Results 121 to 130 of about 1,033 (156)

Transcriptomic Profiling of Relapsed Rhabdomyosarcoma: Pre- and Post-Treatment Tissue Analysis Reveals Molecular Characteristics of Treatment Failure. [PDF]

Pediatr Blood Cancer
Muskara A, Parthasarathy PB, Oyarbide U, Ma Y, Ganguly S, Imamura J, Liao R, Rubin BP, Macaskill A, Murphy ES, Anderson PM, Gryder BE, Scott JG, Zahler SG, Mian OY.   +14 more
europepmc   +1 more source

Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes. [PDF]

Sci Rep
Farhangdoost N, Pietrantonio A, Liu Y, Liao C, Rochefort D, Pacis A, Alda M, Dion PA, Chaumette B, Khayachi A, Rouleau GA.   +10 more
europepmc   +1 more source

Therapeutic Insights and Immune Pathway Connections Revealed by Core Symptom Gene Network Analysis in Ankylosing Spondylitis. [PDF]

Curr Issues Mol Biol
Choi Y, Kim MH, Kim DY.
europepmc   +1 more source

Biomimetic membrane-coating zinc sulfide nanoparticles for anti-inflammatory combined neuroprotective therapy for spinal cord injury. [PDF]

Bioact Mater
Qin Q, Jin B, Bai C, Zhou Z, Shan B, Ding C, Han Z, Wang X, Zhong H, Zhao K, Xie H, Gao X, Cheng L, Zhou X.   +13 more
europepmc   +1 more source

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Movement Disorders, 2007
AbstractWe 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.
Rob Forsyth, Marina A J Tijssen
exaly   +7 more sources

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes

Pediatric Neurology, 2022
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle reflexes, and (3) generalized stiffness following the startle. Defects in GLRA1 are the most common cause of HPX, inherited both in an autosomal dominant and autosomal recessive manner.
Elisabetta Ferraroli, Patrizia Spadafora, Francesca Cavalcanti   +2 more
exaly   +7 more sources

Hyperekplexia in Kurdish families: A possible GLRA1 founder mutation

Neurology, 2006
Autosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder effect in Kurds from Turkey. Hyperekplexia may be misdiagnosed as epilepsy.
Pandolfo M
exaly   +5 more sources

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

Annals of Neurology, 1999
Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35.
A C B Peters, R R Frants
exaly   +8 more sources

Ethnicity can predict GLRA1 genotypes in hyperekplexia

Journal of Neurology, Neurosurgery & Psychiatry, 2014
Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.We carefully ascertained reports of ethnicity from our hyperekplexia research cohort.
Thomas RH, Drew CJG, Wood SE, Hammond CL, Chung SK, Rees MI   +5 more
openaire   +5 more sources