1
|
Jalanko H: Congenital nephrotic syndrome.
Pediatr Nephrol. 24:2121–2128. 2009.PubMed/NCBI View Article : Google Scholar
|
2
|
Bolk S, Puffenberger EG, Hudson J, Morton
DH and Chakravarti A: Elevated frequency and allelic heterogeneity
of congenital nephrotic syndrome, Finnish type, in the old order
Mennonites. Am J Hum Genet. 65:1785–1790. 1999.PubMed/NCBI View
Article : Google Scholar
|
3
|
Preston R, Stuart HM and Lennon R: Genetic
testing in steroid-resistant nephrotic syndrome: Why, who, when and
how? Pediatr Nephrol. 34:195–210. 2019.PubMed/NCBI View Article : Google Scholar
|
4
|
Fogo AB, Lusco MA, Najafian B and Alpers
CE: AJKD Atlas of Renal Pathology: Congenital nephrotic syndrome of
finnish type. Am J Kidney Dis. 66:e11–e12. 2015.PubMed/NCBI View Article : Google Scholar
|
5
|
Gigante M, Piemontese M, Gesualdo L,
Iolascon A and Aucella F: Molecular and genetic basis of inherited
nephrotic syndrome. Int J Nephrol. 2011(792195)2011.PubMed/NCBI View Article : Google Scholar
|
6
|
Golob V, Nosan G, Bertok S, Frelih M,
Boštjanči E and Rus R: A novel mutation of congenital nephrotic
syndrome in a Slovenian child eventually receiving a renal
transplant. Croat Med J. 62:187–191. 2021.PubMed/NCBI View Article : Google Scholar
|
7
|
Khan A, Fornes O, Stigliani A, Gheorghe M,
Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni
SR, Tan G, et al: JASPAR 2018: Update of the open-access database
of transcription factor binding profiles and its web framework.
Nucleic Acids Res. 46:D260–D266. 2018.PubMed/NCBI View Article : Google Scholar
|
8
|
Fornes O, Castro-Mondragon JA, Khan A, van
der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M,
Baranašić D, et al: JASPAR 2020: Update of the open-access database
of transcription factor binding profiles. Nucleic Acids Res.
48:D87–D92. 2020.PubMed/NCBI View Article : Google Scholar
|
9
|
Krull M, Petrusma M, Makalowski W, Brosius
J and Schmitz J: Functional persistence of exonized mammalian-wide
interspersed repeat elements (MIRs). Genome Res. 17:1139–1145.
2007.PubMed/NCBI View Article : Google Scholar
|
10
|
Jjingo D, Conley AB, Wang J,
Mariño-Ramírez L, Lunyak VV and Jordan IK: Mammalian-wide
interspersed repeat (MIR)-derived enhancers and the regulation of
human gene expression. Mob DNA. 5(14)2014.PubMed/NCBI View Article : Google Scholar
|
11
|
Khan MT, Ali S, Zeb MT, Kaushik AC, Malik
SI and Wei DQ: Gibbs free energy calculation of mutation in pnca
and rpsa associated with pyrazinamide resistance. Front Mol Biosci.
7(52)2020.PubMed/NCBI View Article : Google Scholar
|
12
|
Al Qahtani NH, AbdulAzeez S, Almandil NB,
Fahad Alhur N, Alsuwat HS, Al Taifi HA, Al-Ghamdi AA, Rabindran
Jermy B, Abouelhoda M, Subhani S, et al: Whole-genome sequencing
reveals exonic variation of ASIC5 gene results in recurrent
pregnancy loss. Front Med (Lausanne). 8(699672)2021.PubMed/NCBI View Article : Google Scholar
|
13
|
Majidi S, Fouts A, Pyle L, Chambers C,
Armstrong T, Wang Z, Batish SD, Klingensmith G and Steck AK: Can
biomarkers help target maturity-onset diabetes of the young genetic
testing in antibody-negative diabetes? Diabetes Technol Ther.
20:106–112. 2018.PubMed/NCBI View Article : Google Scholar
|
14
|
Caridi G, Gigante M, Ravani P, Trivelli A,
Barbano G, Scolari F, Dagnino M, Murer L, Murtas C, Edefonti A, et
al: Clinical features and long-term outcome of nephrotic syndrome
associated with heterozygous NPHS1 and NPHS2 mutations. Clin J Am
Soc Nephrol. 4:1065–1072. 2009.PubMed/NCBI View Article : Google Scholar
|
15
|
Golson ML and Kaestner KH: Fox
transcription factors: From development to disease. Development.
143:4558–4570. 2016.PubMed/NCBI View Article : Google Scholar
|
16
|
Katoh M and Katoh M: Human FOX gene family
(Review). Int J Oncol. 25:1495–1500. 2004.PubMed/NCBI
|
17
|
Neznanov N, Umezawa A and Oshima RG: A
regulatory element within a coding exon modulates keratin 18 gene
expression in transgenic mice. J Biol Chem. 272:27549–27557.
1997.PubMed/NCBI View Article : Google Scholar
|
18
|
Fiszbein A, Krick KS, Begg BE and Burge
CB: Exon-mediated activation of transcription starts. Cell.
179:1551–1565.e17. 2019.PubMed/NCBI View Article : Google Scholar
|
19
|
Stergachis AB, Haugen E, Shafer A, Fu W,
Vernot B, Reynolds A, Raubitschek A, Ziegler S, LeProust EM, Akey
JM, et al: Exonic transcription factor binding directs codon choice
and affects protein evolution. Science. 342:1367–1372.
2013.PubMed/NCBI View Article : Google Scholar
|
20
|
Waldrop E, Al-Obaide MAI and Vasylyeva TL:
GANAB and PKD1 variations in a 12 years old female patient with
early onset of autosomal dominant polycystic kidney disease. Front
Genet. 10(44)2019.PubMed/NCBI View Article : Google Scholar
|
21
|
Khan AH, Lin A and Smith DJ: Discovery and
characterization of human exonic transcriptional regulatory
elements. PLoS One. 7(e46098)2012.PubMed/NCBI View Article : Google Scholar
|
22
|
Castellanos M, Mothi N and Muñoz V:
Eukaryotic transcription factors can track and control their target
genes using DNA antennas. Nat Commun. 11(540)2020.PubMed/NCBI View Article : Google Scholar
|
23
|
Fontrodona N, Aubé F, Claude JB, Polvèche
H, Lemaire S, Tranchevent LC, Modolo L, Mortreux F, Bourgeois CF
and Auboeuf D: Interplay between coding and exonic splicing
regulatory sequences. Genome Res. 29:711–722. 2019.PubMed/NCBI View Article : Google Scholar
|
24
|
Joynt AT, Evans TA, Pellicore MJ,
Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio
DL, Bowling AD, et al: Evaluation of both exonic and intronic
variants for effects on RNA splicing allows for accurate assessment
of the effectiveness of precision therapies. PLoS Genet.
16(e1009100)2020.PubMed/NCBI View Article : Google Scholar
|
25
|
National Center for Biotechnology
Information: Genomic variation as it relates to human health
(ClinVar); [VCV000429811.3]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000429811.3.
Accessed October 24, 2021.
|
26
|
Roca X, Sachidanandam R and Krainer AR:
Intrinsic differences between authentic and cryptic 5' splice
sites. Nucleic Acids Res. 31:6321–6333. 2003.PubMed/NCBI View Article : Google Scholar
|
27
|
Anna A and Monika G: Splicing mutations in
human genetic disorders: Examples, detection, and confirmation. J
Appl Genet. 59:253–268. 2018.PubMed/NCBI View Article : Google Scholar
|