نتایج جستجو برای: microphthalmia

تعداد نتایج: 1639  

Journal: :Molecular Vision 2009
Nikolas J.S. London Patricia Kessler Bryan Williams Gayle J. Pauer Stephanie A. Hagstrom Elias I. Traboulsi

PURPOSE Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations. METHODS We used standard P...

2014
Huey-Chun Huang Shu-Jen Chang Chia-Yin Wu Hui-Ju Ke Tsong-Min Chang

[6]-Shogaol is the main biologically active component of ginger. Previous reports showed that [6]-shogaol has several pharmacological characteristics, such as antioxidative, anti-inflammatory, antimicrobial, and anticarcinogenic properties. However, the effects of [6]-shogaol on melanogenesis remain to be elucidated. The study aimed to evaluate the potential skin whitening mechanisms of [6]-sho...

2013
Gilberto Jaramillo-Rangel Marta Ortega-Martínez Julio Sepúlveda-Saavedra Odila Saucedo-Cárdenas Roberto Montes-de-Oca-Luna

PURPOSE p53 is a transcription factor that plays an important role in preventing cancer development. p53 participates in relevant aspects of cell biology, including apoptosis and cell cycle control and must be strictly regulated to maintain normal tissue homeostasis. p53 E3 ubiquitin protein ligase homolog (Mdm2) is an important negative regulator of p53. The purpose of this study was to determ...

2014
Lucia Margari Annalisa Colonna Francesco Craig Mattia Gentile Giustina Giannella Anna Linda Lamanna Anna Rosi Legrottaglie

BACKGROUND Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majorit...

Journal: :Investigative ophthalmology & visual science 1994
C E Egwuagu J Sztein C C Chan W Reid R Mahdi R B Nussenblatt A B Chepelinsky

PURPOSE To direct the expression of gamma IFN to the eyes of transgenic mice as a means of investigating the possible role of this lymphokine in ocular pathogenesis. METHODS Transgenic mouse strains were generated by injection of a DNA fragment containing the murine alpha A-crystallin promoter fused to the coding sequence of murine gamma IFN gene. PCR and RT-PCR were used to screen for the pr...

2016
Zahra Tayarani-Najaran Maryam Akaberi Mohsen Vatani Seyed Ahmad Emami

OBJECTIVES Nepeta binaludensis Jamzad (Lamiaceae) has been used in folk medicine of Iran to cure various diseases. The plant is an endemic species to the country that has recently been identified in Razavi Khorasan province. To evaluate the antioxidant and anti-melanogenesis of N. binaludensis, in this study the inhibitory activity of different extracts of N. binaludensis in murine melanoma B16...

2012
Changjiang Zou Edward M. Levine

The homeodomain and adjacent CVC domain in the visual system homeobox (VSX) proteins are conserved from nematodes to humans. Humans with missense mutations in these regions of VSX2 have microphthalmia, suggesting both regions are critical for function. To assess this, we generated the corresponding mutations in mouse Vsx2. The homeodomain mutant protein lacked DNA binding activity and the knock...

Journal: :Pigment cell & melanoma research 2009
Julia C Cronin John Wunderlich Stacie K Loftus Todd D Prickett Xiaomu Wei Katie Ridd Swapna Vemula Allison S Burrell Neena S Agrawal Jimmy C Lin Carolyn E Banister Phillip Buckhaults Steven A Rosenberg Boris C Bastian William J Pavan Yardena Samuels

Microphthalmia-associated transcription factor (MITF) is involved in melanocyte cell development, pigmentation and neoplasia. To determine whether MITF is somatically mutated in melanoma, we compared the sequence of MITF from primary and metastatic lesions to patient-matched normal DNA. In the 50 metastatic melanoma tumor lines analysed, we discovered four samples that had genomic amplification...

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