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Study links heart failure biomarker to tumors observed in rare genetic diseases

Galectin-3, a protein that promotes cancer cell growth and is used as a biomarker for heart failure, has been linked to tumors observed in two rare genetic diseases, according to a study published July 11, 2017, in eLife.

11 Jul 2017

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

Boston Children's Hospital researchers have uncovered a new molecular pathway that inhibits the myelination of neurons in the brains of patients with the rare genetic disorder tuberous sclerosis complex.

9 Feb 2017

Researchers identify lymphatic endothelial lineage that shows potential for new anti-cancer treatment

Identifying the cell of origin is crucial to understanding how a tumor develops and metastasizes and for developing targeted therapies.

8 Jun 2016

VCU Massey Cancer Center scientists reveal signaling process that leads to excessive growth of cancer

The gene p53 has been described as the "guardian of the genome" due to its prominent role in preventing genetic mutations. More than half of all cancers are thought to originate from p53 mutations or loss of function, and now a recent study by VCU Massey Cancer Center scientist Richard Moran, Ph.D., explains why.

15 Dec 2015

UT Southwestern researchers identify new gene mutations involved in certain kidney cancers

Using next generation gene sequencing techniques, cancer researchers at UT Southwestern Medical Center have identified more than 3,000 new mutations involved in certain kidney cancers, findings that help explain the diversity of cancer behaviors.

17 Nov 2014

Findings on molecular defects behind bladder cancer may pave way for new, targeted treatments

The once sketchy landscape of the molecular defects behind bladder cancer now resembles a road map to new, targeted treatments thanks to the unified efforts of scientists and physicians at 40 institutions.

30 Jan 2014

Study demonstrates effectiveness of everolimus for TSC patients

A drug originally developed to prevent the rejection of transplanted organs has now been shown to dramatically reduce seizures in patients with tuberous sclerosis complex - a genetic disease characterized by benign tumors on multiple organ systems.

16 Jul 2013

Deleting a single gene results in autism-like behavior

Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.

2 Jul 2012

FDA approves Novartis’ Afinitor for treatment of renal angiomyolipomas and TSC

Novartis Pharmaceuticals Corporation announced today that the US Food and Drug Administration (FDA) approved Afinitor (everolimus) tablets for the treatment of adult patients with kidney tumors known as renal angiomyolipomas and tuberous sclerosis complex (TSC), who do not require immediate surgery.

27 Apr 2012

Afinitor Phase III study on angiomyolipomas associated with TSC meets primary endpoint

A Phase III study of Afinitor (everolimus) tablets in patients with non-cancerous kidney tumors, or angiomyolipomas, associated with tuberous sclerosis complex (TSC) met its primary endpoint of best overall angiomyolipoma response rate, which includes reduction in kidney tumor size and absence of new tumors.

26 Sep 2011

Novartis Afinitor Phase III trial on tuberous sclerosis meets primary endpoint

Novartis Pharmaceuticals Corporation announced today Phase III trial results that showed more than one-third of patients taking Afinitor tablets experienced a 50% or greater reduction in the size of their subependymal giant cell astrocytomas, non-cancerous brain tumors associated with tuberous sclerosis complex.

8 Jul 2011

CINJ: Common genetic variation impacts diagnosis of breast cancer in postmenopausal women

Researchers from The Cancer Institute of New Jersey are converging on Washington, D.C., this week for the 101st Annual Meeting of the American Association for Cancer Research (AACR) to share their findings on how a common genetic variation can impact diagnosis of breast cancer in postmenopausal women.

20 Apr 2010

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

ATM, a protein that reacts to DNA damage by ordering repairs or the suicide of the defective cell, plays a similar, previously unknown role in response to oxidative damage outside of the nucleus, researchers report this week in the online version of the Proceedings of the National Academy of Sciences.

19 Feb 2010

Autism spectrum disorders result from miswiring of connections in developing brain

Studying a rare disorder known as tuberous sclerosis complex (TSC), researchers at Children's Hospital Boston add to a growing body of evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.

10 Jan 2010

TSC proteins regulate Notch activity

Two independent teams of researchers have identified a role for enhanced activation of the signaling protein Notch in tumors characterized by inactivation of either the TSC1 or the TSC2 protein. As indicated by Warren Pear, at the University of Pennsylvania, Philadelphia, in an accompanying commentary, these data provide a rationale for testing whether Notch inhibitors are of benefit to those with TSC-associated tumors.

29 Dec 2009

Prenatal molecular diagnosis for tuberous sclerosis complex

Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

2 Mar 2009

Chemical first found on Easter Island could treat tuberous sclerosis

A new study has shown promising results in fighting a severe genetic disorder which can create tumours throughout the body.

11 Jan 2008

New pathway for inflammation-induced cancer

A well-known inflammatory protein spawns an enzyme that inactivates two tumor-suppressing genes, ultimately triggering production of new blood vessels to nourish breast cancer cells, researchers at The University of Texas M. D. Anderson Cancer Center report in the August edition of the journal Cell .

11 Aug 2007

Studies explore genetic interactions between two well-known tumor suppressor proteins, PTEN and TSC2

Two papers in the August 1 issue of Genes & Development explore the genetic interactions between two well-known tumor suppressor proteins, PTEN and TSC2.

19 Jul 2005