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

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
 

Author(s): Lucia Margari, Annalisa Colonna, Francesco Craig, Mattia Gentile, Giustina Giannella, Anna Linda Lamanna, Anna Rosi Legrottaglie

Journal:

 

Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary ...

Last Updated: 12 Sep 2014

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Regulatory and functional connection of microphthalmia-associated transcription factor and anti-metastatic pigment epithelium derived factor in melanoma.
 

Author(s): Asunción Fernández-Barral, Jose Luis Orgaz, Pablo Baquero, Zaheer Ali, Alberto Moreno, María Tiana, Valentí Gómez, Erica Riveiro-Falkenbach, Carmen Cañadas, Sandra Zazo, Corine Bertolotto, Irwin Davidson, Jose Luis Rodríguez-Peralto, Ignacio Palmero, Federico Rojo, Lasse Dahl Jensen, Luis del Peso, Benilde Jiménez

Journal: Neoplasia. 2014 Jun;16(6):529-42.

 

Pigment epithelium-derived factor (PEDF), a member of the serine protease inhibitor superfamily, has potent anti-metastatic effects in cutaneous melanoma through its direct actions on endothelial and melanoma cells. Here we show that PEDF expression positively correlates with microphthalmia-associated ...

Last Updated: 1 Aug 2014

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MicroRNA-218 inhibits melanogenesis by directly suppressing microphthalmia-associated transcription factor expression.
 

Author(s): Jia Guo, Jin-fang Zhang, Wei-mao Wang, Florence Wing-ki Cheung, Ying-fei Lu, Chi-fai Ng, Hsiang-fu Kung, Wing-keung Liu

Journal: RNA Biol. 2014 ;11(6):732-41.

 

The microphthalmia-associated transcription factor (MITF) is a pivotal regulator of melanogenic enzymes for melanogenesis, and its expression is modulated by many transcriptional factors at the transcriptional level or post-transcriptional level through microRNAs (miRNAs). Although ...

Last Updated: 1 Aug 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 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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Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.
 

Author(s): S Shibahara, K Takeda, K Yasumoto, T Udono, K Watanabe, H Saito, K Takahashi

Journal: J. Investig. Dermatol. Symp. Proc.. 2001 Nov;6(1):99-104.

 

Microphthalmia-associated transcription factor (MITF) regulates the differentiation and development of melanocytes and retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the MITF gene ...

Last Updated: 14 Dec 2001

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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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