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 157 free, full-text research articles on human participants. First 3 results:

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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Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
 

Author(s): Vanessa A van Rahden, Erika Fernandez-Vizarra, Malik Alawi, Kristina Brand, Florence Fellmann, Denise Horn, Massimo Zeviani, Kerstin Kutsche

Journal: Am. J. Hum. Genet.. 2015 Apr;96(4):640-50.

 

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous ...

Last Updated: 4 Apr 2015

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A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression.
 

Author(s): Soheil S Dadras, Richard J Lin, Gita Razavi, Akinori Kawakami, Jinyan Du, Erez Feige, Daniel A Milner, Massimo F Loda, Scott R Granter, Michael Detmar, Hans R Widlund, Martin A Horstmann, David E Fisher

Journal: Am. J. Pathol.. 2015 Jan;185(1):252-65.

 

Microphthalmia-associated transcription factor (MITF) acts via pigment epithelium-derived factor (PEDF), an antiangiogenic protein, to regulate retinal pigment epithelium migration. PEDF expression and/or regulation during melanoma development have not been investigated previously. ...

Last Updated: 22 Dec 2014

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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 4 free, full-text review articles on human participants. First 3 results:

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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Anophthalmia and microphthalmia.
 

Author(s): Amit S Verma, David R Fitzpatrick

Journal:

 

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution ...

Last Updated: 19 Feb 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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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