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
A clinicopathological and immunohistochemical profile of primary extra mammary paget & #39;s Disease in skin of colour: A case series
Subhra Dhar, Divya Gupta, Aditi Chakraborty, Rajib Malakar, Sandipan DharIndian Journal of Dermatology 2023 68(4):488-488
Extramammary Paget's disease is an intraepithelial neoplasm, usually found in areas rich in apocrine gland concentration. The clinical features, histopathology, immunohistochemistry and management details of five patients (F = 3, M = 2) have been described here. While a well-defined persistent plaque with crusting and erosion was the most common presentation, hyperpigmentation, hypopigmentation and depigmentation were also observed in two patients. Characteristic Paget&...
Source: Indian Journal of Dermatology - August 31, 2023 Category: Dermatology Authors: Subhra Dhar Divya Gupta Aditi Chakraborty Rajib Malakar Sandipan Dhar Source Type: research
Immune dysregulation and inflammation causing hypopigmentation in post kala-azar dermal leishmaniasis: partners in crime?
Trends Parasitol. 2023 Aug 15:S1471-4922(23)00171-X. doi: 10.1016/j.pt.2023.07.005. Online ahead of print.ABSTRACTPost kala-azar dermal leishmaniasis (PKDL), a heterogeneous dermal sequela of visceral leishmaniasis (VL), is challenging in terms of its etiopathogenesis. Hypopigmentation is a consistent clinical feature in PKDL, but mechanisms contributing to the loss of melanocytes remains poorly defined. Like other hypopigmentary dermatoses - for example, vitiligo, psoriasis, and leprosy - the destruction of melanocytes is likely a multifactorial phenomenon, key players being immune dysregulation and inflammation. This rev...
Source: Trends in Parasitology - August 16, 2023 Category: Parasitology Authors: Ritika Sengupta Madhurima Roy Nidhi S Dey Paul M Kaye Mitali Chatterjee Source Type: research
Immune dysregulation and inflammation causing hypopigmentation in post kala-azar dermal leishmaniasis: partners in crime?
Trends Parasitol. 2023 Aug 15:S1471-4922(23)00171-X. doi: 10.1016/j.pt.2023.07.005. Online ahead of print.ABSTRACTPost kala-azar dermal leishmaniasis (PKDL), a heterogeneous dermal sequela of visceral leishmaniasis (VL), is challenging in terms of its etiopathogenesis. Hypopigmentation is a consistent clinical feature in PKDL, but mechanisms contributing to the loss of melanocytes remains poorly defined. Like other hypopigmentary dermatoses - for example, vitiligo, psoriasis, and leprosy - the destruction of melanocytes is likely a multifactorial phenomenon, key players being immune dysregulation and inflammation. This rev...
Source: Trends in Parasitology - August 16, 2023 Category: Parasitology Authors: Ritika Sengupta Madhurima Roy Nidhi S Dey Paul M Kaye Mitali Chatterjee Source Type: research
Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy
CONCLUSION: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.PMID:37528764 | DOI:10.1080/13816810.2023.2237573 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 2, 2023 Category: Opthalmology Authors: Hamad Alomairah Abdullah Ali Rabeah Altemaimi Talal Alabduljalil Source Type: research
Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor
Neuropediatrics DOI: 10.1055/a-2104-1614The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation, and survival. In its regulation, the GTPase-activating protein activity toward Rags1 complex has an inhibitory effect. Mutations in genes encoding this complex protein are among the most common abnormalities in focal epilepsies. Within these mutations, the mutations affecting the DEPDC5 gene have been associated with different autosomal dominantly inherited epilepsy types. Due to the limited data available on mTOR inhibitor therapy in nontuberous sclerosi...
Source: Neuropediatrics - July 30, 2023 Category: Neurology Authors: Hadzsiev, Kinga Hegyi, M árta Fogarasi, Andr ás Bod ó-Baltavári, Tímea Zsigmond, Anna Ma ász, Anita Szab ó, András Till, Ágnes Tags: Short Communications Source Type: research
Genes, Vol. 14, Pages 1458: Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice
teinsson
Mutations in the mouse microphthalmia-associated transcription factor (Mitf) gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness. For instance, an association has been established between loss-of-function mutations in the mouse Mitf gene and a variety of human retinal diseases, including Waardenburg type 2 and Tietz syndromes. Although there is evidence showing that mice with the homozygous Mitfmi mutation manifest microphthalmia and osteopetrosis, there are limited or no data on the effects of the heterozygous c...
Source: Genes - July 17, 2023 Category: Genetics & Stem Cells Authors: Garc ía-Llorca Ólafsson Sigurdsson Eysteinsson Tags: Article Source Type: research
Skin repigmentation after phenol-croton oil chemical peel
To the Editor: The history of chemical peels tells that Antoinette La Gasse, the daughter of a French physician during World War I, was one of the first phenol-croton oil operators in the United States. La Gasse, who was African American, was thought to have experimented with the formulas on herself for skin lightening,1 using a 47% phenol and 0.22% croton oil formula.2 Chemical wounding may indeed cause hypopigmentation, particularly in patients with skin of color (SOC).3 This understanding has driven clinical practice away from the application of such treatments in SOC. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - July 15, 2023 Category: Dermatology Authors: Marcelo L. Paiva, Aline S. Justo, Bruna M. Lemes, Anna Claudia M.O. Capote, Mayra Buainain de Castro Maymone, Leandro C. Lipinski, Peter P. Rullan, Fl ávio Luís Beltrame, Helio A. Miot, Carlos G. Wambier Tags: Research letter Source Type: research
