M C Willing - JoVE Visualize

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Nature|February 15, 1979

Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybridsM C Willing, A W Nienhuis, W F Anderson

Matrix Biology : Journal of the International Society for Matrix Biology|February 25, 2000

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strainsR L Slayton, S P Deschenes, M C Willing

American Journal of Medical Genetics|January 15, 1993

Molecular heterogeneity in osteogenesis imperfecta type IM C Willing, C J Pruchno, P H Byers

The Journal of Clinical Investigation|January 1, 1990

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 IM C Willing, D H Cohn, P H Byers

American Journal of Human Genetics|September 1, 1992

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagenM C Willing, C J Pruchno, M Atkinson, et al.

American Journal of Human Genetics|October 1, 1996

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsM C Willing, S P Deschenes, R L Slayton, et al.

Journal of Medical Genetics|July 4, 2001

Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfectaJ M Pace, C D Kuslich, M C Willing, et al.

Journal of Medical Genetics|September 1, 1995

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type IM C Willing, R L Slayton, S H Pitts, et al.

American Journal of Human Genetics|May 1, 1990

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfectaR J Wenstrup, M C Willing, B J Starman, et al.

Human Mutation|October 23, 2001

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfectaJ M Pace, M Atkinson, M C Willing, et al.

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Showing results (1-10 of 25) with videos related to

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Pageof 3

Nature|February 15, 1979

Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybridsM C Willing, A W Nienhuis, W F Anderson

Matrix Biology : Journal of the International Society for Matrix Biology|February 25, 2000

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strainsR L Slayton, S P Deschenes, M C Willing

American Journal of Medical Genetics|January 15, 1993

Molecular heterogeneity in osteogenesis imperfecta type IM C Willing, C J Pruchno, P H Byers

The Journal of Clinical Investigation|January 1, 1990

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 IM C Willing, D H Cohn, P H Byers

American Journal of Human Genetics|September 1, 1992

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagenM C Willing, C J Pruchno, M Atkinson, et al.

American Journal of Human Genetics|October 1, 1996

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsM C Willing, S P Deschenes, R L Slayton, et al.

Journal of Medical Genetics|July 4, 2001

Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfectaJ M Pace, C D Kuslich, M C Willing, et al.

Journal of Medical Genetics|September 1, 1995

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type IM C Willing, R L Slayton, S H Pitts, et al.

American Journal of Human Genetics|May 1, 1990

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfectaR J Wenstrup, M C Willing, B J Starman, et al.

Human Mutation|October 23, 2001

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfectaJ M Pace, M Atkinson, M C Willing, et al.

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