Presentation is loading. Please wait.

Presentation is loading. Please wait.

AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome  Marjorie J. Lindhurst, Ji-an Wang, Hadley.

Published bySatu Saarnio Modified over 5 years ago

Similar presentations

Presentation on theme: "AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome  Marjorie J. Lindhurst, Ji-an Wang, Hadley."— Presentation transcript:

1 AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome  Marjorie J. Lindhurst, Ji-an Wang, Hadley M. Bloomhardt, Alison M. Witkowski, Larry N. Singh, David P. Bick, Michael J. Gambello, Cynthia M. Powell, Chyi-Chia Richard Lee, Thomas N. Darling, Leslie G. Biesecker  Journal of Investigative Dermatology  Volume 134, Issue 2, Pages (February 2014) DOI: /jid Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Representative examples of an epidermal nevi (EN) and cerebriform connective tissue nevi (CCTN). Panel a shows the rough surface of the linear EN on the infraaxillary vault in patient 101. Hematoxylin and eosin stain (b, scale bar=100 μm; c, scale bar=50 μm) of a skin biopsy from the EN in panel a. The lesion is characterized by papillomatosis, mild hyperkeratosis, and acanthosis. Panel d shows the CCTN encompassing the hallux of patient 75. Hematoxylin and eosin stain of skin obtained after amputation of the hallux (e, scale bar=100 μm; f, scale bar=50 μm). Note the extensive dense collagen matrix, compression of the papillary dermis, and the smooth surface of the lesion. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Percentage of AKT1 c.49G>A, p.Glu17Lys mutation in epidermal and dermal cells and tissue. One keratinocyte culture (left panel) was established from each epidermal sample. Mutation percentages are indicated by the blue circles. Multiple fibroblast cultures (right panel) were established from most pieces of dermal tissue. The mutation percentage for each fibroblast culture is indicated by a green circle. The mean mutation percentage for the fibroblast cultures from each sample is indicated by a green square and the mutation percentage in residual dermal tissue post culture is indicated by a yellow triangle. Samples are ordered from lowest to highest mutation value (keratinocytes) or mean mutation value (fibroblasts) and are color coded as follows: epidermal nevi, red; cerebriform connective tissue nevi, black; unaffected/unknown, light blue. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome  Marjorie J. Lindhurst, Ji-an Wang, Hadley."

Similar presentations

Targeted Disruption of the Lama3 Gene in Adult Mice Is Sufficient to Induce Skin Inflammation and Fibrosis  Monika Pesch, Sabrina König, Monique Aumailley 

Targeted Disruption of the Lama3 Gene in Adult Mice Is Sufficient to Induce Skin Inflammation and Fibrosis  Monika Pesch, Sabrina König, Monique Aumailley 
Psoriatic Inflammation Facilitates the Onset of Arthritis in a Mouse Model  Mayuko Yamamoto, Kimiko Nakajima, Mikiro Takaishi, Shun Kitaba, Yasuhiro Magata,

Psoriatic Inflammation Facilitates the Onset of Arthritis in a Mouse Model  Mayuko Yamamoto, Kimiko Nakajima, Mikiro Takaishi, Shun Kitaba, Yasuhiro Magata,
Emily J. Hamburg, Radhika P. Atit  Journal of Investigative Dermatology 

Emily J. Hamburg, Radhika P. Atit  Journal of Investigative Dermatology 
Unprocessed Interleukin-36α Regulates Psoriasis-Like Skin Inflammation in Cooperation With Interleukin-1  Katelynn A. Milora, Hangfei Fu, Ornella Dubaz,

Unprocessed Interleukin-36α Regulates Psoriasis-Like Skin Inflammation in Cooperation With Interleukin-1  Katelynn A. Milora, Hangfei Fu, Ornella Dubaz,
Fibroblast Activation Protein: Differential Expression and Serine Protease Activity in Reactive Stromal Fibroblasts of Melanocytic Skin Tumors  Margit.

