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Specificity in transforming growth factor--beta signaling pathways

Article Abstract:

Molecular embryogenesis and mechanisms by which signaling specificity can be achieved are reviewed using the frog Xenopus laevis as a model system. Experiments testing classic models of pattern formation in embryogenesis have been carried out using Xenopus. Bone morphogenetic proteins (BMPs) are involved in bone morphogenesis and embryonic patterning. That shows that transforming growth factor (TGF)-beta ligands can bring on differential responses depending on cell context. Questions about signaling specificity are central in the TGF-beta field.

Author: Ring, C.J., Cho, K.W.Y.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
United States, Genetic aspects, Cellular signal transduction, Morphogenesis, Transforming growth factors

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Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

Article Abstract:

Studies have provided substantial evidence supporting the causative link between the C12258A mtDNA mutation and Usher's syndrome disorders. The disorders, characterized by hearing loss and retinitis pigmentosa-induced blindness, affect Irish kindred populations. The transversion discovered at position 12258 was heteroplasmic and found only in family members, a sequence change not observed in unaffected individuals.

Author: Humphries, Peter, Farrar, G. Jane, Millington-Ward, Sophia, Kiang, Anna-Sophia, Kenna, Paul F., Mansergh, Fiona C., Kennan, Avril, Humphries, Marian
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Ireland, Health aspects, Genetic disorders, Hearing loss, Irish (European people), Irish, Retinitis pigmentosa, Usher's syndrome

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