Mutation Analysis of the COL1A1 Gene in Czech Patients Affected by Osteogenesis Imperfecta, Type I-IV

European Journal for Biomedical Informatics ◽

10.24105/ejbi.2012.08.5.6 ◽

2012 ◽

Author(s):

Lucie Sormova ◽

Ivan Mazura ◽

Ivo MarAk

Keyword(s):

Osteogenesis Imperfecta ◽

Mutation Analysis ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I

Injury ◽

10.1016/j.injury.2019.10.033 ◽

2019 ◽

Vol 50 (12) ◽

pp. 2215-2219 ◽

Author(s):

Yuxiang Lin ◽

Xiaoli Li ◽

Xinghua Huang ◽

Dezhu Zheng ◽

Yichu Liu ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Splice Site ◽

Chinese Patient ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Splice Site Variant ◽

Osteogenesis Imperfecta Type I

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A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I

Matrix Biology ◽

10.1016/s0945-053x(98)90007-5 ◽

1998 ◽

Vol 16 (6) ◽

pp. 349-352 ◽

Author(s):

L. Nuytinck ◽

C. Coppin ◽

A. De Paepe

Keyword(s):

Osteogenesis Imperfecta ◽

Base Pair ◽

Untranslated Region ◽

Null Allele ◽

Insertion Polymorphism ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I ◽

Base Pair Insertion

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Frameshift mutation near the 3′ end of the COL1A1 gene of type I collagen predicts an elongated Proα1(I) chain and results in osteogenesis imperfecta type I

Journal of Clinical Investigation ◽

10.1172/jci114424c1 ◽

1990 ◽

Vol 85 (4) ◽

pp. 1339-1339

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Frameshift Mutation ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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Mutation analysis ofCOL1A1andCOL1A2in patients diagnosed with osteogenesis imperfecta type I-IV

Human Mutation ◽

10.1002/humu.9430 ◽

2006 ◽

Vol 27 (7) ◽

pp. 716-716 ◽

Author(s):

Rebecca Pollitt ◽

Robert McMahon ◽

Janice Nunn ◽

Robert Bamford ◽

Amal Afifi ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Mutation Analysis ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Osteogenesis Imperfecta Type I

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Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

Journal of Clinical Investigation ◽

10.1172/jci114424 ◽

1990 ◽

Vol 85 (1) ◽

pp. 282-290 ◽

Author(s):

M C Willing ◽

D H Cohn ◽

P H Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Frameshift Mutation ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature

Gene ◽

10.1016/j.gene.2020.144565 ◽

2020 ◽

Vol 741 ◽

pp. 144565 ◽

Author(s):

Cristina Gug ◽

Lavinia Caba ◽

Ioana Mozos ◽

Dana Stoian ◽

Diter Atasie ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Osteogenesis Imperfecta ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Splicing Mutation ◽

Review Of The Literature ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains

Matrix Biology ◽

10.1016/s0945-053x(99)00056-6 ◽

2000 ◽

Vol 19 (1) ◽

pp. 1-9 ◽

Author(s):

Rebecca L. Slayton ◽

Sachi P. Deschenes ◽

Marcia C. Willing

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Nonsense Mutations ◽

Col1a1 Gene ◽

Cell Strains ◽

Nuclear Levels ◽

Osteogenesis Imperfecta Type I

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A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family

Clinica Chimica Acta ◽

10.1016/j.cca.2008.07.030 ◽

2008 ◽

Vol 398 (1-2) ◽

pp. 148-151 ◽

Author(s):

Xin-Yi Xia ◽

Ying-Xia Cui ◽

Yu-Feng Huang ◽

Lian-Jun Pan ◽

Bin Yang ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Rna Splicing ◽

Chinese Family ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Splicing Mutation ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

Journal of Medical Genetics ◽

10.1136/jmg.32.9.697 ◽

1995 ◽

Vol 32 (9) ◽

pp. 697-700 ◽

Author(s):

M C Willing ◽

R L Slayton ◽

S H Pitts ◽

S P Deschenes

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Osteogenesis Imperfecta Type I

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A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽

10.1016/j.bone.2019.07.021 ◽

2019 ◽

Vol 127 ◽

pp. 646-655 ◽

Author(s):

Yi Liu ◽

Jianhai Wang ◽

Shuo Liu ◽

Mingjie Kuang ◽

Yaqing Jing ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Murine Model ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Transgenic Murine Model ◽

Brittle Bones ◽

Osteogenesis Imperfecta Type I

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