Structural Assessment ofPITX2,FOXC1,CYP1B1, andGJA1Genes in Patients with Axenfeld-Rieger Syndrome with Developmental Glaucoma

2006 ◽  
Vol 47 (5) ◽  
pp. 1803 ◽  
Author(s):  
Wener Cella ◽  
Jose´ Paulo Cabral de Vasconcellos ◽  
Mo^nica Barbosa de Melo ◽  
Bianca Kneipp ◽  
Fernando Ferreira Costa ◽  
...  
Keyword(s):  
Structural Assessment ◽  
Rieger Syndrome ◽  
Developmental Glaucoma

scholarly journals Structural assessment of the EU-DEMO WCLL Central Outboard Blanket segment under normal and off-normal operating conditions

2021 ◽  
Vol 167 ◽  
pp. 112350
Author(s):  
Ilenia Catanzaro ◽  
Pietro Arena ◽  
Salvatore Basile ◽  
Gaetano Bongiovì ◽  
Pierluigi Chiovaro ◽  
...  
Keyword(s):  
Operating Conditions ◽  
Structural Assessment ◽  
Normal Operating ◽  
The Eu

Structural Assessment of Externally Strengthened Bridge Deck Panels

2006 ◽  
Vol 13 (2) ◽  
pp. 99-114 ◽  
Author(s):  
Jongsung Sim ◽  
Hongseob Oh ◽  
Christian Meyer
Keyword(s):  
Bridge Deck ◽  
Structural Assessment ◽  
Deck Panels

Structural assessment of single amino acid mutations: application to TP53 function

2006 ◽  
Vol 27 (9) ◽  
pp. 926-937 ◽  
Author(s):  
Yum L. Yip ◽  
Vincent Zoete ◽  
Holger Scheib ◽  
Olivier Michielin
Keyword(s):  
Amino Acid ◽  
Single Amino Acid ◽  
Structural Assessment ◽  
Amino Acid Mutations

scholarly journals Loss of FOXC1 contributes to the corneal epithelial fate switch and pathogenesis

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Mingsen Li ◽  
Liqiong Zhu ◽  
Jiafeng Liu ◽  
Huaxing Huang ◽  
Huizhen Guo ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Corneal Epithelium ◽  
Corneal Ulcer ◽  
Corneal Epithelial ◽  
Ocular Development ◽  
Rieger Syndrome ◽  
Corneal Ulcers ◽  
Epithelial Homeostasis ◽  
Forkhead Box ◽  
Interferon Regulatory Factor 1

AbstractForkhead box C1 (FOXC1) is required for neural crest and ocular development, and mutations in FOXC1 lead to inherited Axenfeld–Rieger syndrome. Here, we find that FOXC1 and paired box 6 (PAX6) are co-expressed in the human limbus and central corneal epithelium. Deficiency of FOXC1 and alternation in epithelial features occur in patients with corneal ulcers. FOXC1 governs the fate of the corneal epithelium by directly binding to lineage-specific open promoters or enhancers marked by H3K4me2. FOXC1 depletion not only activates the keratinization pathway and reprograms corneal epithelial cells into skin-like epithelial cells, but also disrupts the collagen metabolic process and interferon signaling pathways. Loss of interferon regulatory factor 1 and PAX6 induced by FOXC1 dysfunction is linked to the corneal ulcer. Collectively, our results reveal a FOXC1-mediated regulatory network responsible for corneal epithelial homeostasis and provide a potential therapeutic target for corneal ulcer.

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

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