نتایج جستجو برای: camurati

تعداد نتایج: 226  

2017
Satoki Ichimura Shun Sasaki Takuya Murata Ryutaro Fukumura Yoichi Gondo Shiro Ikegawa Tatsuya Furuichi

Camurati-Engelmann disease (CED) is a rare sclerosing bone disorder in humans with autosomal dominant inheritance. Mutations in the gene (TGFB1) that encodes transforming growth factor-β1 (TGF-β1) are causative for CED. TGF-β1 signaling is enhanced by the CED-causing mutations. In this study, we performed Tgfb1 mutation screening in an ENU-mutagenized mouse genomic DNA library. We identified a ...

2009
Seo-Jin Park Choon Sik Yoon Hui-Wan Park Jong Rak Choi Jong Shin Chung Kyung-A Lee

Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain ...

Journal: :Birth defects original article series 1975
I Kaitila R E Stewart E Landow R Lachman D L Rimoin

Craniodiaphyseal dysplasia is a very severe bone dysplasia characterised by massive generalised hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurological impairment in childhood. In 1958, Joseph et all described a child with severe sclerosis of the skull and facial deformity, noted the similarity...

Journal: :International journal of epidemiology 2007
Sohana Shafique Nasima Akhter Gudrun Stallkamp Saskia de Pee Dora Panagides Martin W Bloem

BACKGROUND Although undernutrition and communicable diseases dominate the current disease burden in resource-poor countries, the prevalence of diet related chronic diseases is increasing. This paper explores current trends of under- and overweight in Bangladeshi women. METHOD Nationally representative data on reproductive age women from rural Bangladesh (n = 242,433) and selected urban poor a...

Journal: :The British journal of nutrition 2001
C Picherit B Chanteranne C Bennetau-Pelissero M J Davicco P Lebecque J P Barlet V Coxam

The dose-dependent bone-sparing effects of dietary isoflavones (IF) were investigated in adult (7-month-old) Wistar rats. Forty animals were ovariectomised, allocated into four groups of ten rats each, and immediately treated orally with IF at 0 (OVX), 20 (IF20), 40 (IF40) or 80 (IF80) microg/g body weight per d for 91 d; ten sham-operated (SH) controls received the same diet without added IF. ...

2009
R. TALBOT TROTTER KATHLEEN S. SHIELDS

Thehemlockwoolly adelgid (Adelges tsugaeAnnand) is a small, aphid-like insect native to East Asia and western North America. First documented in the eastern United States in Richmond, VA, in 1951, it has spread to at least 17 states, where it causes increased mortality among both eastern and Carolina hemlocks (Tsuga canadensis Carrière and T. caroliniana Engelmann., respectively). Previousworkh...

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