An ENU-induced p.C225S missense mutation in the mouse <i>Tgfb1</i> gene does not cause Camurati-Engelmann disease-like skeletal phenotypes
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چکیده
منابع مشابه
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes
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 ...
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This 42 year old woman had a history of delayed motor development, chronic muscle fatigue and gait disturbance. Her mother and mother’s brother suffered from similar symptoms. At the age of 20 she was diagnosed with Camurati-Engelmann syndrome. At that time she started to suffer from fluctuating tinnitus in the right ear and attacks of rotational vertigo lasting hours. The vertigo was accompani...
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1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...
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Alisher J. Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho, Reply: We thank Dr. Viana and colleagues for the interest in our study. It was interesting to know about four Brazilian patients with Camurati-Engelmann disease (CED). Making a timely and correct diagnosis is still important to avoid unnecessary ...
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ژورنال
عنوان ژورنال: Experimental Animals
سال: 2017
ISSN: 1341-1357,1881-7122
DOI: 10.1538/expanim.16-0085