Search Results - "STURM, R. A"

The evolving universe of BRAF mutations in melanoma by Schaider, H., Sturm, R.A.

“…Linked Article: Richtig et al. Br J Dermatol 2017; 177:936–944…”
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Skin colour and skin cancer - MC1R, the genetic link by Sturm, R A

“…Pigmentary traits such as red hair, fair skin, lack of tanning ability and propensity to freckle (the RHC phenotype) have been identified as genetic risk…”
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Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair by Box, Neil F., Wyeth, Jason R., O'Gorman, Louise E., Martin, Nicholas G., Sturm, Richard A.

“…The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of…”
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Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype? by Palmer, James S., Duffy, David L., Box, Neil F., Aitken, Joanne F., O'Gorman, Louise E., Green, Adele C., Hayward, Nicholas K., Martin, Nicholas G., Sturm, Richard A.

“…Risk of cutaneous malignant melanoma (CMM) is increased in sun-exposed whites, particularly those with a pale complexion. This study was designed to…”
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High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk by Duffy, D.L., Lee, K.J., Jagirdar, K., Pflugfelder, A., Stark, M.S., McMeniman, E.K., Soyer, H.P., Sturm, R.A.

“…Summary Background A high total body naevus count is the highest risk factor for melanoma; the phenotype of red hair colour, freckling and pale skin that burns…”
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Genetic Association and Cellular Function of MC1R Variant Alleles in Human Pigmentation by STURM, R. A., DUFFY, D. L., BOX, N. F., NEWTON, R. A., SHEPHERD, A. G., CHEN, W., MARKS, L. H., LEONARD, J. H., MARTIN, N. G.

“…: We have examined MC1R variant allele frequencies in the general population of South East Queensland and in a collection of adolescent dizygotic and…”
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The ubiquitous octamer-binding protein Oct-1 contains a POU domain with a homeo box subdomain by STURM, R. A, DAS, G, HERR, W

“…The octamer motif ATGCAAAT is recognized indistinguishably by two mammalian transcription factors: one that is expressed ubiquitously and referred to here as…”
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Rufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene by Manga, P., Kromberg, J.G.R., Box, N.F., Sturm, R.A., Jenkins, T., Ramsay, M.

“…Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three forms that account for almost all…”
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Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism : A new subtype of albinism classified as OCA3 by BOISSY, R. E, ZHAO, H, NORDLUND, J. J, OETTING, W. S, AUSTIN, L. M, WILDENBERG, S. C, BOISSY, Y. L, ZHAO, Y, STURM, R. A, HEARING, V. J, KING, R. A

“…Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA…”
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The BRAF and NRAS mutation prevalence in dermoscopic subtypes of acquired naevi reveals constitutive mitogen‐activated protein kinase pathway activation by Tan, J.M., Tom, L.N., Jagirdar, K., Lambie, D., Schaider, H., Sturm, R.A., Soyer, H.P., Stark, M.S.

“…Summary Background Acquired naevi can have unique dermoscopic patterns that correspond to distinct microanatomical growth patterns. Previous studies on…”
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The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls by McMeniman, E.K., Duffy, D.L., Jagirdar, K., Lee, K.J., Peach, E., McInerney‐Leo, A.M., De'Ambrosis, B., Rayner, J.E., Smithers, B.M., Soyer, H.P., Sturm, R.A.

“…Summary Background Skin phenotype, host genotype and ultraviolet (UV) damage play a role in the development of melanoma. Objectives To ascertain whether the…”
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Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case–control study by Laino, A.M., Berry, E.G., Jagirdar, K., Lee, K.J., Duffy, D.L., Soyer, H.P., Sturm, R.A.

“…Summary Background Iris naevi and iris freckles have a frequency of 4% and 50% in the European population, respectively. They are associated with dysplastic…”
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Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients by Rayner, J.E., McMeniman, E.K., Duffy, D.L., De'Ambrosis, B., Smithers, B.M., Jagirdar, K., Lee, K.J., Soyer, H.P., Sturm, R.A.

“…Background Amelanotic/hypomelanotic melanoma is associated with poorer outcomes due to a more advanced disease stage at diagnosis. Objective To determine…”
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The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products by HERR, W, STURM, R. A, HORVITZ, H. R, CLERC, R. G, CORCORAN, L. M, BALTIMORE, D, SHARP, P. A, INGRAHAM, H. A, ROSENFELD, M. G, FINNEY, M, RUVKUN, G

“…The authors describe a large, 150- to 160-amino-acid-long region of sequence similarity in the three mammalian proteins Pit-1, Oct-1, and Oct-2 and in the…”
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GSTP1 and MC1R in melanoma susceptibility by Sturm, R.A.

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Naevus count and MC1R R alleles contribute to melanoma risk by Duffy, D.L., Lee, K.J., Jagirdar, K., Pflugfelder, A., Stark, M.S., McMeniman, E.K., Soyer, H.P., Sturm, R.A.

“…Summary Melanoma is the most dangerous form of skin cancer: around 15% of cases worldwide are fatal, but with early detection, survival rates are better than…”
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Inverse expression states of the BRN2 and MITF transcription factors in melanoma spheres and tumour xenografts regulate the NOTCH pathway by Thurber, A E, Douglas, G, Sturm, E C, Zabierowski, S E, Smit, D J, Ramakrishnan, S N, Hacker, E, Leonard, J H, Herlyn, M, Sturm, R A

“…The use of adherent monolayer cultures have produced many insights into melanoma cell growth and differentiation, but often novel therapeutics demonstrated to…”
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CDKN2A testing threshold in a high‐risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk by McMeniman, E.K., Peach, E., Lee, K.J., Yanes, T., Jagirdar, K., Stark, M.S., Soyer, H.P., Duffy, D.L., McInerney‐Leo, A.M., Sturm, R.A.

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Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles by Beaumont, Kimberley A., Shekar, Sri L., Newton, Richard A., James, Michael R., Stow, Jennifer L., Duffy, David L., Sturm, Richard A.

“…The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are…”
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Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: a cross-sectional study by Lee, S., Duffy, D.L., McClenahan, P., Lee, K.J., McEniery, E., Burke, B., Jagirdar, K., Martin, N.G., Sturm, R.A., Soyer, H.P., Schaider, H.

“…Summary Background Heritability of naevi counts is widely acknowledged as a potential surveillance parameter for prevention purposes. The contribution of…”
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