Latest updates for Chchd2

Fresh curated links around CHCHD2 are collected here so marketers can spot useful updates and turn timely ideas into posts faster.

Recent items include:

  • Researchers identify role of newly discovered genetic variant in neurodevelopmental disorder
  • Forward genetics reveals a conserved CNBHD-CNBHD interface that restrains EAG channel activation to regulate sleep
  • Novel mouse model reveals the mechanisms of a rare genetic encephalopathy

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medicalxpress.com /1 week ago

Researchers identify role of newly discovered genetic variant in neurodevelopmental disorder

Researchers from Children's Hospital of Philadelphia (CHOP) have discovered the mechanisms of previously unknown changes in a gene that result in symptoms associated with a neurode...

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journals.plos.org /3 weeks ago

Forward genetics reveals a conserved CNBHD-CNBHD interface that restrains EAG channel activation to regulate sleep

by Xinyu Huang, Sudharsan Kannan, Gail A. Robertson, Han Wang KCNH voltage-gated potassium channels regulate neuronal excitability, yet how their hallmark cyclic nucleotide-bindin...

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medicalxpress.com /1 month ago

Novel mouse model reveals the mechanisms of a rare genetic encephalopathy

A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the...

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journals.plos.org /2 weeks ago

Chromatin stability safeguards mitochondrial homeostasis and restrains TORC1 signaling

by Vinoth Sigamani, Mohd Yousuf, Daniel L. Johnson, Brian D. Strahl, R. Nicholas Laribee Chromatin is dynamically regulated in response to nutrient flux to promote the transcripti...

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journals.plos.org /1 month ago

A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG

by Miriam C. Aziz, Jennie Wilson, Clement Y. Chow PIGA-CDG is a congenital disorder of glycosylation caused by pathogenic partial loss-of-function variants in the PIGA gene. PIGA...

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journals.plos.org

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medicalxpress.com

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