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  1. Article ; Online: Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

    Menara, Giulia / Lefort, Nathalie / Antignac, Corinne / Mollet, Géraldine

    Stem cell research

    2020  Volume 46, Page(s) 101878

    Abstract: Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood ... ...

    Abstract Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in the European population. The PBMCs were reprogrammed by non-integrative viral transduction of the Yamanaka's factors. The resulting iPSCs display normal karyotype, express pluripotency hallmarks and are capable of multilineage differentiation, offering a useful tool to study pathological mechanisms of SRNS and perform drug testing.
    MeSH term(s) Humans ; Induced Pluripotent Stem Cells ; Intracellular Signaling Peptides and Proteins ; Leukocytes, Mononuclear ; Membrane Proteins ; Mutation ; Nephrotic Syndrome/genetics ; Steroids/therapeutic use
    Chemical Substances Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; NPHS2 protein ; Steroids
    Language English
    Publishing date 2020-06-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2020.101878
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  2. Article ; Online: Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

    Dirix, Marie / Gribouval, Olivier / Arrondel, Christelle / Benjelloun, Saadia / Boyer, Olivia / Charbit, Marina / Antignac, Corinne / Heidet, Laurence / Dorval, Guillaume

    Clinical genetics

    2023  Volume 103, Issue 6, Page(s) 693–698

    Abstract: Whole-genome sequencing (WGS) now allows identification of multiple variants in non-coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic variant in ... ...

    Abstract Whole-genome sequencing (WGS) now allows identification of multiple variants in non-coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic variant in NPHS2, which encodes podocin, a protein implicated in autosomal recessive steroid resistant nephrotic syndrome (SRNS), we compare herein three different tools including a newly developed targeted NGS-based RNA-sequencing to explore the splicing effect of intronic variations. WGS identified two different variants in NPHS2 eventually involved in the disease. Through RT-PCR, exon-trapping Minigene assay and targeted RNA sequencing, we were able to identify the splicing defect in NPHS2 mRNA from patient kidney tissue. Only targeted RNA-seq simultaneously analyzed the effect of multiple variants and offered the opportunity to quantify consequences on splicing. Identifying deep intronic variants and their role in disease is of utmost importance. Alternative splicing can be predicted by in silico tools but always requires confirmation through functional testing with RNA analysis from the implicated tissue remaining the gold standard. When several variants with potential effects on splicing are identified by WGS, a targeted RNA sequencing panel could be of great value.
    MeSH term(s) Humans ; Mutation ; Whole Genome Sequencing ; Nephrotic Syndrome/genetics ; RNA, Messenger/genetics
    Chemical Substances RNA, Messenger
    Language English
    Publishing date 2023-02-06
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14305
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
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  3. Article ; Online: Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene

    Giulia Menara / Nathalie Lefort / Corinne Antignac / Géraldine Mollet

    Stem Cell Research, Vol 46, Iss , Pp 101878- (2020)

    2020  

    Abstract: Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood ... ...

    Abstract Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in the European population. The PBMCs were reprogrammed by non-integrative viral transduction of the Yamanaka’s factors. The resulting iPSCs display normal karyotype, express pluripotency hallmarks and are capable of multilineage differentiation, offering a useful tool to study pathological mechanisms of SRNS and perform drug testing.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-07-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
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  4. Article ; Online: VNtyper enables accurate alignment-free genotyping of

    Saei, Hassan / Morinière, Vincent / Heidet, Laurence / Gribouval, Olivier / Lebbah, Said / Tores, Frederic / Mautret-Godefroy, Manon / Knebelmann, Bertrand / Burtey, Stéphane / Vuiblet, Vincent / Antignac, Corinne / Nitschké, Patrick / Dorval, Guillaume

    iScience

    2023  Volume 26, Issue 7, Page(s) 107171

    Abstract: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease- ...