Fibroblast Activation Protein: Differential Expression and Serine Protease Activity in Reactive Stromal Fibroblasts of Melanocytic Skin Tumors  Margit.
Gregory D. Rak, Lisa C. Osborne, Mark C. Siracusa, Brian S

Gregory D. Rak, Lisa C. Osborne, Mark C. Siracusa, Brian S
The Possible Interaction between Receptor Activator of Nuclear Factor Kappa-B Ligand Expressed by Extramammary Paget Cells and its Ligand on Dermal Macrophages 

The Possible Interaction between Receptor Activator of Nuclear Factor Kappa-B Ligand Expressed by Extramammary Paget Cells and its Ligand on Dermal Macrophages 
Proteome Profiling of Human Cutaneous Leishmaniasis Lesion

Proteome Profiling of Human Cutaneous Leishmaniasis Lesion
Volume 1, Issue 2, Pages (March 2015)

Volume 1, Issue 2, Pages (March 2015)
Adam Giangreco, Stephen J

Adam Giangreco, Stephen J
Enhancing Structural Support of the Dermal Microenvironment Activates Fibroblasts, Endothelial Cells, and Keratinocytes in Aged Human Skin In Vivo  Taihao.

Enhancing Structural Support of the Dermal Microenvironment Activates Fibroblasts, Endothelial Cells, and Keratinocytes in Aged Human Skin In Vivo  Taihao.
Molecular Profiling to Diagnose a Case of Atypical Dermatomyositis

Molecular Profiling to Diagnose a Case of Atypical Dermatomyositis
Jasper G. van den Boorn, Debby Konijnenberg, Trees A. M. Dellemijn, J

Jasper G. van den Boorn, Debby Konijnenberg, Trees A. M. Dellemijn, J
Automated Delineation of Dermal–Epidermal Junction in Reflectance Confocal Microscopy Image Stacks of Human Skin  Sila Kurugol, Kivanc Kose, Brian Park,

Automated Delineation of Dermal–Epidermal Junction in Reflectance Confocal Microscopy Image Stacks of Human Skin  Sila Kurugol, Kivanc Kose, Brian Park,
Calcium Ion Gradients and Dynamics in Cultured Skin Slices of Rat Hindpaw in Response to Stimulation with ATP  Moe Tsutsumi, Sumiko Denda, Kaori Inoue,

Calcium Ion Gradients and Dynamics in Cultured Skin Slices of Rat Hindpaw in Response to Stimulation with ATP  Moe Tsutsumi, Sumiko Denda, Kaori Inoue,
Large-Scale Electron Microscopy Maps of Patient Skin and Mucosa Provide Insight into Pathogenesis of Blistering Diseases  Ena Sokol, Duco Kramer, Gilles.

Large-Scale Electron Microscopy Maps of Patient Skin and Mucosa Provide Insight into Pathogenesis of Blistering Diseases  Ena Sokol, Duco Kramer, Gilles.
Differential Expression of Matrix Metalloproteinases During Impaired Wound Healing of the Diabetes Mouse  Steven J. Wall, Dr, Damon Bevan, David W. Thomas,

Differential Expression of Matrix Metalloproteinases During Impaired Wound Healing of the Diabetes Mouse  Steven J. Wall, Dr, Damon Bevan, David W. Thomas,
Spontaneous Cell Sorting of Fibroblasts and Keratinocytes Creates an Organotypic Human Skin Equivalent  C. Kathy Wang, Charlotte F. Nelson, Alice M. Brinkman,

Spontaneous Cell Sorting of Fibroblasts and Keratinocytes Creates an Organotypic Human Skin Equivalent  C. Kathy Wang, Charlotte F. Nelson, Alice M. Brinkman,
CCN1, a Pro-Inflammatory Factor, Aggravates Psoriasis Skin Lesions by Promoting Keratinocyte Activation  Yue Sun, Jie Zhang, Zhou Zhou, Pinru Wu, Rongfen.

CCN1, a Pro-Inflammatory Factor, Aggravates Psoriasis Skin Lesions by Promoting Keratinocyte Activation  Yue Sun, Jie Zhang, Zhou Zhou, Pinru Wu, Rongfen.
Epithelial Cells Promote Fibroblast Activation via IL-1α in Systemic Sclerosis  Nima Aden, Anna Nuttall, Xu Shiwen, Patricia de Winter, Andrew Leask, Carol.

Epithelial Cells Promote Fibroblast Activation via IL-1α in Systemic Sclerosis  Nima Aden, Anna Nuttall, Xu Shiwen, Patricia de Winter, Andrew Leask, Carol.

Similar presentations

Ads by Google