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Highly effective SNP-based association mapping and management of recessive defects in livestock

It is shown that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects.
Nature (opens in a new tab)

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

The identification of a balanced chromosomal translocation in a female patient presenting with a disturbed sleep‐wake cycle, late‐onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation is reported, but not hyperekplexia.
Wiley (opens in a new tab)

The Glycinergic System in Human Startle Disease: A Genetic Screening Approach

How the ancient startle response is the preserve of glycinergic neurotransmission is described and how animal models and human hyperekplexia patients have provided synergistic evidence that implicates this inhibitory system in the control of startle reflexes is described.
PubMed (opens in a new tab)

Endogenous neurogenesis in the human brain following cerebral infarction.

The results suggest increased endogenous neurogenesis associated with neovascularization and migration of newly-formed cells towards a region of cerebrovascular damage in the adult human brain and highlight possible mechanisms underlying this process.
PubMed (opens in a new tab)

Defective Glycinergic Synaptic Transmission in Zebrafish Motility Mutants

Current knowledge regarding zebrafish ‘accordion’ and ‘twitch-once’ mutants, including beo and sho, are reviewed, and the identification of a new α2 subunit that revises the phylogeny of zebrafish GlyRs is reported.
PubMed (opens in a new tab)

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease*

This study firmly establishes the combination of missense, nonsense, frameshift, and splice site mutations in the GlyT2 gene as the second major cause of startle disease.
ASBMB (opens in a new tab)

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.

New inexpensive tests for the CMD2 allele are developed that can be used to confirm diagnosis, identify carriers and guide future breeding strategy, thus avoiding animal distress/premature death and minimizing the future economic impact of this disorder.
PubMed (opens in a new tab)

X‐linked CHARGE‐like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations

Data showed the functional effect of several novel intronic splice site variants but most importantly confirms that TBX22 is the gene underlying Abruzzo–Erickson syndrome, expanding the phenotypic spectrum ofTBX22 mutations.
Wiley (opens in a new tab)

A Critical Role for Glycine Transporters in Hyperexcitability Disorders

Recent studies of the Na+/Cl−-dependent glycine transporters GlyT1 and GlyT2 using mouse knockout models and human genetics have revealed that mutations in GlyT 2 are a second major cause of hyperekplexia, while the phenotype of the GlyT 1 knockout mouse resembles a devastating neurological disorder known as glycine encephalopathy.
PDF (opens in a new tab)

Defective glycinergic synaptic transmission in zebrafi sh motility mutants

The biological roles of GlyRs containing the α2, α3 and α4 subunits are less Defective glycinergic synaptic transmission in zebrafi sh motility mutants is less Defective glycinergic synaptic transmission in zebrafi sh motility mutants is unclear.
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