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

Autopsy Case of Bilateral Optic Nerve Aplasia with Microphthalmia: Neural Retina Formation Is Required for the Coordinated Development of Ocular Tissues.
 

Author(s): Hideyo Ohuchi, Kaori Taniguchi, Satoru Miyaishi, Hitomi Kono, Hirofumi Fujita, Tetsuya Bando, Chiharu Fuchizawa, Yuko Ohtani, Osamu Ohtani

Journal: Acta Med. Okayama. 2016 ;70(2):131-7.

 

Human congenital anomalies provide information that contributes to the understanding of developmental mechanisms. Here we report bilateral optic nerve aplasia (ONA) with microphthalmia in the autopsy of the cadaver of a 70-year-old Japanese female. The gross anatomical inspection ...

Last Updated: 20 Apr 2016

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Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.
 

Author(s): Bin Wen, Shuang Li, Huirong Li, Yu Chen, Xiaoyin Ma, Jing Wang, Fan Lu, Jia Qu, Ling Hou

Journal:

 

Regeneration of the visual pigment by cells of the retinal pigment epithelium (RPE) is fundamental to vision. Here we show that the microphthalmia-associated transcription factor, MITF, which plays a central role in the development and function of RPE cells, regulates the expression ...

Last Updated: 15 Feb 2016

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Microphthalmia-associated transcription factor is expressed in projection neurons of the mouse olfactory bulb.
 

Author(s): Koji Ohba, Kazuhisa Takeda, Hiroaki Yamamoto, Shigeki Shibahara

Journal: Genes Cells. 2015 Dec;20(12):1088-102.

 

Microphthalmia-associated transcription factor (Mitf) is a key regulator for differentiation of the neural crest-derived melanocytes. Mitf consists of multiple isoforms, including melanocyte-specific Mitf-M and widely expressed Mitf-A and Mitf-H. Mitf mRNAs are also expressed in the ...

Last Updated: 15 Jan 2016

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

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
 

Author(s): Linda M Reis, Elena V Semina

Journal: Birth Defects Res. C Embryo Today. 2015 Jun;105(2):96-113.

 

The human eye is a complex organ whose development requires extraordinary coordination of developmental processes. The conservation of ocular developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause ...

Last Updated: 27 Jun 2015

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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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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: 15 Dec 2016

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