Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
MITF E318K: A rare homozygous case with multiple primary melanoma
Pigment Cell Melanoma Res. 2023 Aug 27. doi: 10.1111/pcmr.13122. Online ahead of print.ABSTRACTMITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual. The case, a 32-year-old male, was diagnosed with his first of six primary melanomas at 26 years of age. Five melanomas were located on the back and one in the groin. Two were superficial spreading. Three arose from pre-existing naevi and one was a rare naevoid mel...
Source: Pigment Cell and Melanoma Research - August 28, 2023 Category: Cytology Authors: Courtney K Wallingford Ellie J Maas Antonia Howard Emily DeBortoli Deboshmita Bhanja Katie Lee Adam Mothershaw Kasturee Jagirdar Rod Willett Brigid Betz-Stablein Richard A Sturm H Peter Soyer Aideen M McInerney-Leo Source Type: research
MITF E318K: A rare homozygous case with multiple primary melanoma
Pigment Cell Melanoma Res. 2023 Aug 27. doi: 10.1111/pcmr.13122. Online ahead of print.ABSTRACTMITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual. The case, a 32-year-old male, was diagnosed with his first of six primary melanomas at 26 years of age. Five melanomas were located on the back and one in the groin. Two were superficial spreading. Three arose from pre-existing naevi and one was a rare naevoid mel...
Source: Pigment Cell and Melanoma Research - August 28, 2023 Category: Cytology Authors: Courtney K Wallingford Ellie J Maas Antonia Howard Emily DeBortoli Deboshmita Bhanja Katie Lee Adam Mothershaw Kasturee Jagirdar Rod Willett Brigid Betz-Stablein Richard A Sturm H Peter Soyer Aideen M McInerney-Leo Source Type: research
MITF E318K: A rare homozygous case with multiple primary melanoma
Pigment Cell Melanoma Res. 2023 Aug 27. doi: 10.1111/pcmr.13122. Online ahead of print.ABSTRACTMITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual. The case, a 32-year-old male, was diagnosed with his first of six primary melanomas at 26 years of age. Five melanomas were located on the back and one in the groin. Two were superficial spreading. Three arose from pre-existing naevi and one was a rare naevoid mel...
Source: Pigment Cell and Melanoma Research - August 28, 2023 Category: Cytology Authors: Courtney K Wallingford Ellie J Maas Antonia Howard Emily DeBortoli Deboshmita Bhanja Katie Lee Adam Mothershaw Kasturee Jagirdar Rod Willett Brigid Betz-Stablein Richard A Sturm H Peter Soyer Aideen M McInerney-Leo Source Type: research
Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care
Pigment Cell Melanoma Res. 2023 Aug 25. doi: 10.1111/pcmr.13116. Online ahead of print.ABSTRACTLeptomeningeal disease (LMD) remains a major challenge in the clinical management of metastatic melanoma patients. Outcomes for patient remain poor, and patients with LMD continue to be excluded from almost all clinical trials. However, recent trials have demonstrated the feasibility of conducting prospective clinical trials in these patients. Further, new insights into the pathophysiology of LMD are identifying rational new therapeutic strategies. Here we present recent advances in the understanding of, and treatment options for...
Source: Pigment Cell and Melanoma Research - August 25, 2023 Category: Cytology Authors: Inna Smalley Adrienne Boire Priscilla Brastianos Harriet M Kluger Eva Hernando-Monge Peter A Forsyth Kamran A Ahmed Keiran S M Smalley Sherise Ferguson Michael A Davies Isabella C Glitza Oliva Source Type: research
Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care
Pigment Cell Melanoma Res. 2023 Aug 25. doi: 10.1111/pcmr.13116. Online ahead of print.ABSTRACTLeptomeningeal disease (LMD) remains a major challenge in the clinical management of metastatic melanoma patients. Outcomes for patient remain poor, and patients with LMD continue to be excluded from almost all clinical trials. However, recent trials have demonstrated the feasibility of conducting prospective clinical trials in these patients. Further, new insights into the pathophysiology of LMD are identifying rational new therapeutic strategies. Here we present recent advances in the understanding of, and treatment options for...
Source: Pigment Cell and Melanoma Research - August 25, 2023 Category: Cytology Authors: Inna Smalley Adrienne Boire Priscilla Brastianos Harriet M Kluger Eva Hernando-Monge Peter A Forsyth Kamran A Ahmed Keiran S M Smalley Sherise Ferguson Michael A Davies Isabella C Glitza Oliva Source Type: research
Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care
Pigment Cell Melanoma Res. 2023 Aug 25. doi: 10.1111/pcmr.13116. Online ahead of print.ABSTRACTLeptomeningeal disease (LMD) remains a major challenge in the clinical management of metastatic melanoma patients. Outcomes for patient remain poor, and patients with LMD continue to be excluded from almost all clinical trials. However, recent trials have demonstrated the feasibility of conducting prospective clinical trials in these patients. Further, new insights into the pathophysiology of LMD are identifying rational new therapeutic strategies. Here we present recent advances in the understanding of, and treatment options for...
Source: Pigment Cell and Melanoma Research - August 25, 2023 Category: Cytology Authors: Inna Smalley Adrienne Boire Priscilla Brastianos Harriet M Kluger Eva Hernando-Monge Peter A Forsyth Kamran A Ahmed Keiran S M Smalley Sherise Ferguson Michael A Davies Isabella C Glitza Oliva Source Type: research
