Posts Tagged
‘mutations’

September 27, 2021

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by: admin

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Tags: Analysis, Autism, estimate, mutations, role, Spectrum, spontaneous, ups

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Categories: autism

Family Matters: Spontaneous genetic mutations are much more likely to contribute to autism in children whose siblings are unaffected than in children whose siblings do. Imimimagery / Adobe Stock Spontaneous genetic mutations contribute to autism in 30 to 39 percent of people with the condition, an increase from previous estimates, according to a new study. […]

September 17, 2021

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by: admin

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Tags: Autism, detectable, linked, mens, mutations, Spectrum, sperm

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Categories: autism

Gymnastics Visual / Getty Images About 1 in 15 men carries genetically damaging mutations – some linked to autism or congenital heart disease – only in their semen, a small study suggests. An advanced DNA sequencing technique detected the “mosaic” mutations in 25 men in the general population. Mosaic mutations arise after conception and therefore […]

August 5, 2021

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by: admin

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Tags: Autism, gene, lead, mutations, seizures, Spectrum, Top

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Categories: autism

Some mutations that disable SCN2A, one of the genes most closely linked to autism, can make neurons unexpectedly hyperexcitable, a study in mice shows. The results could help explain why a significant proportion of autistic children with mutations in SCN2A have epileptic seizures. SCN2A codes for Nav1.2, a sodium ion channel that helps transmit electrical […]

August 2, 2021

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by: admin

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Tags: Autism, contribute, genome, mutations, noncoding, Spectrum

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Categories: autism

Non-Coding Contributors: New evidence links autism to three spontaneous mutations in a part of the genome that regulates the EBF3 gene. Spontaneous mutations in “non-coding” regions of the genome have been linked to autism, according to a new study. The work strongly supports the idea that the genetic roots of autism lie not only in […]

July 12, 2021

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by: admin

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Tags: Autism, frontier, mutations, Patchwork, present, research, Spectrum

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Categories: autism

In den späten 1990er Jahren, als Christopher Walsh daran arbeitete, das Gen zu identifizieren, das eine neurologische Entwicklungsstörung namens Doppelkortex-Syndrom verursacht, bemerkte Christopher Walsh etwas Seltsames: Die Genmutation, die er für verantwortlich hielt, die er bei zwei Geschwistern mit der Krankheit beobachtet hatte, war ebenfalls vorhanden bei ihrer nicht betroffenen Mutter. „Wir wussten nicht, was […]