Ara
Toplam kayıt 52, listelenen: 31-40
L-2-Hydroxyglutaric Aciduria: Identification of a Mutant Gene C14Orf160, Localized on Chromosome 14Q22.1
(Oxford Univ Press, 2004)
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid ...
Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis
(Oxford Univ Press, 2004)
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ...
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ...
Recessive Ttn Truncating Mutations Define Novel Forms of Core Myopathy with Heart Disease
(Oxford Univ Press, 2014)
Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been ...
The Mutational Spectrum Of Human Malignant Autosomal Recessive Osteopetrosis
(Oxford Univ Press, 2001)
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2)
(Cell Press, 2000)
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in ...
Automated Discrimination of Psychotropic Drugs in Mice Via Computer Vision-Based Analysis
(Elsevier Science Bv, 2009)
We developed an inexpensive computer vision-based method utilizing an algorithm which differentiates drug-induced behavioral alterations. The mice were observed in an open-field arena and their activity was recorded for ...
Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome
(Nature Publishing Group, 2017)
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ...
Ezrin Inhibition Up-Regulates Stress Response Gene Expression
(Amer Soc Biochemistry Molecular Biology Inc, 2016)
Ezrin is a member of the ERM (ezrin/radixin/moesin) family of proteins that links cortical cytoskeleton to the plasma membrane. High expression of ezrin correlates with poor prognosis and metastasis in osteosarcoma. In ...