usher syndromes/rak

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Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I.

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Prijava / prijava

Vasoproliferative tumours may be primary or secondary and present with severe exudation leading to marked visual loss. We describe a 47-year-old man with unilateral secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher I syndrome who was successfully treated with a

[Senear-Usher syndrome as a complication of radiotherapy of laryngeal cancer].

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Prijava / prijava

Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.

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Prijava / prijava

Gbx2 encodes a DNA-binding transcription factor that plays pivotal roles during embryogenesis. Gain-and loss-of-function studies in several vertebrate species have demonstrated a requirement for Gbx2 in development of the anterior hindbrain, spinal cord, inner ear, heart, and neural crest cells.

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

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Prijava / prijava

OBJECTIVE The main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order to identify novel susceptibility genes of moderate-high penetrance. METHODS We screened 264 candidate

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

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Prijava / prijava

BACKGROUND In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with

Characterization of human homologs of the Drosophila seven in absentia (sina) gene.

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Prijava / prijava

Studies of Drosophila photoreceptor development have illustrated the means by which signal transduction events regulate cell fate decisions in a multicellular organization. Development of the R7 photoreceptor is best understood, and its formation is dependent on the seven in absentia (sina) gene. We

Expression of AIE-75 PDZ-domain protein induces G2/M cell cycle arrest in human colorectal adenocarcinoma SW480 cells.

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Prijava / prijava

AIE-75 has been known as a 75-kDa autoantigen detected in the serum of autoimmune enteropathy (AIE) and as a colon cancer-related antigen, and now designated as a gene causative of Usher syndrome type 1C hereditary syndromic hearing loss. It binds to a novel putative tumor suppressor MCC2 that is

A unique form of endemic pemphigus in northern Colombia.

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Prijava / prijava

BACKGROUND Endemic forms of pemphigus are a unique group of autoimmune diseases that represent opportunities to study interactions of the environment and genetics with the immune system. The restriction to relatively well-defined regions of South and Central America and perhaps Africa characterizes

Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease.

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Prijava / prijava

Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and

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