An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

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An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

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2017 nî lūn-bûn

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An ENU-induced splice site mut ...... ealing a novel splicing rescue

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An ENU-induced splice site mut ...... ealing a novel splicing rescue

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An ENU-induced splice site mut ...... ealing a novel splicing rescue

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P1476

An ENU-induced splice site mut ...... ealing a novel splicing rescue

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Eva Marie Y Moresco

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Hiromasa Yoshie

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Kazuhisa Yamazaki

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Kei Arimatsu

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Mai Yokoji

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Naoki Takahashi

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Norio Amizuka

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Sayuri Miyauchi

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Takako Ida

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Tomoka Hasegawa

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P2860

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

Toll-like receptors 9 and 3 as essential components of innate immune defense against mouse cytomegalovirus infection

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

The spliceosome: design principles of a dynamic RNP machine

Mutations in collagen genes: causes of rare and some common diseases in humans

The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

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s41598-017-10343-9

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scholarly article

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10.1038/S41598-017-10343-9

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English

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2017-09-15T00:00:00Z

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P6179

1091665627

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P698

28916811

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P921

osteogenesis imperfecta

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5600972

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