    Abstract The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease-
    Language English
    Publishing date 2023-06-17
    Publishing country United States
    Document type Journal Article
    ISSN 2589-0042
    ISSN (online) 2589-0042
    DOI 10.1016/j.isci.2023.107171
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: APOL1 risk genotype in Europe: Data in patients with focal segmental glomerulosclerosis and after renal transplantation

    Servais, Aude / Gribouval, Olivier / Gaillard, François / Antignac, Corinne

    Nephrologie & therapeutique

    2019  Volume 15 Suppl 1, Page(s) S85–S89

    Abstract: Apolipoprotein L1 (APOL1) risk variants are strongly associated with sporadic focal segmental glomerulosclerosis in populations with African ancestry. We determined the frequency of G1/G2 variants in patients with steroid-resistant nephrotic syndrome/ ... ...

    Abstract Apolipoprotein L1 (APOL1) risk variants are strongly associated with sporadic focal segmental glomerulosclerosis in populations with African ancestry. We determined the frequency of G1/G2 variants in patients with steroid-resistant nephrotic syndrome/focal segmental glomerulosclerosis with African or French West Indies origin in France and its relationships with other steroid-resistant nephrotic syndrome genes. In a cohort of 152 patients (139 families), the APOL1 risk variants were genotyped: the two risk allele (high risk) genotype was found in 43.1% of subjects compared to 18.9% in a control population (P < 0.0001). Compared to patients in the low risk group, patients in the high-risk group were more likely to originate from French West Indies than from Africa. APOL1 high-risk genotype was more frequent in young adult patients, but it was also found in children and it was associated with a bad renal prognosis. APOL1 high-risk genotype was usually not associated with other causative mutation in known monogenic steroid-resistant nephrotic syndrome genes and families in which multiple individuals have focal segmental glomerulosclerosis may have APOL1-associated disease. After renal transplantation, recipients of deceased-donor kidney transplantation from individuals with recent African ancestry possessing two APOL1 high-risk variants have slightly shorter allograft survival. Effects of APOL1 are independent of other traditional risk factors. Recently it was shown that black living kidney donors homozygous for APOL1 high-risk alleles have significantly lower glomerular filtration rate and increased risk of end-stage renal disease after donation. However, APOL1 genotype may not summarize by itself the totality of this risk. We showed that living kidney donors of African ancestry in France with low-risk APOL1 genotype have lower postdonation eGFR increase and lower baseline kidney volume compared to Caucasian donors.
    Language English
    Publishing date 2019-04-10
    Publishing country France
    Document type Journal Article
    ZDB-ID 2229575-6
    ISSN 1872-9177 ; 1769-7255
    ISSN (online) 1872-9177
    ISSN 1769-7255
    DOI 10.1016/j.nephro.2019.02.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6298: Show issues Location:
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  6. Article ; Online: Atypical severe early-onset nephrotic syndrome: Answers.

    Berthaud, Romain / Heidet, Laurence / Oualha, Mehdi / Brat, Roselyne / Talmud, Déborah / Garaix, Florentine / Rabant, Marion / Frémeaux-Bacchi, Véronique / Antignac, Corinne / Boyer, Olivia / Dorval, Guillaume

    Pediatric nephrology (Berlin, Germany)

    2022  Volume 37, Issue 11, Page(s) 2637–2642

    MeSH term(s) Denys-Drash Syndrome ; Humans ; Mutation ; Nephrotic Syndrome/diagnosis ; WT1 Proteins/genetics
    Chemical Substances WT1 Proteins
    Language English
    Publishing date 2022-05-04
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-022-05537-x
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    Zs.A 2196: Show issues Location:
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  7. Article ; Online: Atypical severe early-onset nephrotic syndrome: Questions.

    Berthaud, Romain / Heidet, Laurence / Oualha, Mehdi / Brat, Roselyne / Talmud, Déborah / Garaix, Florentine / Rabant, Marion / Frémeaux-Bacchi, Véronique / Antignac, Corinne / Boyer, Olivia / Dorval, Guillaume

    Pediatric nephrology (Berlin, Germany)

    2022  Volume 37, Issue 11, Page(s) 2635–2636

    MeSH term(s) Humans ; Kidney ; Nephrotic Syndrome/diagnosis ; Proteinuria
    Language English
    Publishing date 2022-05-04
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-022-05521-5
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2196: Show issues Location:
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  8. Article ; Online: VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

    Hassan Saei / Vincent Morinière / Laurence Heidet / Olivier Gribouval / Said Lebbah / Frederic Tores / Manon Mautret-Godefroy / Bertrand Knebelmann / Stéphane Burtey / Vincent Vuiblet / Corinne Antignac / Patrick Nitschké / Guillaume Dorval

    iScience, Vol 26, Iss 7, Pp 107171- (2023)

    2023  

    Abstract: Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific ... ...

