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Article

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.

Human molecular genetics - 15 Jun 2003

Takeda Satoshi, Kondo Mari, Sasaki Junko, Kurahashi Hiroki, Kano Hiroki, Arai Ken, Misaki Kazuyo, Fukui Takehiko, Kobayashi Kazuhiro, Tachikawa Masaji, Imamura Michihiro, Nakamura Yusuke, Shimizu Teruo, Murakami Tatsufumi, Sunada Yoshihide, Fujikado Takashi, Matsumura Kiichiro, Terashima Toshio, Toda Tatsushi

Abstract excerpt

Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal-recessive disorders in Japan, is characterized by congenital muscular dystrophy associated with brain malformation due to a defect during neuronal migration. Through positional cloning, we previously identified the gene for FCMD, which encodes the fukutin protein. Here we report that chimeric mice generated using embryonic stem...

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PMID: 12783852
DOI: 10.1093/hmg/ddg153

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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.PMID 12783852Read ↗

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Basement membrane fragility underlies embryonic lethality in fukutin-null mice.Semantic proximity Read ↗

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.Semantic proximity Read ↗

Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathySemantic proximity Read ↗

β2 and γ3 laminins are critical cortical basement membrane components: Ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasiaSemantic proximity Read ↗

[Fukuyama-type congenital muscular dystrophy].Semantic proximity Read ↗

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.Semantic proximity Read ↗

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FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies.Semantic proximity Read ↗

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].Semantic proximity Read ↗

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

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