نتایج جستجو برای: tgfbi

تعداد نتایج: 293  

Journal: :Investigative ophthalmology & visual science 2000
A E Ridgway S Akhtar F L Munier D F Schorderet H Stewart R Perveen R E Bonshek M T Odenthal M Dixon R Barraquer R Escoto G C Black

PURPOSE Two mutations (R555Q and R124L) in the BIGH3 gene have been described in anterior or Bowman's layer dystrophies (CDB). The clinical, molecular, and ultrastructural findings of five families with CDB was reviewed to determine whether there is a consistent genotype:phenotype correlation. METHODS Keratoplasty tissue from each patient was examined by light and electron microscopy (LM and ...

Journal: :Archives of ophthalmology 2003
Benjamin Mathew Seymour Brownstein Wenjun Bao Gordon K Klintworth Daljit Singh

Superficial granular corneal dystrophy (SGCD) is a variant of GCD that is restricted to involvement of the Bowman layer and the superficial corneal stroma. Superficial and classic GCD result from mutations in the human transforming growth factor –induced gene (BIGH3) on human chromosome 5 (5q31). We report an unusual case of a patient with SGCD in which the typical deposits of GCD were associat...

Journal: :International journal of oncology 2008
Juergen Becker Sonja Volland Ievgeniia Noskova Alexander Schramm Lothar L Schweigerer Joerg Wilting

Neuroblastoma is the most frequent solid malignancy of children. The most reliable prognostic factor in neuroblastoma is the amplification status of the MYCN oncogene, but exceptions from this rule have been observed. Recently we have demonstrated that keratoepithelin (BIGH3, TGFBI) expression significantly reduces proliferation and invasion of neuroblastomas in vitro and in vivo. In these expe...

Journal: :Oncologie 2022

Objective: To investigate the expression of alpha–smooth muscle actin (ACTA2) in osteosarcoma tissues and its relationship with prognosis. Methods: Prognostic analysis lung metastasis–related genes using TCGA database. Single-cell sequencing detected ACTA2 11 tissues. Paraf- fin-embedded 74 patients treated at Sixth People’s Hospital Shanghai Jiao Tong University from 2014 to 2019 were collecte...

Journal: :Acta crystallographica. Section F, Structural biology and crystallization communications 2009
Kasper Runager Raquel García-Castellanos Zuzana Valnickova Torsten Kristensen Niels Chr Nielsen Gordon K Klintworth F Xavier Gomis-Rüth Jan J Enghild

Transforming growth factor beta-induced protein (TGFBIp) has been linked to several corneal dystrophies as certain point mutations in the protein may give rise to a progressive accumulation of insoluble protein material in the human cornea. Little is known about the biological functions of this extracellular protein, which is expressed in various tissues throughout the human body. However, it h...

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