    Abstract Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific frameshift variants in the coding VNTR of the MUC1 gene. Calling variants from VNTR using short-read sequencing (SRS) is challenging due to poor read mappability. We developed a computational pipeline, VNtyper, for reliable detection of MUC1 VNTR pathogenic variants and demonstrated its clinical utility in two distinct cohorts: (1) a historical cohort including 108 families with ADTKD and (2) a replication naive cohort comprising 2,910 patients previously tested on a panel of genes involved in monogenic renal diseases. In the historical cohort all cases known to carry pathogenic MUC1 variants were re-identified, and a new 25bp-frameshift insertion in an additional mislaid family was detected. In the replication cohort, we discovered and validated 30 new patients.
    Keywords Genetics ; Genomics ; Techniques in genetics ; Genotyping ; Science ; Q
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
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  9. Article ; Online: A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.

    Kuzmuk, Valeryia / Pranke, Iwona / Rollason, Ruth / Butler, Matthew / Ding, Wen Y / Beesley, Matthew / Waters, Aoife M / Coward, Richard J / Sessions, Richard / Tuffin, Jack / Foster, Rebecca R / Mollet, Géraldine / Antignac, Corinne / Edelman, Aleksander / Welsh, Gavin I / Saleem, Moin A

    Kidney international

    2023  Volume 105, Issue 4, Page(s) 744–758

    Abstract: Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable ... ...

    Abstract Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure. The most frequent podocin gene mutation in European children is R138Q, causing retention of the misfolded protein in the endoplasmic reticulum. Here, we provide evidence that podocin R138Q (but not wild-type podocin) complexes with the intermediate filament protein keratin 8 (K8) thereby preventing its correct trafficking to the plasma membrane. We have also identified a small molecule (c407), a compound that corrects the Cystic Fibrosis Transmembrane Conductance Regulator protein defect, that interrupts this complex and rescues mutant protein mistrafficking. This results in both the correct localization of podocin at the plasma membrane and functional rescue in both human patient R138Q mutant podocyte cell lines, and in a mouse inducible knock-in model of the R138Q mutation. Importantly, complete rescue of proteinuria and histological changes was seen when c407 was administered both via osmotic minipumps or delivered orally prior to induction of disease or crucially via osmotic minipump two weeks after disease induction. Thus, our data constitute a therapeutic option for patients with NS bearing a podocin mutation, with implications for other misfolding protein disorders. Further studies are necessary to confirm our findings.
    MeSH term(s) Animals ; Child ; Humans ; Mice ; Intracellular Signaling Peptides and Proteins/genetics ; Keratin-8/genetics ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Molecular Chaperones/genetics ; Mutation ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology
    Chemical Substances Intracellular Signaling Peptides and Proteins ; Keratin-8 ; Membrane Proteins ; Molecular Chaperones ; NPHS2 protein ; KRT8 protein, human
    Language English
    Publishing date 2023-11-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2023.11.006
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 797: Show issues Location:
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  10. Article: Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic syndrome.

    Antignac, Corinne

    The Journal of clinical investigation

    2002  Volume 109, Issue 4, Page(s) 447–449

    MeSH term(s) Animals ; Disease Models, Animal ; Drug Resistance ; Humans ; Intracellular Signaling Peptides and Proteins ; Membrane Proteins/genetics ; Mice ; Models, Genetic ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/etiology ; Nephrotic Syndrome/genetics ; Rats ; Rats, Mutant Strains ; Steroids/pharmacology
    Chemical Substances Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; NPHS2 protein ; Steroids
    Language English
    Publishing date 2002-02
    Publishing country United States
    Document type Comment ; Journal Article ; Review
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI15094
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