Microphthalmia

Common Name(s)

Microphthalmia

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
 

Author(s): Marina Riera, Ana Wert, Isabel Nieto, Esther Pomares

Journal: Mol Genet Genomic Med. 2017 11;5(6):709-719.

 

Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate ...

Last Updated: 31 Dec 1969

Go To URL
Inhibition of NAT10 Suppresses Melanogenesis and Melanoma Growth by Attenuating Microphthalmia-Associated Transcription Factor (MITF) Expression.
 

Author(s): Taek-In Oh, Yoon-Mi Lee, Beong-Ou Lim, Ji-Hong Lim

Journal:

 

-acetyltransferase 10 (NAT10) has been considered a target for the treatment of human diseases such as cancer and laminopathies; however, its functional role in the biology of melanocytes is questionable. Using a small molecule or small interfering RNA targeting NAT10, we examined ...

Last Updated: 31 Dec 1969

Go To URL
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
 

Author(s): Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi

Journal: J. Pathol.. 2017 Sep;243(1):9-15.

 

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas ...

Last Updated: 31 Dec 1969

Go To URL

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: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
 
 
Top

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: 7 Jan 2018

Go to URL