Presentation is loading. Please wait.

Presentation is loading. Please wait.

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients  Maurice A.M. van Steensel, Valerie.

Published by Modified over 6 years ago

Similar presentations

Presentation on theme: "Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients  Maurice A.M. van Steensel, Valerie."— Presentation transcript:

1 Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients  Maurice A.M. van Steensel, Valerie L.R.M. Verstraeten, Jorge Frank, Nicole W.J. Kelleners-Smeets, Pamela Poblete-Gutiérrez, Dominique Marcus-Soekarman, Reno S. Bladergroen, Peter M. Steijlen, Michel van Geel  Journal of Investigative Dermatology  Volume 127, Issue 3, Pages (March 2007) DOI: /sj.jid Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 RT-PCR results from a fibrofolliculoma biopsy of patient MH63 with primers BHD9cF and BHD13cR2. Lane 1, mutant; lane 2, -RT control; lane 3, wild-type. The -RT control is negative, ruling out contamination with genomic DNA. Sizes of the PCR products are on the right and illustrations representing the products on the left. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Micrographs of the laser capture microdissection procedure. The fibrofolliculoma is colored magenta. The panel labeled “after” shows the situation after dissection of one tumor field, with the tumor tissue removed. Bar=1mm=2.5μm. (a) Sequence chromatogram of exon 11, obtained from the microdissected tumor cells of patient TQ27 (PCR and sequencing with primers BHD12F and BHD13cR). The 11bp deletion is clearly present in the heterozygous state. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Patient MC60. Typical distribution of numerous flesh-colored papules in the face. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 The typical histology of a fibrofolliculoma, with its anastomosing strands of epithelial cells. Bar=1mm=100μm. The sample was obtained from patient MC60. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients  Maurice A.M. van Steensel, Valerie."

Similar presentations

Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma  Tjinta.

Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma  Tjinta.
Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,
Valerie L. R. M. Verstraeten, Wolfgang Holnthoner, Maurice A. M

Valerie L. R. M. Verstraeten, Wolfgang Holnthoner, Maurice A. M
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
Marguerite Stas, Hugo Degreef  Journal of Investigative Dermatology 

Marguerite Stas, Hugo Degreef  Journal of Investigative Dermatology 
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
Irwin Freedberg: Physician-Scientist and Mentor

Irwin Freedberg: Physician-Scientist and Mentor
Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.

Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.
Volume 62, Issue 3, Pages (March 2015)

Volume 62, Issue 3, Pages (March 2015)
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.
Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability 

Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability 
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A
Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase.

Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase.
High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.

High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.
Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease  Stephen J. Meltzer, Manfred Wolter  Journal.

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease  Stephen J. Meltzer, Manfred Wolter  Journal.
Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 Gene  Peter M. Steijlen, Maurice A.M. van Steensel,

Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 Gene  Peter M. Steijlen, Maurice A.M. van Steensel,
Laurent Gouya  Journal of Investigative Dermatology 

Laurent Gouya  Journal of Investigative Dermatology 

Similar presentations

Ads by Google