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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
View on Elsevier
Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome
TLDR
Cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference χ2; 1 df; P = 0.43), and the type or site of STK 11/L KB1 mutation did not significantly influence cancer risk.
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
TLDR
This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
View on Nature
WT1 mutants reveal SRPK1 to be a downstream angiogenesis target by altering VEGF splicing.
View on PubMed
Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location
The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map…
View on Springer
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
TLDR
The current data suggest that human laminin beta2 deficiency is consistently and specifically associated with this particular oculorenal syndrome.
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Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
TLDR
In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal‐predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation.
View on Wiley
The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin.
TLDR
The aim of the investigation was to examine the correlation between the length of the CAG repeat and impaired sperm production in an infertile Caucasoid patient sample of German ethnic origin and found no statistically significant relationship.
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BASP1 Is a Transcriptional Cosuppressor for the Wilms' Tumor Suppressor Protein WT1
TLDR
BASP1 is a WT1-associated factor that can regulate WT1 transcriptional activity and is presented as direct evidence that this requires a transcriptional cosuppressor.
View on ASMUSA
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
TLDR
Findings provide strong evidence that MLH 1 promoter methylation in normal body cells mimics HNPCC and constitutes a pathogenic pre-lesion in MLH1.
View on Nature
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