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Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Scientists discover why major depression or chronic stress can cause loss of brain mass

Major depression or chronic stress can cause the loss of brain volume, a condition that contributes to both emotional and cognitive impairment. Now a team of researchers led by Yale scientists has discovered one reason why this occurs - a single genetic switch that triggers loss of brain connections in humans and depression in animal models.

13 Aug 2012

Research focuses on evolution of sex and gamete function

The propagation of every animal on the planet is the result of sexual activity between males and females of a given species. But how did things get this way? Why two sexes instead of one? Why are sperm necessary for reproduction and how did they evolve? These as-yet-unresolved issues fascinate Timothy Karr, a developmental geneticist and evolutionary biologist at Arizona State University's Biodesign Institute.

13 Aug 2012

Research on language gene seeks to uncover origins of the singing mouse

Singing mice (Scotinomys teguina) are not your average lab rats. Their fur is tawny brown instead of the common white albino strain; they hail from the tropical cloud forests in the mountains of Costa Rica; and, as their name hints, they use song to communicate.

12 Aug 2012

Molecular missteps disrupt brain function in adult-onset muscular dystrophy

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study published by Cell Press. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as excessive daytime sleepiness, memory problems, and mental retardation.

10 Aug 2012

Potential drug targets and prognostic markers for prostate cancer

Two proteins that act in opposing directions - one that promotes cancer and one that suppresses cancer - regulate the same set of genes in prostate cancer, Vanderbilt-Ingram Cancer Center researchers have found.

6 Aug 2012

Planarian flatworms now a model system for studying eye development and eye diseases

Planarian flatworms have come under intense study for their renowned ability to regenerate any missing body part, even as adults. But now they may take on a starring role as a model system for studying eye development and eye diseases in vertebrates, including humans.

3 Aug 2012

HSF1 increases expression of chaperones and supports cancer metastasis

Whitehead Institute researchers have found that increased expression of a specific set of genes is strongly associated with metastasis and death in patients with breast, colon, and lung cancers.

3 Aug 2012

Researchers discover surprising and unexpected plasticity in the embryonic endothelium

UCLA stem cell researchers have found for the first time a surprising and unexpected plasticity in the embryonic endothelium, the place where blood stem cells are made in early development.

3 Aug 2012

Myc-directed repression of tristetraprolin important for development and maintenance of cancer

Scientists from the Florida campus of The Scripps Research Institute have identified a protein that impairs the development and maintenance of lymphoma (cancer of the lymph nodes), but is repressed during the initial stages of the disease, allowing for rapid tumor growth.

3 Aug 2012

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

A trio of groundbreaking publications from researchers in Northwestern University's Physical Sciences-Oncology Center (PS-OC) report important methodological advances that will enable a better understanding of how gene expression is regulated, both in normal cells and in cancer cells. This knowledge could lead to the development of more effective therapeutic agents to treat cancer patients.

2 Aug 2012

Gluconeogenesis severely compromised in HCC by IL6-Stat3-mediated activation of miR-23a

As liver cancer develops, tumor cells lose the ability to produce and release glucose into the bloodstream, a key function of healthy liver cells for maintaining needed blood-sugar levels.

31 Jul 2012

Protein associated with Huntington’s and other neurodegenerative diseases has several brain-specific forms

A protein essential for metabolism and recently associated with neurodegenerative diseases also occurs in several brain-specific forms. This discovery emerged in the course of a research project funded by the Austrian Science Fund FWF, the findings of which have now been published in the journal Human Molecular Genetics.

23 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Registered dietitians cut hospital nutrition order errors

Registered dietitians are faster and more accurate than other hospital staff when entering physician-approved nutrition-related orders, show study findings.

19 Jul 2012

Inhibiting STAT3 might unleash an effective anti-lymphoma immune response

Researchers at Moffitt Cancer Center and colleagues have demonstrated that the inhibition of signal transducer and activator of transcription 3 (STAT3) in mouse models of mantle cell lymphoma (MCL), an aggressive and incurable subtype of B-cell non-Hodgkin lymphoma that becomes resistant to treatment, can harness the immune system to eradicate residual malignant cells responsible for disease relapse.

19 Jul 2012

Scientists discover new way to convert cord blood cells into iNC

For more than 20 years, doctors have been using cells from blood that remains in the placenta and umbilical cord after childbirth to treat a variety of illnesses, from cancer and immune disorders to blood and metabolic diseases.

17 Jul 2012

Targeting CDK1 pathway may be efficacious for acute myeloid leukemias with FLT3 mutation

Acute myeloid leukemia, a common leukemia in adults, is characterized by aberrant proliferation of cancerous bone marrow cells. Activating mutations in a protein receptor known as FLT3 receptor are among the most prevalent mutations observed in acute myeloid leukemias. FLT3 mutants are thought to activate several signaling pathways that contribute to cancer development.

17 Jul 2012

Mitochondrial gene regulators involved in Huntington’s disease pathology

Researchers have identified two molecules involved in mitochondrial function that appear to be important in the pathogenesis of Huntington’s disease.

16 Jul 2012

Transcription News and Research

Researchers identify new gene in Cornelia deLange syndrome

HDAC8 gene mutations cause Cornelia deLange syndrome

Scientists discover why major depression or chronic stress can cause loss of brain mass

Research focuses on evolution of sex and gamete function

Research on language gene seeks to uncover origins of the singing mouse

Molecular missteps disrupt brain function in adult-onset muscular dystrophy

Potential drug targets and prognostic markers for prostate cancer

Planarian flatworms now a model system for studying eye development and eye diseases

HSF1 increases expression of chaperones and supports cancer metastasis

Researchers discover surprising and unexpected plasticity in the embryonic endothelium

Myc-directed repression of tristetraprolin important for development and maintenance of cancer

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

Gluconeogenesis severely compromised in HCC by IL6-Stat3-mediated activation of miR-23a

Protein associated with Huntington’s and other neurodegenerative diseases has several brain-specific forms

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Registered dietitians cut hospital nutrition order errors

Inhibiting STAT3 might unleash an effective anti-lymphoma immune response

Scientists discover new way to convert cord blood cells into iNC

Targeting CDK1 pathway may be efficacious for acute myeloid leukemias with FLT3 mutation

Mitochondrial gene regulators involved in Huntington’s disease pathology

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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