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View article: Supplementary Figure S6 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S6 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 193 KB, MutL� structure and the effects of substitutions on stability. Cartoon representation of the N- (top) and C-terminal (bottom) domains of MutL�; for better visibility, both domains are rotated against each other. MLH1 is …
View article: Supplementary Figure S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 41 KB, Calibration data of the hMLH1 qPCR. Serial dilutions of a plasmid vector containing the MLH1 cDNA were produced, and aliquots of these dilutions were subject to quantitative PCR for MLH1 as detailed above. Cq values were …
View article: Supplementary Tabe S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Tabe S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 167 KB, This table contains the source information underlying Table 1 and Figure 2 of the main manuscript.
View article: Supplementary Figure S4 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S4 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 56 KB, Microsatellite stability in cultured HEK293 cells. HEK293 and HEK293T cells, each derived from a previously singularized clone, were singularized in 96-well plates. DNA was extracted from colonies after 14 days by resuspe…
View article: Supplementary Figure S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 75 KB, Proteolytic and thermal stability of MLH1 variants. A. Pulse-chase kinetics of MLH1 variants. MLH1 was co-expressed with PMS2 in vitro using pcDNA3-MLH1 and pSG5-PMS2 vectors in the presence of 35S-methionine (EasyTag Met…
View article: Supplementary Figure S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 67 KB, MLH1 mRNA and protein levels after transfection (assay validation). A. HEK293T cells were transiently co-transfected with increasing amount of MLH1-PMS2 expression vectors (1-10 �g). Cells were harvested after 48 h and to…
View article: Supplementary Figure S7 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S7 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 153 KB, MutL� structure and the effects of substitutions on repair. The MutL� structural model is shown as described in Supplementary Figure S6. The location of all residues whose substitutions have been investigated in this stu…
View article: Supplementary Table S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Table S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 100 KB, Statistical analysis of expression
View article: Data from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Data from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
Purpose: Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality o…
View article: Supplementary Figure S5 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S5 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 81 KB, MAPP-MMR evaluation of the investigated MLH1 variants. MAPP-MMR (Multivariate Analysis of Protein Polymorphism-Mismatch Repair) values were calculated for all variants investigated in this study. Their individual dots in …
View article: Supplementary Figure S5 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S5 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 81 KB, MAPP-MMR evaluation of the investigated MLH1 variants. MAPP-MMR (Multivariate Analysis of Protein Polymorphism-Mismatch Repair) values were calculated for all variants investigated in this study. Their individual dots in …
View article: Data from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Data from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
Purpose: Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality o…
View article: Supplementary Table S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Table S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 120 KB, Clinical evaluation of additional MLH1 variants indicated in gray in Figure 4
View article: Supplementary Figure S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 67 KB, MLH1 mRNA and protein levels after transfection (assay validation). A. HEK293T cells were transiently co-transfected with increasing amount of MLH1-PMS2 expression vectors (1-10 �g). Cells were harvested after 48 h and to…
View article: Supplementary Table S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Table S2 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 120 KB, Clinical evaluation of additional MLH1 variants indicated in gray in Figure 4
View article: Supplementary Table S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Table S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 100 KB, Statistical analysis of expression
View article: Supplementary Tabe S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Tabe S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 167 KB, This table contains the source information underlying Table 1 and Figure 2 of the main manuscript.
View article: Supplementary Figure S7 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S7 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 153 KB, MutL� structure and the effects of substitutions on repair. The MutL� structural model is shown as described in Supplementary Figure S6. The location of all residues whose substitutions have been investigated in this stu…
View article: Supplementary Figure S6 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S6 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 193 KB, MutL� structure and the effects of substitutions on stability. Cartoon representation of the N- (top) and C-terminal (bottom) domains of MutL�; for better visibility, both domains are rotated against each other. MLH1 is …
View article: Supplementary Figure S4 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S4 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 56 KB, Microsatellite stability in cultured HEK293 cells. HEK293 and HEK293T cells, each derived from a previously singularized clone, were singularized in 96-well plates. DNA was extracted from colonies after 14 days by resuspe…
View article: Supplementary Figure S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S3 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 75 KB, Proteolytic and thermal stability of MLH1 variants. A. Pulse-chase kinetics of MLH1 variants. MLH1 was co-expressed with PMS2 in vitro using pcDNA3-MLH1 and pSG5-PMS2 vectors in the presence of 35S-methionine (EasyTag Met…
View article: Supplementary Figure S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis
Supplementary Figure S1 from Expression Defect Size among Unclassified <i>MLH1</i> Variants Determines Pathogenicity in Lynch Syndrome Diagnosis Open
PDF file - 41 KB, Calibration data of the hMLH1 qPCR. Serial dilutions of a plasmid vector containing the MLH1 cDNA were produced, and aliquots of these dilutions were subject to quantitative PCR for MLH1 as detailed above. Cq values were …
View article: Standard Operating Procedures for an in vitro MMR assay
Standard Operating Procedures for an in vitro MMR assay Open
Standard Operating Procedures (SOP) for nuclear proteins extraction, HEK293T cells transfection, whole cell protein extraction, mismatched plasmid substrate generation and in vitro MMR assay. Protocols were optimized and validated in Gonzá…
View article: DNA mismatch repair activity of MutLα is regulated by CK2‐dependent phosphorylation of MLH1 (S477)
DNA mismatch repair activity of MutLα is regulated by CK2‐dependent phosphorylation of MLH1 (S477) Open
MutLα, a heterodimer consisting of MLH1 and PMS2, is a key player of DNA mismatch repair (MMR), yet little is known about its regulation. In this study, we used mass spectrometry to identify phosphorylated residues within MLH1 and PMS2. Th…
View article: Evaluation of <i>MLH1</i> variants of unclear significance
Evaluation of <i>MLH1</i> variants of unclear significance Open
Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South Ameri…
View article: Phosphorylation‐dependent signaling controls degradation of DNA mismatch repair protein PMS2
Phosphorylation‐dependent signaling controls degradation of DNA mismatch repair protein PMS2 Open
MutLα, a heterodimer consisting of MLH1 and PMS2, plays an important role in DNA mismatch repair and has been shown to be additionally involved in several other important cellular mechanisms. Previous work indicated that AKT could modulate…