Key genetic error found in family of blood cancers

Scientists have uncovered a critical genetic mutation in some patients with myelodysplastic syndromes — a group of blood cancers that can progress to a fatal form of leukemia. The research team at Washington University School of Medicine in St. Louis also found evidence that patients with the mutation are more likely to develop acute leukemia.

Gene scan helps identify cause of inherited blindness

Scientists at Washington University School of Medicine in St. Louis have scanned the entire genome of mice for genes that help build photoreceptors, the light-sensing cells of the eye. The results have already helped researchers identify the gene that causes a form of retinitis pigmentosa, a type of inherited blindness in humans.

Chromosomal abnormality found for inherited clubfoot

Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.  

New subtype of breast cancer responds to targeted drug

A newly identified cancer biomarker could define a new subtype of breast cancer as well as offer a potential way to treat it, say researchers at Washington University School of Medicine in St. Louis. The biomarker is found frequently in breast cancers that have poorer outcomes and can be inhibited by a protein discovered in the same laboratory, which could become an effective drug against the breast cancer type.

Growth factor gene shown to be a key to cleft palate

Cleft palate has been linked to dozens of genes. During their investigation of one of these genes, researchers at Washington University School of Medicine in St. Louis were surprised to find that cleft palate occurs both when the gene is more active and when it is less active than normal. 

Plant polymerases IV and V are special forms of Polymerase II

It’s a little like finding out that Superman is actually Clark Kent. A team of biologists at Washington University in St. Louis has discovered that two vital cellular components, nuclear RNA Polymerases IV and V (Pol IV and V), found only in plants, are actually specialized forms of RNA Polymerase II, an essential enzyme of all eukaryotic organisms, including humans.

Scientists identify first gene linked to scoliosis

An X-ray of a case of scoliosis.Physicians have recognized scoliosis, the abnormal curvature of the spine, since the time of Hippocrates, but its causes have remained a mystery — until now. Researchers at the School of Medicine and collaborating institutions have discovered a gene that underlies the condition, which affects about three percent of all children. The finding lays the groundwork for determining how the genetic defect leads to the C- and S-shaped curves that characterize scoliosis.

Scientists identify first gene linked to scoliosis

An X-ray of a case of scoliosis.Physicians have recognized scoliosis, the abnormal curvature of the spine, since the time of Hippocrates, but its causes have remained a mystery — until now. Researchers at Washington University School of Medicine in St. Louis and collaborating institutions have discovered a gene that underlies the condition, which affects about three percent of all children. The finding lays the groundwork for determining how the genetic defect leads to the C- and S-shaped curves that characterize scoliosis.

One gene provides fruit fly both antenna and color vision

<img src="/news/PublishingImages/4048_t.jpg" alt="Pretty fly — for a fruit fly. The areas stained blue are regions in the fruit fly where the spineless gene is expressed.” height=”211″ width=”150″ />Pretty fly – for a fruit fly. The areas stained blue are regions in the fruit fly where the spineless gene is expressed.A team of researchers that includes biologists from Washington University in St. Louis has discovered that a gene involved in the development and function of the fruit fly antenna also gives the organism its color vision. Claude Desplan, Ph.D., professor of biology at New York University, and his students made the discovery and provided the data. Ian Duncan, Washington University professor of biology, and his wife, research assistant Dianne Duncan, provided the Desplan laboratory fruit fly (Drosophila) clones and mutants and technical assistance that helped locate where the gene, called spineless, is expressed in the retina. More…
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