Results 81 to 90 of about 1,033 (156)

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1
Chung, S.-K., Thomas, Rhys Huw, Hammond, C. L., Mullins, J. G. L., Drew, C. J. G., Cushion, T. D., Wood, S. E., Vanbellinghen, J.-F., Rees, M. I.   +8 more
core   +1 more source

Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia [PDF]

, 2017
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 pathophysiology of type 2 diabetes (T2D).
Fadista, Joao, Taneera, Jalal, Ottosson-Laakso, Emilia, Wollheim, Claes B., Groop, Leif, Ahlqvist, Emma, Atac, David   +6 more
core  

Hyperekplexia: A Treatable Seizure Mimicker in Infants. [PDF]

Cureus, 2023
Dudipala SC, Reddy RV, Shankar R.
europepmc   +1 more source

Familial Hyperekplexia Caused by a Novel Homozygous <i>SLC6A5</i> Variant: A Case Report. [PDF]

Mol Syndromol
Yılmaz FH, Kahraman AB, Duymuş F, Koçak Eker H, Çelik H, Büyükeren M, Özcan B, Keçeci R.   +7 more
europepmc   +1 more source

Screening and identification of potential target of 1'-acetoxychavicol acetate (ACA) in acquired lapatinib-resistant breast cancer. [PDF]

Heliyon
Wulandari F, Fauzi A, Da'i M, Mirzaei M, Maryati, Harismah K.   +5 more
europepmc   +1 more source

Single molecule counting detects low-copy glycine receptors in hippocampal and striatal synapses. [PDF]

Elife
Camuso S, Vella Y, Youjil Abadi S, Mille C, Brône B, Specht CG.   +5 more
europepmc   +1 more source

An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma. [PDF]

NMC Case Rep J
Baba N, Kawataki T, Taketani T, Kinouchi H.   +3 more
europepmc   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Presenting as Progressive Encephalomyelitis with Rigidity and Myoclonus. [PDF]

Mov Disord Clin Pract, 2023
Lim GZ, Yap LG, Chuang DF, Yeo T, Tan K.
europepmc   +1 more source

Localization of the Ames dwarf mutation and identification of the spasmodic and oscillator mutations.

, 1996
Mouse mutants provide an opportunity to clone novel genes that are involved in specific biological processes, and provide animal models for human disease.
Buckwalter, Marion Seaman
core  

Role of the Glycine Receptor β Subunit in Synaptic Localization and Pathogenicity in Severe Startle Disease. [PDF]

J Neurosci
Wiessler AL, Hasenmüller AS, Fuhl I, Mille C, Cortes Campo O, Reinhard N, Schenk J, Heinze KG, Schaefer N, Specht CG, Villmann C.   +10 more
europepmc   +1 more source