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

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
 

Author(s): Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

Journal:

 

Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase ...

Last Updated: 23 Apr 2014

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Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.
 

Author(s): Hiram Larangeira de Almeida, Gabriela Rossi, Luciana Boff de Abreu, Cristina Bergamaschi, Alessandra Banaszeski da Silva, Kerstin Kutsche

Journal: An Bras Dermatol. ;89(1):180-1.

 

The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with ...

Last Updated: 14 Mar 2014

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Hispolon decreases melanin production and induces apoptosis in melanoma cells through the downregulation of tyrosinase and microphthalmia-associated transcription factor (MITF) expressions and the activation of caspase-3, -8 and -9.
 

Author(s): Yi-Shyan Chen, Shu-Mei Lee, Chih-Chien Lin, Chia-Yi Liu

Journal:

 

Hispolon is one of the most important functional compounds that forms Phellinus linteus (Berkeley & Curtis) Teng. Hispolon has antioxidant, anti-inflammatory, antiproliferative and anticancer effects. In this study, we analyzed the functions of hispolon on melanogenesis and apoptosis ...

Last Updated: 21 Jan 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

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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: 23 Jun 2011

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