نتایج جستجو برای: rieger syndrome

تعداد نتایج: 622129  

2018
Fahed A. Elian Elizabeth Yan Michael A. Walter

In recent years, rapidly accumulating evidence implicates forkhead box C1 (FOXC1) in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that FOXC1 is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The FO...

Journal: :Journal of neuroscience research 2015
Mindy R Waite Donna M Martin

Transcriptional regulation of gene expression is vital for proper control of proliferation, migration, differentiation, and survival of developing neurons. Pitx2 encodes a homeodomain transcription factor that is highly expressed in the developing and adult mammalian brain. In humans, mutations in PITX2 result in Rieger syndrome, characterized by defects in the development of the eyes, umbilicu...

Journal: :Genesis 2006
Anthony M Sclafani Jennifer M Skidmore Hemanth Ramaprakash Andreas Trumpp Philip J Gage Donna M Martin

Nestin-Cre mice are widely used to generate gene deletions in the developing brain. Surprisingly, fewNestin-Cre lines have been characterized for their temporal and brain region-specific recombination. In addition, some Nestin-Cre lines express Cre outside the central nervous system, making it difficult to choose appropriate lines for targeting genes with brain region-restricted expression. Her...

Journal: :Zootaxa 2014
Ernest R Schockaert

Ten species of Macrostomorpha were found in marine environments of the Algarve (Portugal). Six of them were found in the Ria Formosa, a vast intertidal euryhaline lagoon system that dominates the most Eastern coast of the Algarve: two unidentified species of Microstomum Schmidt, 1848, Macrostomum cf. rubrocinctum Ax, 1951 and two unidentified species of Macrostomum Schmidt, 1848, Paromalostomum...

2017
Kuanshu Li Liu Yang Ying Liu Ding Lin

PURPOSE To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were f...

2013
Stefan Siwko Li Lai Jinsheng Weng Mingyao Liu

The leucine-rich repeat-containing G protein-coupled receptor 4 (LGR4, also called GPR48) plays a key role in multiple developmental processes, and mice lacking Lgr4 display anterior segment dysgenesis leading to early-onset glaucomatous retinal ganglion cell loss as well as defective eyelid formation. This paper will review Lgr4 signaling and its regulation of the Axenfeld-Rieger syndrome gene...

Journal: :Archives of dermatology 2012
Evelyn Lilly Chrysalyne D Schmults

“Abtropfung” vs “Hochsteigerung”. Arch Dermatol. 2007;143(2):284. 2. Hofmann-Wellenhof R, Blum A, Wolf IH, et al. Dermoscopic classification of atypical melanocytic nevi (Clark nevi). Arch Dermatol. 2001;137(12):15751580. 3. Rieger E, Kofler R, Borkenstein M, Schwingshandl J, Soyer HP, Kerl H. Melanotic macules following Blaschko’s lines in McCune-Albright syndrome. Br J Dermatol. 1994;130(2):2...

Journal: :Human molecular genetics 1998
S C Kulak K Kozlowski E V Semina W G Pearce M A Walter

Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by ir...

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