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Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 1 3q

Article Abstract:

The characterization of a large Japenese family with an inherited disease of the hip that is indistinguishable from common hip osteoarthritis (OA), as evidenced by clinical symptoms and radiographs of the joint is reported. The family described represents a novel genetic entity as a monogenic form of hip OA and its further characterization could aid in elucidating the etiology and pathogenesis of a common idiopathic form of OA.

Author: Ikegawa, Shiro, Mabuchi, Akihiko, Nakamura, Shigeru, Takatori, Yoshio
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Japan, Diagnosis, Observations, Osteoarthritis, Hip joint, Radiography, Medical, Medical radiography, Haplotypes, Clinical report, Hip dislocation

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Association of the asporin D14 allele with lumbar-disc degeneration in Asians

Article Abstract:

Several candidate-gene association studies are conducted to explain the relation of asporin D14 allele (ASPN) with the lumbar-disc degeneration (LDD) in Asians. ASPN is found to act as a LDD gene in Asians, the expression of which increases with age and degeneration.

Author: Karppinen, Jaro, Kawaguchi, Yoshiharu, Ikegawa, Shiro, Chiba, Kazuhiro, Hirose, Yuichiro, You-Qiang Song, Cheung, Kenneth M.C., Ho, Daniel W.H., Poon, Sandy C.S., Alini, Mauro, Grad, Sibylle, Yee, Anita F.Y., Leong, John C.Y., Luk, Keith D.K., Cheah, Kathryn S.E., Pak Sham, Chan, Danny
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Health aspects, Allelomorphism, Alleles, Asians, Low back pain, Genetic susceptibility

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A functional polymorphism in COL11A1, which encodes the [alpha]1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation

Article Abstract:

COL11A1, type XI collagen genes is identified as a gene for lumbar disc herniation (LDH) disease. It was observed that COL11A1 was highly expressed in intervertebral disc (IVD) but its expression was decreased in the IVD of patients with LDH.

Author: Mori, Masaki, Kawaguchi, Yoshiharu, Ozaki, Kouichi, Tanaka, Toshihiro, Ikegawa, Shiro, Toyama, Yoshiaki, Mio, Futoshi, Chiba, Kazuhiro, Hirose, Yuichiro, Mikami, Yasuo, Oya, Takeshi, Kamata, Michihiro, Matsumoto, Morio, Takahashi, Atsushi, Kubo, Toshikazu, Kimura, Tomoatsu
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Gene expression, Intervertebral disk displacement, Intervertebral disk, Single nucleotide polymorphisms

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Subjects list: Research, Genetic aspects
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