نتایج جستجو برای: polg gene

تعداد نتایج: 1141492  

Journal: :Seizure 2010
Russell P. Saneto Inn-Chi Lee Mary Kay Koenig Xinhua Bao Shao-Wen Weng Robert K. Naviaux Lee-Jun C. Wong

PURPOSE To review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures. METHODS Four patients who developed VPA-induced hepatotoxicity were examined for POLG sequence variations. A subsequent chart review was used to describe clinical course prior to and after VPA dosing. R...

Journal: :Asian journal of andrology 2011
Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Yu-Feng Yao Lei Shi Jin-Bao Chen Ke-Qin Lin Liang Yu Li Shi Xiao-Qin Huang Hao Sun Jia-You Chu

Several studies have reported a relationship between the length of the CAG-repeat in the polymerase γ (POLG) gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of 10-CAG alleles and genotypes were high (9...

Journal: :Molecular human reproduction 2008
G H Westerveld L Kaaij-Visser M Tanck F van der Veen S Repping

Several case-control studies have investigated the effect of CAG repeat length variation in the POLG gene on male fertility and semen quality. Some described an association between the homozygous not10 CAG-repeat genotype and male subfertility and/or reduced semen quality, whereas others did not. The aim of our study was to investigate whether the not10/not10 variant is associated with spermato...

2015
Mehri KHATAMI Mohammad Mehdi HEIDARI Reza MANSOURI Fatemeh MOUSAVI

OBJECTIVE Multiple Sclerosis (MS) is a common disease of the central nervous system. The interaction between inflammatory and neurodegenerative processes typically results in irregular neurological disturbances followed by progressive disability. Mitochondrial dysfunction has been implicated in neurodegenerative disorders. The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subuni...

2014
Joe Smith Tom Collin Victor Kumar

ver the last decade, novel mitochondrial genetic diseases have been identified in which mutations in DNA polymerase γ (POLG [MIM 174763]) gene are involved. POLG1 is the only DNA polymerase in human mitochondria and is essential for mitochondrial (mt) DNA replication and repair. It has to be stressed that functional genetic variants of POLG are present in about 0.5 percent of the normal populat...

2018
Joni Nikkanen Juan Cruz Landoni Diego Balboa Maarja Haugas Juha Partanen Anders Paetau Pirjo Isohanni Virginia Brilhante Anu Suomalainen

DNA polymerase gamma (POLG), the mtDNA replicase, is a common cause of mitochondrial neurodegeneration. Why POLG defects especially cause central nervous system (CNS) diseases is unknown. We discovered a complex genomic regulatory locus for POLG, containing three functional CNS-specific enhancers that drive expression specifically in oculomotor complex and sensory interneurons of the spinal cor...

2015
Jennifer J. Rahn Jennifer E. Bestman Krista D. Stackley Sherine S.L. Chan

DNA polymerase gamma (POLG) is essential for replication and repair of mitochondrial DNA (mtDNA). Mutations in POLG cause mtDNA instability and a diverse range of poorly understood human diseases. Here, we created a unique Polg animal model, by modifying polg within the critical and highly conserved polymerase domain in zebrafish. polg(+/-) offspring were indistinguishable from WT siblings in m...

2012
Vivienne C. M. Neeve David C. Samuels Laurence A. Bindoff Bianca van den Bosch Gert Van Goethem Hubert Smeets Anne Lombès Claude Jardel Michio Hirano Salvatore DiMauro Maaike De Vries Jan Smeitink Bart W. Smits Ireneus F. M. de Coo Carsten Saft Thomas Klopstock Bianca-Cortina Keiling Birgit Czermin Angela Abicht Hanns Lochmüller Gavin Hudson Grainne G. Gorman Doug M. Turnbull Robert W. Taylor Elke Holinski-Feder Patrick F. Chinnery Rita Horvath

Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations behave as both dominant and recessive alleles, but an autosomal recessive inheritance pattern is much more common. The most frequently detected pathogenic POLG mutation in th...

Journal: :Archives of neurology 2010
Bulent Kurt Jaak Jaeken Johan Van Hove Lieven Lagae Ann Löfgren David B Everman Parul Jayakar Ali Naini Klaas J Wierenga Gert Van Goethem William C Copeland Salvatore DiMauro

OBJECTIVE To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. DESIGN Genotype-phenotype correlation. SETTING Tertiary care universities. PATIENTS Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467...

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