediatr. 2022 Oct;181(10):3595-3606. doi: 10.1007/s00431-022-04581-x. Epub 2022 Aug 3. Eur J Pediatr. 2022. PMID: 35920919 Free PMC article.
There is a paucity of data identifying genetic mutations that account for the high rate of steroid-resistant nephrotic syndrome (SRNS) in a South African paediatric population. The aim was to identify causal mutations in genes implicated in SRNS within a South Afric …
There is a paucity of data identifying genetic mutations that account for the high rate of steroid-resistant nephrotic syndrome …