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Latest Cornelia de Lange Syndrome Stories

2013-10-04 13:17:31

Studies in fish and cultured human cells provide insight into a human disease Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth. Researchers know which mutations underlie some cohesinopathies, but have developed little understanding of the downstream signals that are disrupted in these conditions. In a study published in the October 3, 2013,...

2012-05-29 12:37:29

Children's Hospital of Philadelphia researchers shed light on genetic disorders tied to cohesin protein malfunction Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called...

2012-05-03 16:05:03

They have identified new functions of cohesin SA1 that are relevant for cancer and CdLS Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of...

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2010-02-15 11:45:00

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell. Now, research,...

2009-05-27 09:07:00

-Knowledge May Improve Diagnosis for Children with Cornelia deLange Syndrome- PHILADELPHIA, May 27 /PRNewswire-USNewswire/ -- An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans. When gene regulation is disrupted in the multisystem genetic disease Cornelia deLange syndrome (CdLS), children may suffer missing...


Word of the Day
cock-a-hoop
  • Exultant; jubilant; triumphant; on the high horse.
  • Tipsy; slightly intoxicated.
This word may come from the phrase 'to set cock on hoop,' or 'to drink festively.' Its origin otherwise is unclear. A theory, according to the Word Detective, is that it's a 'transliteration of the French phrase 'coq a huppe,' meaning a rooster displaying its crest ('huppe') in a pose of proud defiance.' Therefore, 'cock-a-hoop' would 'liken a drunken man to a boastful and aggressive rooster.'
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