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Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

Article Abstract:

Several studies are conducted to show that the mutations in the Bone Morphogenetic Protein-4 (BMP4) gene lead to various eye, brain and digit developmental anomalies in humans. The results show that the interaction of BMP4 with hedgehog signaling genes usually lead to such disorders.

Author: Ponting, Chris P., Robson, Anthony G., Holder, Graham E., Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan. David J., Wyatt, Alex, Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Neveu, Magella M., Collin, Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Genetic aspects, Child development deviations, Developmental disabilities, Bone morphogenetic proteins, Structure

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Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Article Abstract:

A distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB) that results in biallelic mutation in bestrophin-1 (BEST1) is described. It is proposed that ARB is the null phenotype of BEST1 in humans.

Author: Robson, Anthony G., Holder, Graham E., Webster, Andrew R., Leroy, Bart P., Manson, Forbes D.C., Burgess, Rosemary, Millar, Ian D., Urquhart, Jill E., Fearon, Ian M., Baere, Elfrida De, Brown, Peter D., Wright, Genevieve A., Kestelyn, Philippe, Black, Graeme C.M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Causes of, Gene mutations, Gene mutation, Retinal diseases, Allelomorphism, Alleles

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Subjects list: Research
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