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

Role of microRNA508-3p in melanogenesis by targeting microphthalmia transcription factor in melanocytes of alpaca.
 

Author(s): J Zhang, Y Liu, Z Zhu, S Yang, K Ji, S Hu, X Liu, J Yao, R Fan, C Dong

Journal: Animal. 2017 Feb;11(2):236-243.

 

It has been demonstrated that microRNAs (miRNAs) play important roles in the control of melanogenesis and hair color in mammals. By comparing miRNA expression profiles between brown and white alpaca skin, we previously identified miR508-3p as a differentially expressed miRNA suggesting ...

Last Updated: 13 Jul 2016

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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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Cooperative antiproliferative signaling by aspirin and indole-3-carbinol targets microphthalmia-associated transcription factor gene expression and promoter activity in human melanoma cells.
 

Author(s): Kevin M Poindexter, Susanne Matthew, Ida Aronchik, Gary L Firestone

Journal: Cell Biol. Toxicol.. 2016 04;32(2):103-19.

 

Antiproliferative signaling of combinations of the nonsteroidal anti-inflammatory drug acetylsalicylic acid (aspirin) and indole-3-carbinol (I3C), a natural indolecarbinol compound derived from cruciferous vegetables, was investigated in human melanoma cells. Melanoma cell lines with ...

Last Updated: 27 Apr 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: 4 May 2017

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