Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
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Gadd45g is essential for primary sex determination, male fertility and testis developmentZHX proteins regulate podocyte gene expression during the development of nephrotic syndromePositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleSingle-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.WT1 interacts with the splicing factor U2AF65 in an isoform-dependent manner and can be incorporated into spliceosomesMale sex determination: insights into molecular mechanismsFeminizing chicks: a model for avian sex determination based on titration of Hint enzyme activity and the predicted structure of an Asw-Hint heterodimerOpportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraGenetic causes of focal segmental glomerulosclerosis: implications for clinical practiceMammalian sex determination—insights from humans and mice.Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modificationsWilms tumor protein recognizes 5-carboxylcytosine within a specific DNA sequenceIdentification of WTAP, a novel Wilms' tumour 1-associating proteinA novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndromePodocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndromePar4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndromeA Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.A new role for wilms tumor protein 1: differential activities of + KTS and -KTS variants to regulate LHβ transcriptionThe Wilms' tumor 1 (WT1) gene (+KTS isoform) functions with a CTE to enhance translation from an unspliced RNA with a retained intron.TassDB2 - A comprehensive database of subtle alternative splicing events.Disentangling genetic vs. environmental causes of sex determination in the common frog, Rana temporariaWT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.The malformed kidney: disruption of glomerular and tubular development.Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.Cryptic splice sites and split genes.Sex determination and the Y chromosome.Presence of WT1, the Wilm's tumor suppressor gene product, in nuclear poly(A)(+) ribonucleoprotein.Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1.The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.The predominant WT1 isoform (+KTS) encodes a DNA-binding protein targeting the planar cell polarity gene Scribble in renal podocytes.Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.The glomerulus--a view from the outside--the podocyte.The Wilms tumor suppressor WT1 directs stage-specific quiescence and differentiation of human hematopoietic progenitor cells.Requirement of WT1 for gonad and adrenal development: insights from transgenic animals.Regulation of taurine transporter gene (TauT) by WT1.
P2860
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P2860
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@ast
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@en
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@nl
type
label
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@ast
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@en
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@nl
prefLabel
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@ast
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@en
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@nl
P2093
P356
P1433
P1476
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
@en
P2093
Grünfeld JP
McElreavey K
Souleyreau-Therville N
P2860
P2888
P304
P356
10.1038/NG1297-467
P407
P577
1997-12-01T00:00:00Z
P6179
1013162213