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GenomicsExome sequencing of autosomal recessive progressive external ophthalmoplegia (arPEO)

Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes including POLG1 and C10orf2/Twinkle have been id...

phs000392.v1.p1 | EGA
TranscriptomicsA nuclear Argonaute promotes germline immortality and epigenetic inheritance across generations
dsRNA-mediated gene silencing (RNAi) can be inherited for multiple generations in C. elegans. To understand this process we conducted a genetic screen for animals defective for transmitting RNAi silencing signals to future generations. This screen identified the gene heritable RNAi defective (hrde)-...
ORGANISM(S): Caenorhabditis elegans 
2012-07-30 | E-GEOD-38041 | biostudies-arrayexpress
TranscriptomicsDioxin (TCDD) Induces Epigenetic Transgenerational Inheritance of Adult Onset Disease and Sperm Epimutations
Environmental compounds can promote epigenetic transgenerational inheritance of adult-onset disease in subsequent generations following ancestral exposure during fetal gonadal sex determination. The current study examined the ability of dioxin (2,3,7,8-tetrachlorodibenzo[p]dioxin, TCDD) to promote e...
ORGANISM(S): Rattus norvegicus 
2014-07-22 | E-GEOD-59552 | biostudies-arrayexpress
TranscriptomicsHydrocarbons (Jet Fuel JP-8) Induce Epigenetic Transgenerational Inheritance of Obesity, Reproductive Disease and Sperm Epimutations
Environmental compounds have been shown to promote epigenetic transgenerational inheritance of disease. The current study was designed to determine if a hydrocarbon mixture involving jet fuel (JP-8) promotes epigenetic transgenerational inheritance of disease. Gestating F0 generation female rats wer...
ORGANISM(S): Rattus norvegicus 
2014-07-22 | E-GEOD-59553 | biostudies-arrayexpress
TranscriptomicsPesticide and Insect Repellent Mixture (Permethrin and DEET) Induces Epigenetic Transgenerational Inheritance of Disease and Sperm Epimutations
Environmental compounds are known to promote epigenetic transgenerational inheritance of disease. The current study was designed to determine if a M-bM-^@M-^\pesticide mixtureM-bM-^@M-^] (pesticide permethrin and insect repellent N,N-Diethyl-meta-toluamide, DEET) promotes epigenetic transgenerationa...
ORGANISM(S): Rattus norvegicus 
2014-07-22 | E-GEOD-59554 | biostudies-arrayexpress
UnknownComplex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Not available
S-EPMC1785342 | biostudies-literature
GenomicsExome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia
Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia
PRJNA75351 | ENA
UnknownSegregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.
Not available
S-EPMC1288206 | biostudies-literature
UnknownAutosomal recessive inheritance of classic Bethlem myopathy.
Not available
S-EPMC2787906 | biostudies-literature
GenomicsIdentifying autosomal recessive mutations causing neurological disorders
The objective of this study is to resequence of targeted intervals containing autosomal recessive variants causing neurological disorders in consanguineous pedigrees. Using homozygosity mapping, three intervals of very different sizes have previously been unambiguously mapped for three different neu...
EGAS00001000023 | EGA
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