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Microphthalmia

Microphthalmia means small eyes. In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia. more...

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The gene encoding the microphthalmia-associated transcription factor (Mitf) is a member of the basic helix-loophelix-leucine zipper (bHLH-ZIP) family. Waardenburg syndrome type 2 (WS type 2)in humans is also a type of microphthalmia syndrome. Mutation in MITF gene are thought to be responsible for this syndrome. The human MITF gene is homologous to the mouse MITF gene (aka mouse mi or microphthalmia gene); mouse with mutations in this gene are hypopigmented in their fur. The identification of the genetics of WS type 2 owes a lot to observations of phenotypes of MITF mutant mice.

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Gale Encyclopedia of Medicine : Microphthalmia and anophthalmia $2.30 The regulation of melanoma antigens by the microphthalmia transcription factor : (Dissertation) $55.00
The Official Parent's Sourcebook on Microphthalmia $28.24 The Official Parent's Sourcebook on Microphthalmia: A Revised and Updated Directory for the Internet Age $24.95

Giant Cell Tumors: Inquiry Into Immunohistochemical Expression of CD117 (c-Kit), Microphthalmia Transcription Factor, Tartrate-Resistant Acid Phosphatase,
Context.-Osteoclast-like giant cells (GCs) in giant cell tumors (GCTs) are thought to derive from a monocyte-macrophage lineage. Microphthalmia transcription ...
Geographical variation in anophthalmia and microphthalmia in England, 1988-94 - followed by commentary
Objective: To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports ...
Clustering of anophthalmia and microphthalmia - Editorial
No clustering has been found--but a link seems to exist with population density A few years ago public concern was raised in England by the appearance ...
Commentary: clustering of anophthalmia and microphthalmia is not supported by the data - response to 'Geographical variation in anophthalmia and microphthalmia
Clustering is a difficult concept to define precisely. It is important to distinguish it from the notion of an individual cluster, corresponding to an ...
Histopathological Evaluation of Five Unusual Gingival Enlargement Cases
Gingival fibromatosis represents the fibrous hyperplasia of the gingival tissue. Clinical examination reveals enlargement of buccal and palatal gingival ...
Malignant Melanoma With a Rhabdoid Phenotype: Histologic, Immunohistochemical, and Ultrastructural Study of a Case and Review of the Literature
Malignant melanoma is known to display tremendous histologic diversity. One rare variant is the rhabdoid phenotype, so called because of the appearance ...
Tyrosinase expression in malignant melanoma, desmoplastic melanoma, and peripheral nerve tumors / In reply
To the Editor-We read with interest the article "Tyrosinase Expression in Malignant Melanoma, Desmoplastic Melanoma, and Peripheral Nerve Tumors" by Boyle ...
Clinicopathologic differences in malignant melanoma arising in oral squamous and sinonasal respiratory mucosa of the upper aerodigestive tract
Objective.-Primary mucosal melanomas are rare tumors. We compare melanomas arising in 2 histologically different mucosa, the stratified oral squamous ...

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