Results 71 to 80 of about 1,033 (156)

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor

, 2008
Mutations in the GLRA1 gene, which encodes the a1-subunit of the inhibitory glycine receptor (GlyR), are the underlying causes in the majority of cases of hereditary startle disease (OMIM no. 149400).
Andreas Humeny, Michael Becker, Kristina Becker, Fuat Aksu, Hans-Michael Meinck, Hans-Georg Breitinger, Bernd Dietz   +6 more
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Phylogenetic reconstruction of the GLR family.

, 2019
Reconstruction from amino acid alignment containing 370 sites. The bottom bar represents the scale for genetic changes (number of substitutions per site). Numbers at the nodes represent bootstrap statistical values. Note that the separation between GLRA2/
Meijiang Liao (105548), Domitille Chalopin (668693), Pierre Drapeau (105560), Eric Samarut (6659030), Raphaëlle Riché (6659033), Marc Allard (281187)   +5 more
core   +1 more source

Investigating the mechanism by which gain-of-function mutations to the a1 glycine receptor cause hyperekplexia

, 2016
Hyperekplexia is a rare human neuromotor disorder caused by mutations that impair the efficacy of glycinergic inhibitory neurotransmission. Loss-of-function mutations in the GLRA1 or GLRB genes, which encode the α1 and β glycine receptor (GlyR) subunits,
Nguyen, Bindi, Lynch, Joseph W., Angelo Keramidas, Zhang, Yan, Bode, Anna   +4 more
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Morphology and swimming activity of GlyR alpha subunit knockouts.

, 2019
A, For each knock-out, the embryos developed normally and no abnormal morphology was observed at 48 hpf. B, However, when their swimming activity was assessed at 5 dpf during 4h/4h dark/light condition, hic (glra1-/-) mutant larvae depicted a decreased ...
Meijiang Liao (105548), Domitille Chalopin (668693), Pierre Drapeau (105560), Eric Samarut (6659030), Raphaëlle Riché (6659033), Marc Allard (281187)   +5 more
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A novel GLRA1 mutation in a recessive hyperekplexia pedigree

We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
Forsyth RJ, Ginjaar I, Gika AD, Tijssen MAJ   +3 more
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A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.

, 1994
The neurologic mutant mouse, oscillator, is characterized by a fine motor tremor and muscle spasms that begin at 2 weeks of age and progressively worsen, resulting in death by 3 weeks of age.
White, W F, Cook, S A, Camper, S A, Davisson, M T, Buckwalter, M S   +4 more
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Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.

, 2015
Normal glucose homeostasis is characterized by appropriate insulin secretion and low HbA1c. Gene expression signatures associated with these two phenotypes could be essential for islet function and patho-physiology of type 2 diabetes (T2D).
Ottosson-Laakso, E., Ahlqvist, Emma,, Taneera, Jalal,, Fadista, J., Groop, L., Fadista, Joao,, Groop, Leif, Groop, Leif,, Wollheim, Claes, Taneera, J., Ahlqvist, E, Fadista, Joao, Taneera, Jalal, Ottosson Laakso, Emilia,, Wollheim, Claes,, Grubich Atac, David, Grubich Atac, David,, Lund University., Ottosson Laakso, Emilia, Ahlqvist, Emma, Atac, D.   +20 more
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The mRNA expression profile of glycine receptor subunits alpha 1, alpha 2, alpha 4 and beta in female and male mice

Glycine receptors are ligand-gated chloride-selective channels that control excitability in the central nervous system (CNS). Herein, we have investigated the mRNA expression of the glycine receptor alpha 1 (Glra1), alpha 2 (Glra2), alpha 4 (Glra4) and ...
Wiggins, Oskar,, Henriksson, Katharina,, Andréasson, Linn,, Weman, Hannah M., Lagerström, Malin C., Andréasson, Linn, Ceder, Mikaela M.,, Lagerström, Malin C.,, Wiggins, Oskar, Lindström, Teresa, Henriksson, Katharina, Magnusson, Kajsa A.,, Ceder, Mikaela M., Weman, Hannah M.,, Lindström, Teresa,, Magnusson, Kajsa A.   +15 more
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Ethnicity can predict GLRA1 genotypes in hyperekplexia

, 2015
\ua9 2015 J Neurol Neurosurg Psychiatry.Objectives Hyperekplexia is predominantly caused by mutations in the \ue1-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.
Chung SK, Wood SE, Rees MI, Thomas RH, Drew CJG, Hammond CL   +5 more
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GLRB is the third major gene of effect in hyperekplexia

, 2013
Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers a paediatric and adult startle disorder, hyperekplexia.
Thomas, R H, Yamashita, S., Ratnasinghe, D D, Shiang, R, Mullins, Jonathon G, Bode, A., Ratnasinghe, D. D., Cushion, T. D., Lingappa, Lokesh, Verma, Ishwar C., Harvey, R. J., Howell, O. W., Masri, A., Pickrell, W. O., Howell, Owain W., Yamashita, Sumimasa, Wood, Sian, Hunt, C, Harvey, Robert J., Puri, R D, Raile, Vera, Leiz, S., Rittey, Chris, Thomas, R. H., Weschke, B., Lynch, Joseph W., Raile, V, Weschke, B, Leiz, Steffen, Parker, Michael, Leiz, S, Owain Howell, Weschke, Bernhard, Bode, A, Wood, Sian-Elin, Seo-Kyung Chung, Harvey, Robert J, Pickrell, W O, Rittey, C, Longhardt, Ann-Carolyn, Drew, Cheney J. G., Chung, S K, Parker, M., Verma, I C, Pickrell, William O., Vanbellinghen, J.-F., Longhardt, A.-C., Bode, Anna, Rittey, C., Verma, I. C., Thomas Cushion, Ratnasinghe, Didi D., Hunt, C., Drew, C J G, Mullins, Jonathan G., Cushion, T D, Shiang, Rita, Rees, Mark I, Rees, M. I., Vanbellinghen, Jean-François, Wood, S E, Howell, Owain W, Thomas, Rhys H., Yamashita, S, Lynch, J. W., Parker, M, Lynch, Joseph W, Chung, Seo-Kyung, Mullins, J. G., Raile, V., Drew, C. J. G., Hunt, Charlotte, Jonathan Mullins, Owen Pickrell, Rees, Mark I., Puri, Ratna D., Cushion, Thomas D., Chung, S.-K., Rhys Thomas, Mark Rees, Masri, Chris, Lingappa, L., Longardt, A C, Puri, R. D., Masri, Amira, Shiang, R.   +85 more
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