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The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… immune response to viral infections in children with mitochondrial disorders Collection of articles reports …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases . PLoS Genet . 2011 …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… with the National Human Genome Research Institute Title: Mitochondrial DNA mutation A1555G and aminoglycoside-induced …
File
… Vice President, BioReference Laboratories 9.15 - 10.15 am Mitochondrial Disorders Ms. Lynn e Wolfe , CRNP, NHGRI 10.15 …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances … of looking at levels, we decided to measure metabolism itself. One form of MMA is caused by mutations in … in the MMUT protein, which plays a pivotal part in metabolism. The protein is involved in the biological steps …
Fact Sheets
Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.
… the female parent. However, organisms inherit all of their mitochondrial DNA from the female parent. This occurs because …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… cells - keep their mitochondria during fertilization. So, mitochondrial DNA is always inherited from the female parent. …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… sequencing and the use of a simple method for extracting mitochondrial sequence data from nuclear exome sequencing. … CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic …