Microphthalmia

Common Name(s)

Microphthalmia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microphthalmia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Microphthalmia" returned 165 free, full-text research articles on human participants. First 3 results:

Meis1 coordinates a network of genes implicated in eye development and microphthalmia.
 

Author(s): Séverine Marcos, Monica González-Lázaro, Leonardo Beccari, Laura Carramolino, Maria Jesus Martin-Bermejo, Oana Amarie, Daniel Mateos-San Martín, Carlos Torroja, Ozren Bogdanović, Roisin Doohan, Oliver Puk, Martin Hrabě de Angelis, Jochen Graw, Jose Luis Gomez-Skarmeta, Fernando Casares, Miguel Torres, Paola Bovolenta

Journal: Development. 2015 Sep;142(17):3009-20.

 

Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degree. Sporadic and hereditary microphthalmos have been associated with heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or ...

Last Updated: 2 Sep 2015

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Melanogenesis-inducing effect of cirsimaritin through increases in microphthalmia-associated transcription factor and tyrosinase expression.
 

Author(s): Hyo Jung Kim, Il Soon Kim, Yin Dong, Ik-Soo Lee, Jin Sook Kim, Jong-Sang Kim, Je-Tae Woo, Byung-Yoon Cha

Journal:

 

The melanin-inducing properties of cirsimaritin were investigated in murine B16F10 cells. Cirsimaritin is an active flavone with methoxy groups, which is isolated from the branches of Lithocarpus dealbatus. Tyrosinase activity and melanin content in murine B16F10 melanoma cells were ...

Last Updated: 23 Apr 2015

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microRNA-155, induced by interleukin-1ß, represses the expression of microphthalmia-associated transcription factor (MITF-M) in melanoma cells.
 

Author(s): Nathalie Arts, Stefania Cané, Marc Hennequart, Juliette Lamy, Guido Bommer, Benoît Van den Eynde, Etienne De Plaen

Journal:

 

Loss of expression of surface antigens represents a significant problem for cancer immunotherapy. Microphthalmia-associated transcription factor (MITF-M) regulates melanocyte fate by driving expression of many differentiation genes, whose protein products can be recognized by cytolytic ...

Last Updated: 9 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Microphthalmia" returned 6 free, full-text review articles on human participants. First 3 results:

Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy.
 

Author(s): Claudia Wellbrock, Imanol Arozarena

Journal: Pigment Cell Melanoma Res. 2015 Jul;28(4):390-406.

 

Malignant melanoma is a neoplasm of melanocytes, and the microphthalmia-associated transcription factor (MITF) is essential for the existence of melanocytes. MITF's relevance for this cell lineage is maintained in melanoma, where it is an important regulator of survival and balances ...

Last Updated: 15 Jun 2015

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The roles of microphthalmia-associated transcription factor and pigmentation in melanoma.
 

Author(s): Jennifer J Hsiao, David E Fisher

Journal: Arch. Biochem. Biophys.. 2014 Dec;563():28-34.

 

MITF and pigmentation play important roles in both normal melanocyte and transformed melanoma cell biology. MITF is regulated by many pathways and it also regulates many targets, some of which are still being discovered and functionally validated. MITF is involved in a wide range ...

Last Updated: 5 Nov 2014

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The discovery of the microphthalmia locus and its gene, Mitf.
 

Author(s): Heinz Arnheiter

Journal: Pigment Cell Melanoma Res. 2010 Dec;23(6):729-35.

 

The history of the discovery of the microphthalmia locus and its gene, now called Mitf, is a testament to the triumph of serendipity. Although the first microphthalmia mutation was discovered among the descendants of a mouse that was irradiated for the purpose of mutagenesis, the ...

Last Updated: 26 Oct 2010

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Selected X-Linked Disorders: Aicardi Syndrome
 

Status: Recruiting

Condition Summary: Aicardi Syndrome; Brain Disorders

 

Last Updated: 31 Oct 2014

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