Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia

Autor: Akihiro Nagano, Shiroh Miura, Hiroaki Ohishi, Takuya Morikawa, Motoko Unoki, Kengo Kosaka, Hiroyuki Sasaki, Kosei Moriyama, Motonao Nakao, Takeshi Bamba, Yoshihiro Izumi, Masatomo Takahashi, Itsuki Taniguchi, Tomofumi Shimojo, Ryuta Fujioka, Hiroki Shibata

Publikováno v: Bioscience Reports

We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28; OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d52e818085dec0a19aa09cd32ab81a
https://pubmed.ncbi.nlm.nih.gov/33600578

Letištní hala

Autor: Kulichová, Jana

The construction of the concourse is designed from steel.Construction was designed in 2 variants.The construction of the hall is radially curved in plan view with a circular sector on the longitudinal side.Roof structure consists of eight trusses at

Externí odkaz: http://www.nusl.cz/ntk/nusl-227583

Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia.

Autor: Morikawa T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Ohishi H; Division of Epigenomics and Development Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Kosaka K; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Shimojo T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Nagano A; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Taniguchi I; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Fujioka R; Department of Food and Nutrition, Beppu University Junior College, 82, Kitaishigaki, Beppu, Oita, Japan., Moriyama K; Department of Nutritional Sciences, Nakamura Gakuen University, 5-7-1, Befu, Zyonan-ku, Fukuoka, Japan., Unoki M; Division of Epigenomics and Development Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Takahashi M; Division of Metabolomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Nakao M; Division of Metabolomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Izumi Y; Division of Metabolomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Bamba T; Division of Metabolomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Sasaki H; Division of Epigenomics and Development Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Miura S; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, 454, Shitsukawa, Toon, Ehime, Japan., Shibata H; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.

Publikováno v: Bioscience reports [Biosci Rep] 2021 Feb 26; Vol. 41 (2).